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101. Two novel direct SPIO labels and in vivo MRI detection of labeled cells after acute myocardial infarct

Author: Korpi, R. M. (Riikka M), Alestalo, K. (Kirsi), Ruuska, T. (Timo), Lammentausta, E. (Eveliina), Borra, R. (Ronald), Yannopoulos, F. (Fredrik), Lehtonen, S. (Siri), Korpi, J. T. (Jarkko T), Lappi-Blanco, E. (Elisa), Anttila, V. (Vesa), Lehenkari, P. (Petri), Juvonen, T. (Tatu), Blanco Sequieros, R. (Roberto), Korpi, R. M. (Riikka M), Alestalo, K. (Kirsi), Ruuska, T. (Timo), Lammentausta, E. (Eveliina), Borra, R. (Ronald), Yannopoulos, F. (Fredrik), Lehtonen, S. (Siri), Korpi, J. T. (Jarkko T), Lappi-Blanco, E. (Elisa), Anttila, V. (Vesa), Lehenkari, P. (Petri), Juvonen, T. (Tatu), and Blanco Sequieros, R. (Roberto)
Abstract: Background: Acute myocardial infarction (AMI) is a leading cause of morbidity and mortality worldwide. Cellular decay due hypoxia requires rapid and validated methods for possible therapeutic cell transplantation. Purpose: To develop direct and rapid superparamagnetic iron oxide (SPIO) cell label for a large-animal model and to assess in vivo cell targeting by magnetic resonance imaging (MRI) in an experimental AMI model. Material and Methods: Bone marrow mononuclear cells (BMMNCs) were labeled with SPIO particles using two novel direct labeling methods (rotating incubation method and electroporation). Labeling, iron incorporation in cells and label distribution, cellular viability, and proliferation were validated in vitro. An AMI porcine model was used to evaluate the direct labeling method (rotating incubation method) by examining targeting of labeled BMMNCs using MRI and histology. Results: Labeling (1 h) did not alter either cellular differentiation potential or viability of cells in vitro. Cellular relaxation values at 9.4 T correlated with label concentration and MRI at 1.5 T showing 89 ± 4% signal reduction compared with non-labeled cells in vitro. In vivo, a high spatial correlation between MRI and histology was observed. The extent of macroscopic pathological myocardial changes (hemorrhage) correlated with altered function detected on MRI. Conclusion: We demonstrated two novel direct SPIO labeling methods and demonstrated the feasibility of clinical MRI for monitoring targeting of the labeled cells in animal models of AMI.
Published: 2017

102. Remote ischemic preconditioning in aortic surgery:experimental studies with a porcine model

Author: Juvonen, T. (Tatu), Anttila, V. (Vesa), Herajärvi, J. (Johanna), Juvonen, T. (Tatu), Anttila, V. (Vesa), and Herajärvi, J. (Johanna)
Abstract: During cardiac and aortic surgery, disturbance of the blood supply in the central nervous system occurs when the repair of aortic pathologies is performed or a bloodless operation field is needed in complex cardiac surgery. To enable the suitable operation environment, the technique named hypothermic circulatory arrest (HCA) has been utilized via heart-lung machine. In this method, the core temperature is lowered to the target temperature, after which blood circulation is halted for a certain period of time. A challenge is that the successful usage of HCA, however still involves the risks of postoperative neurological complications and mortality. In cardiac and aortic arch surgery, the brain is at the highest risk for deficits, whereas in the repair of thoracoabdominal aortic aneurysms (TAAAs), spinal cord injury remains the most severe adverse outcome. Adjunctive protective strategies are required to reduce ischemic injury in these settings. In this thesis, Studies I and II focused on the spinal cord and the Study III on the brain. The studies were performed using acute (II, III) or subacute (I) experimental porcine models, primarily aiming to assess the effectiveness of remote ischemic preconditioning (RIPC) in spinal cord protection along with the aim of studying the underlying mechanisms of RIPC in neuroprotection. Studies I and II demonstrated enhanced motor evoked potential (MEP) responses in both hind limbs, indicating spinal cord protection by RIPC. The faster recovery of brain damage marker S100B along with higher cardiac index and lower systemic lactate levels confirmed the cardio- and neuroprotective properties of RIPC in Study III. The protective mechanism of RIPC was associated with increased antioxidant response (II, III)., Tiivistelmä Sydän- ja aorttakirurgiassa, keskushermoston verenkiertoa joudutaan häiritsemään toteutettaessa aortan korjausleikkauksia tai vaikeissa sydänkirurgisissa toimenpiteissä verettömän leikkausalueen saavuttamiseksi. Sydän-keuhkokoneen avulla toteutettava täydellinen verenkierron pysäytys mahdollistaa vaaditut olosuhteet. Tässä menetelmässä ydinlämpötilaa lasketaan ja verenkierron pysäytys toteutaan tavoitellussa kohdelämpötilassa tietyssä aikaikkunassa. Kyseisen menetelmän onnistunut käyttö sisältää kuitenkin riskejä operaatioiden jälkeisiin neurologisiin komplikaatioihin ja kuolleisuuteen. Sydämen ja aortankaaren kirurgiassa aivot ovat suurimmassa vaarassa vaurioille. Rinta- ja vatsa-aortan aneurysmien eli pullistumien korjausleikkauksiin liittyvä selkäydinvaurio on puolestaan yksi vakavimmista ja vaikeimmista seurauksista. Lisäsuojausmenetelmiä tarvitaan vähentämään iskeemistä vauriota näissä asetelmissa. Väitöskirjan osatyöt I ja II keskittyivät selkäytimeen. Osatyö III käsitteli puolestaan aivojen suojausta. Osatyöt toteutettiin akuutteina (II, III) ja subakuutteina (I) kokeellisina porsasmalleina. Tutkimusten tavoitteina oli arvioida esialtistavan perifeerisen raajaiskemian vaikuttavuutta selkäytimen suojauksessa sekä tutkia raajaiskemian taustalla olevia mekanismeja hermokudoksen suojauksessa. Osatöissä I, II havaittiin motoristen herätepotentiaalien parantuneita vasteita molemmissa takajaloissa osoittaen esialtistavan raajaiskemian suojaavan selkäydintä simuloidussa rinta-aortan korjaustoimenpiteessä. Osatyö III keskittyi alhaisessa lämpötilassa toteutettavaan täydelliseen verenkierron pysäytykseen. Tässä tutkimuksessa todetut aivovauriomarkkeri S100B tason nopeampi lasku, korkeampi sydänindeksi ja alhaisemmat laktaattitasot varmistivat raajaiskemian sydän- ja hermokudossuojausvaikutusta. Esialtistavan perifeerisen raajaiskemian suojaava mekanismi voidaan liittää parantuneeseen solujen antioksidanttivasteeseen (II, III).
Published: 2017

103. Remote ischemic precondition before hypothermic circulatory arrest in a porcine model:a special reference to oxidative stress

Author: Juvonen, T. (Tatu), Anttila, V. (Vesa), Arvola, O. (Oiva), Juvonen, T. (Tatu), Anttila, V. (Vesa), and Arvola, O. (Oiva)
Abstract: In pathologies of the ascending aorta or in congenital heart defects, circulation may be temporarily halted during surgical intervention. This is achieved by operating under deep hypothermic circulatory arrest or under hypothermia combined with isolated perfusion techniques. For deep hypothermic circulatory arrest (DHCA), the patient is cooled below 18°C using an extracorporeal heart-lung machine, and circulation and breathing are stopped. The advantage of hypothermia is that it decreases oxygen and glucose consumption and provides the surgeons the time required to repair complex heart defects. However, there is still a relatively high risk of neurological complications that can affect the quality of life of patients and their families. One of the methods to mitigate ischaemia-reperfusion injury is remote ischaemic preconditioning. In this work, the neuroprotective mechanisms of remote ischaemic preconditioning (RIPC) were studied in acute and surviving chronic animal models. In study I, we used an acute model, and studied the effects of RIPC in cerebral microcirculation using an intravital microscope and samples analysed by transmission electron microscope. In study II, a chronic model was used to evaluate whether the effects of remote ischaemic preconditioning can be seen in the markers of oxidative stress or in redox-regulating enzymes. Study III was conducted to supplement the findings of study II, considering the markers of oxidative stress. Findings in all studies were consistent with one another. Study I showed the effect of remote ischaemic preconditioning on leukocyte activation and adhesion to cerebrocortical vessels in piglets after prolonged DHCA. Additionally, cellular preservation of endoplasmic reticulum was present in transmission electron microscope analysis of the central nervous system. In studies II and III, the remote ischaemic preconditioning lowered markers of ischaemia-reperfusion-related oxidative stress. In study III the remote isc, Tiivistelmä Hoidettaessa nousevan aortan sairauksia ja synnynnäisiä sydänvikoja verenkierto voidaan tilapäisesti pysäyttää kirurgisten toimenpiteiden ajaksi. Tämä saavutetaan jäähdyttämällä elimistö verenkierron pysäytyksen ajaksi tai jäähdytettynä isoloitujen perfuusiotekniikoiden avulla. Potilas jäähdytetään alle 18 °C lämpötilaan käyttäen kehonulkoista sydän-keuhkokonetta, minkä jälkeen verenkierto ja hengitys voidaan väliaikaisesti pysäyttää. Elimistön viilentäminen vähentää hapen ja glukoosin kulutusta ja antaa kirurgeille aikaa korjata monimutkaisia sydänsairauksia. Verenkierron pysäytyksestä ja palauttamisesta voi ilmaantua keskushermostoon iskemia-reperfuusiovaurioita, mitkä vaikuttavat potilaiden ja heidän läheistensä elämänlaatuun. Esialtistava raajaiskemia on yksi tutkituista menetelmistä lieventää iskemia-reperfuusiovauriota. Tässä työssä esialtistavan raajaiskemian hermostoa suojaavia mekanismeja tutkittiin akuutilla ja kroonisilla koe-eläinmalleilla. Tutkimuksessa I tutkimme esialtistavan raajaiskemian vaikutuksia aivojen mikroverenkiertoon kuvaamalla aivojen pintaverisuonia mikroskoopilla, ja hermosoluihin käyttäen läpäisyelektronimikroskooppia. Tutkimuksessa II kroonisella mallilla tutkittiin voiko esialtistavan raajaiskemian vaikutuksia nähdä oksidatiivisen stressin määrässä tai hapetus-pelkistys reaktioita säätelevissä entsyymeissä. Kolmas tutkimus tehtiin toisen tutkimuksen päätelmien täydentämiseksi mitaten oksidatiivista stressiä. Kaikkien osatöiden löydökset olivat keskenään johdonmukaisia. Ensimmäisessä osatyössä esialtistava raajaiskemia vaikutti leukosyyttiaktivaatioon ja leukosyyttien tarttumiseen aivojen pintaverisuoniin pidennetyn hypotermisen verenkierron seisautuksen jälkeen. Myös hermosolujen sisäisten soluelinten säilyminen näkyi läpäisyelektronimikroskoopilla raajaiskemiaryhmällä. Tutkimuksissa II ja III esialtistava raajaiskemian todettiin alentavan iskemia-reperfuusion aiheuttamaa oksidatiivista stressiä, jonka todettiin tapahtuvan
Published: 2017

104. Obstetric and neonatal complications in pregnancies conceived after oocyte donation:a systematic review and meta-analysis

Author: Storgaard, M., Loft, A., Bergh, C., Wennerholm, UB, Söderström-Anttila, V., Romundstad, LB, Aittomaki, K., Oldereid, N., Forman, J., Pinborg, A., Storgaard, M., Loft, A., Bergh, C., Wennerholm, UB, Söderström-Anttila, V., Romundstad, LB, Aittomaki, K., Oldereid, N., Forman, J., and Pinborg, A.
Abstract: BACKGROUND Approximately 50 000 oocyte donation (OD) treatment cycles are now performed annually in Europe and the US. OBJECTIVES To ascertain whether the risk of adverse obstetric and perinatal/neonatal outcomes is higher in pregnancies conceived by OD than in pregnancies conceived by conventional in-vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) or spontaneously. SEARCH STRATEGY A systematic search was performed in the PubMed, Cochrane and Embase databases from 1982-2016. Primary outcomes were hypertensive disorders of pregnancy, pre-eclampsia (PE), gestational diabetes mellitus, postpartum haemorrhage, caesarean section, preterm birth, low birthweight and small for gestational age. SELECTION CRITERIA Inclusion criteria were original studies including at least five OD pregnancies with a control group of pregnancies conceived by conventional IVF/ICSI or spontaneous conception, and case series with >500 cases reporting one or more of the selected complications. Studies not adjusting for plurality were excluded. DATA COLLECTION AND ANALYSIS Thirty-five studies met the inclusion criteria. A random-effects model was used for the meta-analyses. MAIN RESULTS For OD pregnancies versus conventional IVF/ICSI pregnancies the risk of PE was adjusted odds ratio (AOR) 2.11 (95% CI, 1.42-3.15) in singleton and AOR 3.31 (95% CI, 1.61-6.80) in multiple pregnancies. The risks of preterm birth and low birthweight in singletons were AOR 1.75 (95% CI, 1.39-2.20) and 1.53 (95% CI, 1.16-2.01), respectively. CONCLUSIONS OD conceptions are associated with adverse obstetric and neonatal outcomes. To avoid the additional increase in risk from multiplicity, single-embryo transfer should be the choice of option in OD cycles. TWEETABLE ABSTRACT Oocyte donation pregnancies have increased risk of a range of obstetric and neonatal complications., Background: Approximately 50 000 oocyte donation (OD) treatment cycles are now performed annually in Europe and the US.Objectives: To ascertain whether the risk of adverse obstetric and perinatal/neonatal outcomes is higher in pregnancies conceived by OD than in pregnancies conceived by conventional in-vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) or spontaneously.Search Strategy: A systematic search was performed in the PubMed, Cochrane and Embase databases from 1982–2016. Primary outcomes were hypertensive disorders of pregnancy, pre-eclampsia (PE), gestational diabetes mellitus, postpartum haemorrhage, caesarean section, preterm birth, low birthweight and small for gestational age.Selection criteria: Inclusion criteria were original studies including at least five OD pregnancies with a control group of pregnancies conceived by conventional IVF/ICSI or spontaneous conception, and case series with >500 cases reporting one or more of the selected complications. Studies not adjusting for plurality were excluded.Data collection and analysis: Thirty-five studies met the inclusion criteria. A random-effects model was used for the meta-analyses.Main results: For OD pregnancies versus conventional IVF/ICSI pregnancies the risk of PE was adjusted odds ratio (AOR) 2.11 (95% CI, 1.42–3.15) in singleton and AOR 3.31 (95% CI, 1.61–6.80) in multiple pregnancies. The risks of preterm birth and low birthweight in singletons were AOR 1.75 (95% CI, 1.39–2.20) and 1.53 (95% CI, 1.16–2.01), respectively.Conclusions: OD conceptions are associated with adverse obstetric and neonatal outcomes. To avoid the additional increase in risk from multiplicity, single-embryo transfer should be the choice of option in OD cycles.
Published: 2017

105. IFITM3 restricts the morbidity and mortality associated with influenza

Author: Everitt AR1, Clare S, Pertel T, John SP, Wash RS, Smith SE, Chin CR, Feeley EM, Sims JS, Adams DJ, Wise HM, Kane L, Goulding D, Digard P, Anttila V, Baillie JK, Walsh TS, Hume DA, Palotie A, Xue Y, Colonna V, Tyler-Smith C, Dunning J, Gordon SB, GenISIS Investigators, MOSAIC Investigators, Smyth RL, Openshaw PJ, Dougan G, Brass AL, Kellam P. Johnston SL, Kon OM, Everitt AR1, Clare S, Pertel T, John SP, Wash RS, Smith SE, Chin CR, Feeley EM, Sims JS, Adams DJ, Wise HM, Kane L, Goulding D, Digard P, Anttila V, Baillie JK, Walsh TS, Hume DA, Palotie A, Xue Y, Colonna V, Tyler-Smith C, Dunning J, Gordon SB, MOSAIC Investigators, Smyth RL, Openshaw PJ, Dougan G, Brass AL, Kellam P. Johnston SL, and Kon OM
Published: 2012

106. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

Author: O’dushlaine, C, Rossin, L, Lee, PH, Duncan, L, Parikshak, NN, Newhouse, S, Ripke, S, Neale, BM, Purcell, SM, Posthuma, D, Nurnberger, JI, Lee, SH, Faraone, SV, Perlis, RH, Mowry, BJ, Thapar, A, Goddard, ME, Witte, JS, Absher, D, Agartz, I, Akil, H, Amin, F, Andreassen, OA, Anjorin, A, Anney, R, Anttila, V, Arking, DE, Asherson, P, Azevedo, MH, Backlund, L, Badner, JA, Bailey, AJ, Banaschewski, T, Barchas, JD, Barnes, MR, Barrett, TB, Bass, N, Battaglia, A, Bauer, M, Bayés, M, Bellivier, F, Bergen, SE, Berrettini, W, Betancur, C, Bettecken, T, Biederman, J, Binder, EB, Black, DW, Blackwood, DHR, Bloss, CS, Boehnke, M, Boomsma, DI, Breuer, R, Bruggeman, R, Cormican, P, Buccola, NG, Buitelaar, JK, Bunney, WE, Buxbaum, JD, Byerley, WF, Byrne, EM, Caesar, S, Cahn, W, Cantor, RM, Casas, M, Chakravarti, A, Chambert, K, Choudhury, K, and Cichon, S
Abstract: © 2015 Nature America, Inc. All rights reserved. Genome-wide association studies (GWAS) of psychiatric disorders have identified multiple genetic associations with such disorders, but better methods are needed to derive the underlying biological mechanisms that these signals indicate. We sought to identify biological pathways in GWAS data from over 60,000 participants from the Psychiatric Genomics Consortium. We developed an analysis framework to rank pathways that requires only summary statistics. We combined this score across disorders to find common pathways across three adult psychiatric disorders: schizophrenia, major depression and bipolar disorder. Histone methylation processes showed the strongest association, and we also found statistically significant evidence for associations with multiple immune and neuronal signaling pathways and with the postsynaptic density. Our study indicates that risk variants for psychiatric disorders aggregate in particular biological pathways and that these pathways are frequently shared between disorders. Our results confirm known mechanisms and suggest several novel insights into the etiology of psychiatric disorders.
Published: 2015
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107. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author: Jacobsen, K.K., Nievergelt, C.M., Zayats, T., Greenwood, T.A., Anttila, V., Akiskal, H.S., Haavik, J., Fasmer, O.B., Kelsoe, J.R., Johansson, S., Oedegaard, K.J., and BiGs Consortium IHG Consortium
Subjects: Bipolar disorder, Genetics, Neurobeachin, Migraine, NBEA
Published: 2015

108. Shared genetic basis for migraine and ischemic stroke

Author: Malik, R, Freilinger, T, Winsvold, BS, Anttila, V, Vander Heiden, J, Traylor, M, De Vries, B, Holliday, EG, Terwindt, GM, Sturm, J, Bis, JC, Hopewell, JC, Ferrari, MD, Rannikmae, K, Wessman, M, Kallela, M, Kubisch, C, Fornage, M, Meschia, JF, Lehtimäki, T, Sudlow, C, Clarke, R, Chasman, DI, Mitchell, BD, Maguire, J, Kaprio, J, Farrall, M, Raitakari, OT, Kurth, T, Ikram, MA, Reiner, AP, Longstreth, WT, Rothwell, PM, Strachan, DP, Sharma, P, Seshadri, S, Quaye, L, Cherkas, L, Schürks, M, Rosand, J, Ligthart, L, Boncoraglio, GB, Davey Smith, G, Van Duijn, CM, Stefansson, K, Worrall, BB, Nyholt, DR, Markus, HS, Van Den Maagdenberg, AMJM, Cotsapas, C, Zwart, JA, Palotie, A, and Dichgans, M
Subjects: Migraine without Aura, Stroke, Neurology & Neurosurgery, Migraine with Aura, Medizin, Humans, Brain Ischemia, Genome-Wide Association Study
Abstract: © 2015 American Academy of Neurology. Objective: To quantify genetic overlap between migraine and ischemic stroke (IS) with respect to common genetic variation. Methods: We applied 4 different approaches to large-scale meta-analyses of genome-wide data on migraine (23,285 cases and 95,425 controls) and IS (12,389 cases and 62,004 controls). First, we queried known genome-wide significant loci for both disorders, looking for potential overlap of signals. We then analyzed the overall shared genetic load using polygenic scores and estimated the genetic correlation between disease subtypes using data derived from these models. We further interrogated genomic regions of shared risk using analysis of covariance patterns between the 2 phenotypes using cross-phenotype spatial mapping. Results: We found substantial genetic overlap between migraine and IS using all 4 approaches. Migraine without aura (MO) showed much stronger overlap with IS and its subtypes than migraine with aura (MA). The strongest overlap existed between MO and large artery stroke (LAS; p 6.4 × 10-28 for the LAS polygenic score in MO) and between MO and cardioembolic stroke (CE; p 2.7 × 10-20 for the CE score in MO). Conclusions: Our findings indicate shared genetic susceptibility to migraine and IS, with a particularly strong overlap between MO and both LAS and CE pointing towards shared mechanisms. Our observations on MA are consistent with a limited role of common genetic variants in this subtype.
Published: 2015

109. VACCINATIONS IN PATIENTS WITH CHRONIC INFLAMMATORY DISEASES, PATIENT KNOWLEDGE AND AWARENESS: RESULTS FROM A NORDIC SURVEY.

Author: Kapetanovic, M. C., Mandla, R., Seddighzadeh, M., Gren, S. Thiesen, Palmroth, M., Henrohn, D., Frostrup, A. G., Hiltunen, A. M., Ranta, J., Asikainen, A. K., and Anttila, V. J.
Published: 2023
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110. Obstetric and neonatal complications in pregnancies conceived after oocyte donation: a systematic review and meta-analysis.

Author: Storgaard, M, Loft, A, Bergh, C, Wennerholm, UB, Söderström‐Anttila, V, Romundstad, LB, Aittomaki, K, Oldereid, N, Forman, J, Pinborg, A, Wennerholm, U B, Söderström-Anttila, V, and Romundstad, L B
Subjects: EMBRYO implantation, OVUM donation, HUMAN in vitro fertilization, HYPERTENSION in pregnancy, PREECLAMPSIA, GESTATIONAL diabetes, CESAREAN section, FERTILIZATION in vitro, EVALUATION of medical care, META-analysis, PREGNANCY, PREGNANCY complications, SYSTEMATIC reviews
Abstract: Background: Approximately 50 000 oocyte donation (OD) treatment cycles are now performed annually in Europe and the US.Objectives: To ascertain whether the risk of adverse obstetric and perinatal/neonatal outcomes is higher in pregnancies conceived by OD than in pregnancies conceived by conventional in-vitro fertilisation (IVF)/intracytoplasmic sperm injection (ICSI) or spontaneously.Search Strategy: A systematic search was performed in the PubMed, Cochrane and Embase databases from 1982-2016. Primary outcomes were hypertensive disorders of pregnancy, pre-eclampsia (PE), gestational diabetes mellitus, postpartum haemorrhage, caesarean section, preterm birth, low birthweight and small for gestational age.Selection Criteria: Inclusion criteria were original studies including at least five OD pregnancies with a control group of pregnancies conceived by conventional IVF/ICSI or spontaneous conception, and case series with >500 cases reporting one or more of the selected complications. Studies not adjusting for plurality were excluded.Data Collection and Analysis: Thirty-five studies met the inclusion criteria. A random-effects model was used for the meta-analyses.Main Results: For OD pregnancies versus conventional IVF/ICSI pregnancies the risk of PE was adjusted odds ratio (AOR) 2.11 (95% CI, 1.42-3.15) in singleton and AOR 3.31 (95% CI, 1.61-6.80) in multiple pregnancies. The risks of preterm birth and low birthweight in singletons were AOR 1.75 (95% CI, 1.39-2.20) and 1.53 (95% CI, 1.16-2.01), respectively.Conclusions: OD conceptions are associated with adverse obstetric and neonatal outcomes. To avoid the additional increase in risk from multiplicity, single-embryo transfer should be the choice of option in OD cycles.Tweetable Abstract: Oocyte donation pregnancies have increased risk of a range of obstetric and neonatal complications. [ABSTRACT FROM AUTHOR]
Published: 2017
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111. Genetic influences on schizophrenia and subcortical brain volumes: large-scale proof of concept

Author: Franke, B., Stein, J.L., Ripke, S., Anttila, V., Hibar, D.P., Hulzen, K.J.E. van, Arias Vasquez, A., Smoller, J.W., Nichols, T.E., Neale, M.C., McIntosh, A.M., Lee, P., McMahon, F.J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O.A., Gruber, O., Sachdev, P.S., Roiz-Santianez, R., Saykin, A.J., Ehrlich, S., Mather, K.A., Turner, J.A., Schwarz, E., Thalamuthu, A., Yao, Y., Ho, Y.Y., Martin, N.G., Wright, M.J., O'Donovan, M.C., Thompson, P.M., Neale, B.M., Medland, S.E., Sullivan, P.F., Franke, B., Stein, J.L., Ripke, S., Anttila, V., Hibar, D.P., Hulzen, K.J.E. van, Arias Vasquez, A., Smoller, J.W., Nichols, T.E., Neale, M.C., McIntosh, A.M., Lee, P., McMahon, F.J., Meyer-Lindenberg, A., Mattheisen, M., Andreassen, O.A., Gruber, O., Sachdev, P.S., Roiz-Santianez, R., Saykin, A.J., Ehrlich, S., Mather, K.A., Turner, J.A., Schwarz, E., Thalamuthu, A., Yao, Y., Ho, Y.Y., Martin, N.G., Wright, M.J., O'Donovan, M.C., Thompson, P.M., Neale, B.M., Medland, S.E., and Sullivan, P.F.
Abstract: Contains fulltext : 165646pub.pdf (publisher's version ) (Closed access), Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders.
Published: 2016

112. Genetic influences on schizophrenia and subcortical brain volumes: Large-scale proof of concept

Author: Franke, B, van Hulzen, KJE, Arias-Vasquez, A, Bralten, J, Hoogman, M, Klein, M, van Donkelaar, MMJ, Hakobjan, MMH, Heister, AJGAM, Makkinje, RRR, Naber, MAM, van der Marel, SSL, Mostert, JC, Brunner, HG, van Bokhoven, H, Zwiers, MP, Buitelaar, JK, Fernández, G, Fisher, SE, Francks, C, Stein, JL, Hibar, DP, Thompson, PM, Ripke, S, Anttila, V, Neale, BM, Farh, KH, Bulik-Sullivan, B, Huang, H, Fromer, M, Goldstein, JI, Daly, MJ, Walters, RK, Smoller, JW, Lee, P, Belliveau, RA, Bergen, SE, Bevilacqua, E, Chambert, KD, Genovese, G, O'Dushlaine, C, Scolnick, EM, McCarroll, SA, Moran, JL, Palotie, A, Petryshen, TL, Erk, S, Heinz, A, Mohnke, S, Romanczuk-Seiferth, N, Walter, H, DeLisi, LE, McCarley, RW, Mesholam-Gately, RI, Seidman, LJ, Nichols, TE, Neale, MC, McIntosh, AM, Papmeyer, M, Sprooten, E, Lawrie, SM, Sussmann, JE, McMahon, FJ, Yao, Y, Meyer-Lindenberg, A, Schwarz, E, Grimm, O, Mattheisen, M, Agerbo, E, Demontis, D, Hansen, T, Mors, O, Olsen, L, Rasmussen, HB, Børglum, AD, Mortensen, PB, Werge, T, Andreassen, OA, Brown, AA, Athanasiu, L, Hartberg, CB, Haukvik, U, Melle, I, Gruber, O, Kraemer, B, Keil, M, Sachdev, PS ; https://orcid.org/0000-0002-9595-3220, Mather, KA ; https://orcid.org/0000-0003-4143-8941, Thalamuthu, A ; https://orcid.org/0000-0002-7114-1260, Armstrong, NJ, Assareh, AA, Brodaty, H, Reppermund, S ; https://orcid.org/0000-0003-4785-0224, Wen, W ; https://orcid.org/0000-0003-2753-3870, Roiz-Santiañez, R, Perez-Iglesias, R, Saykin, AJ, Kim, S, Nho, K, Risacher, SL, Schofield, Peter ; https://orcid.org/0000-0003-2967-9662, Carr, Vaughan ; https://orcid.org/0000-0002-8907-5804, Kwok, John ; https://orcid.org/0000-0001-9574-6195, Schofield, Peter, Franke, B, van Hulzen, KJE, Arias-Vasquez, A, Bralten, J, Hoogman, M, Klein, M, van Donkelaar, MMJ, Hakobjan, MMH, Heister, AJGAM, Makkinje, RRR, Naber, MAM, van der Marel, SSL, Mostert, JC, Brunner, HG, van Bokhoven, H, Zwiers, MP, Buitelaar, JK, Fernández, G, Fisher, SE, Francks, C, Stein, JL, Hibar, DP, Thompson, PM, Ripke, S, Anttila, V, Neale, BM, Farh, KH, Bulik-Sullivan, B, Huang, H, Fromer, M, Goldstein, JI, Daly, MJ, Walters, RK, Smoller, JW, Lee, P, Belliveau, RA, Bergen, SE, Bevilacqua, E, Chambert, KD, Genovese, G, O'Dushlaine, C, Scolnick, EM, McCarroll, SA, Moran, JL, Palotie, A, Petryshen, TL, Erk, S, Heinz, A, Mohnke, S, Romanczuk-Seiferth, N, Walter, H, DeLisi, LE, McCarley, RW, Mesholam-Gately, RI, Seidman, LJ, Nichols, TE, Neale, MC, McIntosh, AM, Papmeyer, M, Sprooten, E, Lawrie, SM, Sussmann, JE, McMahon, FJ, Yao, Y, Meyer-Lindenberg, A, Schwarz, E, Grimm, O, Mattheisen, M, Agerbo, E, Demontis, D, Hansen, T, Mors, O, Olsen, L, Rasmussen, HB, Børglum, AD, Mortensen, PB, Werge, T, Andreassen, OA, Brown, AA, Athanasiu, L, Hartberg, CB, Haukvik, U, Melle, I, Gruber, O, Kraemer, B, Keil, M, Sachdev, PS ; https://orcid.org/0000-0002-9595-3220, Mather, KA ; https://orcid.org/0000-0003-4143-8941, Thalamuthu, A ; https://orcid.org/0000-0002-7114-1260, Armstrong, NJ, Assareh, AA, Brodaty, H, Reppermund, S ; https://orcid.org/0000-0003-4785-0224, Wen, W ; https://orcid.org/0000-0003-2753-3870, Roiz-Santiañez, R, Perez-Iglesias, R, Saykin, AJ, Kim, S, Nho, K, Risacher, SL, Schofield, Peter ; https://orcid.org/0000-0003-2967-9662, Carr, Vaughan ; https://orcid.org/0000-0002-8907-5804, Kwok, John ; https://orcid.org/0000-0001-9574-6195, and Schofield, Peter
Abstract: Schizophrenia is a devastating psychiatric illness with high heritability. Brain structure and function differ, on average, between people with schizophrenia and healthy individuals. As common genetic associations are emerging for both schizophrenia and brain imaging phenotypes, we can now use genome-wide data to investigate genetic overlap. Here we integrated results from common variant studies of schizophrenia (33,636 cases, 43,008 controls) and volumes of several (mainly subcortical) brain structures (11,840 subjects). We did not find evidence of genetic overlap between schizophrenia risk and subcortical volume measures either at the level of common variant genetic architecture or for single genetic markers. These results provide a proof of concept (albeit based on a limited set of structural brain measures) and define a roadmap for future studies investigating the genetic covariance between structural or functional brain phenotypes and risk for psychiatric disorders.
Published: 2016

113. Gene co-expression analysis identifies brain regions and cell types involved in migraine pathophysiology: a GWAS-based study using the Allen Human Brain Atlas

Author: Eising, E, Huisman, S M H, Mahfouz, A, Vijfhuizen, LS, Anttila, V, Winsvold, BS, Kurth, T, Ikram, Arfan, Freilinger, T, Kaprio, J, Boomsma, DI, Duijn, Cornelia, Jarvelin, M R R, Zwart, JA, Quaye, L, Strachan, DP, Kubisch, C, Dichgans, M, Smith, GD, Stefansson, K, Palotie, A, Chasman, DI, Ferrari, MD, Terwindt, GM, de Vries, B, Nyholt, DR, Lelieveldt, BPF, Maagdenberg, AMJM, Reinders, MJT, Eising, E, Huisman, S M H, Mahfouz, A, Vijfhuizen, LS, Anttila, V, Winsvold, BS, Kurth, T, Ikram, Arfan, Freilinger, T, Kaprio, J, Boomsma, DI, Duijn, Cornelia, Jarvelin, M R R, Zwart, JA, Quaye, L, Strachan, DP, Kubisch, C, Dichgans, M, Smith, GD, Stefansson, K, Palotie, A, Chasman, DI, Ferrari, MD, Terwindt, GM, de Vries, B, Nyholt, DR, Lelieveldt, BPF, Maagdenberg, AMJM, and Reinders, MJT
Published: 2016

114. Obstetric and neonatal complications in pregnancies conceived after oocyte donation: a systematic review and meta-analysis

Author: Storgaard, M, primary, Loft, A, additional, Bergh, C, additional, Wennerholm, UB, additional, Söderström-Anttila, V, additional, Romundstad, LB, additional, Aittomaki, K, additional, Oldereid, N, additional, Forman, J, additional, and Pinborg, A, additional
Published: 2016
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115. Genotyping the Risk of Migraine Chronification: The CHROMIG Study

Author: Fernandez-Morales, J., Vries, B., Winsvold, B., Anttila, V., Fernandez-Cadenas, I., Louter, M., Vila-Pueyo, M., Cormand, B., Alvarez-Sabin, J., Joan Montaner, Den Maagdenberg, A., Palotie, A., Zwart, J. A., Macaya, A., Terwindt, G. M., and Pozo-Rosich, P.
Published: 2013

116. Genome-Wide Association Study to Identify Common Variants Associated with Brachial Circumference: A Meta-Analysis of 14 Cohorts

Author: Boraska, V, Day-Williams, A, Franklin, CS, Elliott, KS, Panoutsopoulou, K, Tachmazidou, I, Albrecht, E, Bandinelli, S, Beilin, L, Bochud, M, Cadby, G, Ernst, F, Evans, David M., Hayward, C, Hicks, AA, Huffman, Jennifer, Huth, C, James, AL, Klopp, N, Kolcic, I, Kutalik, Z, Lawlor, Debbie A., Musk, AW, Pehlic, M, Pennell, CE, Perry, JRB, Peters, Annette, Polasek, O, St Pourcain, B, Ring, SM, Salvi, E, Schipf, S, Staessen, JA, Teumer, A, Timpson, N, Vitart, V, Warrington, NM, Yaghootkar, H, Zemunik, T, Zgaga, L, An, P, Anttila, V, Borecki, IB, Holmen, Jostein, Ntalla, I, Palotie, A, Pietilainen, KH, Wedenoja, J, Winsvold, Bendik Kristoffer Slagsvold, Dedoussis, GV, Kaprio, J, Province, MA, Zwart, John-Anker, Burnier, M, Campbell, H, Cusi, D, Smith, GD, Frayling, TM, Gieger, C, Palmer, LJ, Pramstaller, PP, Rudan, I, Volzke, H, Wichmann, HE, Wright, AF, and Zeggini, E
Abstract: Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the complex pathophysiology behind overweight and obesity. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS) meta-analysis. We used fixed-effects meta-analysis to synthesise summary results across 14 GWAS discovery and 4 replication cohorts comprising overall 22,376 individuals (12,031 women and 10,345 men) of European ancestry. Individual analyses were carried out for men, women, and combined across sexes using linear regression and an additive genetic model: adjusted for age and adjusted for age and BMI. We prioritised signals for follow-up in two-stages. We did not detect any signals reaching genome-wide significance. The FTO rs9939609 SNP showed nominal evidence for association (p
Published: 2012

117. Genome-wide association study to identify common variants associated with brachial circumference: a meta-analysis of 14 cohorts

Author: Boraska, Vesna, Day-Williams, A, Franklin, CS, Elliott, KS, Panoutsopoulou, K, Tachmazidou, I, Albrecht, E, Bandinelli, S, Beilin, LJ, Bochud, M, Cadby, G, Ernst, F, Evans, DM, Hayward, Caroline, Hicks, AA, Huffman, J, Huth, C, James, AL, Klopp, N, Kolcic, Ivana, Kutalik, Z, Lawlor, DA, Musk, AW, Pehlic, Marina, Pennell, CE, Perry, JR, Peters, A, Polasek, Ozren, St Pourcain, B, Ring, SM, Salvi, E, Schipf, S, Staessen, JA, Teumer, A, Timpson, N, Vitart, V, Warrington, NM, Yaghootkar, H, Zemunik, Tatijana, Zgaga, Lina, An, P, Anttila, V, Borecki, IB, Holmen, J, Ntalla, I, Palotie, A, Pietiläinen, KH, Wedenoja, J, Winsvold, BS, Dedoussis, GV, Kaprio, J, Province, MA, Zwart, JA, Burnier, M, Campbell. H, Cusi, D, Smith, GD, Frayling, TM, Gieger, C, Palmer, LJ, Pramstaller, PP, Rudan, Igor, Völzke, H, Wichmann, HE, Wright, AF, and Zeggini, E
Subjects: Brachial circumference, genetic variants, genome-wide association scan (GWAS) meta-analysis
Abstract: Brachial circumference (BC), also known as upper arm or mid arm circumference, can be used as an indicator of muscle mass and fat tissue, which are distributed differently in men and women. Analysis of anthropometric measures of peripheral fat distribution such as BC could help in understanding the complex pathophysiology behind overweight and obesity. The purpose of this study is to identify genetic variants associated with BC through a large-scale genome-wide association scan (GWAS) meta-analysis. We used fixed-effects meta-analysis to synthesise summary results across 14 GWAS discovery and 4 replication cohorts comprising overall 22, 376 individuals (12, 031 women and 10, 345 men) of European ancestry. Individual analyses were carried out for men, women, and combined across sexes using linear regression and an additive genetic model: adjusted for age and adjusted for age and BMI. We prioritised signals for follow-up in two-stages. We did not detect any signals reaching genome-wide significance. The FTO rs9939609 SNP showed nominal evidence for association (p
Published: 2012

118. Genome-wide association study reveals three susceptibility loci for common migraine in the general population

Author: Chasman, D.I., Schurks, M., Anttila, V., Vries, B. de, Schminke, U., Launer, L.J., Terwindt, G.M., Maagdenberg, A.M.J.M. van den, Fendrich, K., Volzke, H., Ernst, F., Griffiths, L.R., Buring, J.E., Kallela, M., Freilinger, T., Kubisch, C., Ridker, P.M., Palotie, A., Ferrari, M.D., Hoffmann, W., Zee, R.Y.L., Kurth, T., and IHGC
Published: 2011

119. 156 Increasing incidence of blood-culture positive infectious complications following transrectal prostate biopsies

Author: Lahdensuo, M.K., primary, Rannikko, A., additional, Anttila, V-J., additional, Erickson, A., additional, Pätäri-Sampo, A., additional, Rautio, M., additional, Santti, H., additional, Tarkka, E., additional, Vaara, M., additional, and Huotari, K., additional
Published: 2016
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120. Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways.

Author: O'Dushlaine, C., Rossin, L., Lee, P.H., Duncan, L., Parikshak, N.N., Newhouse, S., Ripke, S., Neale, B.M., Purcell, S., Posthuma, D., Nurnberger, J.I., Lee, S.H., Faraone, S.V., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Mattheisen, M., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G., Doyle, A., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A., Ferrier, I.N., Flickinger, M., Foroud, T.M., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Freitag, C.M., Friedl, M., Frisen, L., Gallagher, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Grice, D.E., Gross, M., Grozeva, D., Guan, W., Gurling, H., Haan, L. de, Haines, J.L., Hakonarson, H., Hallmayer, J., Hamilton, S.P., Hamshere, M., Hansen, T., Hartmann, A.M., Hauutzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I., et al., O'Dushlaine, C., Rossin, L., Lee, P.H., Duncan, L., Parikshak, N.N., Newhouse, S., Ripke, S., Neale, B.M., Purcell, S., Posthuma, D., Nurnberger, J.I., Lee, S.H., Faraone, S.V., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Mattheisen, M., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G., Doyle, A., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A., Ferrier, I.N., Flickinger, M., Foroud, T.M., Frank, J., Franke, B., Fraser, C., Freedman, R., Freimer, N.B., Freitag, C.M., Friedl, M., Frisen, L., Gallagher, L., Gejman, P.V., Georgieva, L., Gershon, E.S., Giegling, I., Gill, M., Gordon, S., Gordon-Smith, K., Green, E.K., Greenwood, T.A., Grice, D.E., Gross, M., Grozeva, D., Guan, W., Gurling, H., Haan, L. de, Haines, J.L., Hakonarson, H., Hallmayer, J., Hamilton, S.P., Hamshere, M., Hansen, T., Hartmann, A.M., Hauutzinger, M., Heath, A.C., Henders, A.K., Herms, S., Hickie, I., and et al.
Abstract: Contains fulltext : 153763pre.pdf (preprint version ) (Open Access)
Published: 2015

121. Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder

Author: Jacobsen, K.K. (Kaya K.), Nievergelt, C.M. (Caroline M), Zayats, T. (Tetyana), Greenwood, J.P. (John), Anttila, V. (Verneri), Akiskal, H.S. (Hagop S.), Haavik, J. (Jan), Bernt Fasmer, O. (Ole), Kelsoe, J.R. (John), Johansson, S. (Stefan), Oedegaard, K.J. (Ketil J.), Jacobsen, K.K. (Kaya K.), Nievergelt, C.M. (Caroline M), Zayats, T. (Tetyana), Greenwood, J.P. (John), Anttila, V. (Verneri), Akiskal, H.S. (Hagop S.), Haavik, J. (Jan), Bernt Fasmer, O. (Ole), Kelsoe, J.R. (John), Johansson, S. (Stefan), and Oedegaard, K.J. (Ketil J.)
Abstract: Methods We performed a genome-wide association analysis contrasting 460 bipolar migraneurs with 914 bipolar patients without migraine from the Bipolar Genome Study (BiGS).Results We identified one genome-wide significant association between migraine in bipolar disorder patients and rs1160720, an intronic single nucleotide polymorphism (SNP) in the NBEA gene (P=2.97×10-8, OR: 1.82, 95% CI: 1.47-2.25), although this was not replicated in a smaller sample of 289 migraine cases. Limitations Our study is based on self-reported migraine.Background Migraine is a common comorbidity among individuals with bipolar disorder, but the underlying mechanisms for this co-occurrence are poorly understood. The aim of this study was to investigate the genetic background of bipolar patients with and without migraine.Conclusions NBEA encodes neurobeachin, a scaffolding protein primarily expressed in the brain and involved in trafficking of vesicles containing neurotransmitter receptors. This locus has not previously been implicated in migraine per se. We found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder.
Published: 2015
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122. Reduced cross-protection against influenza A(H3N2) subgroup 3C.2a and 3C.3a viruses among Finnish healthcare workers vaccinated with 2013/14 seasonal influenza vaccine

Author: University of Helsinki, Department of Medicine, University of Helsinki, Infektiosairaudet (-2009), University of Helsinki, Infektiosairauksien yksikkö, Haveri, A., Ikonen, N., Julkunen, I., Kantele, A., Anttila, V. J., Ruotsalainen, E., Nohynek, H., Lyytikalnen, O., Savolainen-Kopra, C., University of Helsinki, Department of Medicine, University of Helsinki, Infektiosairaudet (-2009), University of Helsinki, Infektiosairauksien yksikkö, Haveri, A., Ikonen, N., Julkunen, I., Kantele, A., Anttila, V. J., Ruotsalainen, E., Nohynek, H., Lyytikalnen, O., and Savolainen-Kopra, C.
Published: 2015

123. Highlighting clinical needs in Clostridium difficile infection : the views of European healthcare professionals at the front line

Author: Aguado, J. M., Anttila, V. J., Galperine, T., Goldenberg, S. D., Gwynn, S., Jenkins, D., Norén, Torbjörn, Petrosillo, N., Seifert, H., Stallmach, A., Warren, T., Wenisch, C., Aguado, J. M., Anttila, V. J., Galperine, T., Goldenberg, S. D., Gwynn, S., Jenkins, D., Norén, Torbjörn, Petrosillo, N., Seifert, H., Stallmach, A., Warren, T., and Wenisch, C.
Abstract: Background: Clostridium difficile infection (CDI) is the leading cause of infectious nosocomial diarrhoea in Europe. Despite increased focus, its incidence and severity are increasing in many European countries. Aim: We developed a series of consensus statements to identify unmet clinical needs in the recognition and management of CDI. Methods: A consortium of European experts prepared a series of 29 statements representing their collective views on the diagnosis and management of CDI in Europe. The statements were grouped into the following six broad themes: diagnosis; definitions of severity; treatment failure, recurrence and its consequences; infection prevention and control interventions; education and antimicrobial stewardship; and National CDI clinical guidance and policy. These statements were reviewed using questionnaires by 1047 clinicians involved in managing CDI, who indicated their level of agreement with each statement. Findings: Levels of agreement exceeded the 66% threshold for consensus for 27 out of 29 statements (93.1%), indicating strong support. Variance between countries and specialties was analysed and showed strong alignment with the overall consensus scores. Conclusion: Based on the consensus scores of the respondent group, recommendations are suggested for the further development of CDI services in order to reduce transmission and recurrence and to ensure that appropriate diagnosis and treatment strategies are applied across all healthcare settings.
Published: 2015
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124. Current preventive strategies and management of Epstein-Barr virus-related post-transplant lymphoproliferative disease in solid organ transplantation in Europe. Results of the ESGICH Questionnaire-based Cross-sectional Survey

Author: San-Juan, R., Manuel, O., Hirsch, H. H., Fernandez-Ruiz, M., Lopez-Medrano, F., Comoli, P., Caillard, S., Grossi, P., Aguado, J. M., Alamo-Martinez, J. M., Anaya, F., Anttila, V. -J., Arnol, M., Avolio, Alfonso Wolfango, Baccarani, U., Castello, I. B., Boletis, I., Bonofiglio, R., Bressollette, C., Brockmann, J., Pulido, J. C., Catalan, P., Christiansen, C., Cofan, F., Cordero, E., Leiro, M. C., Dantal, J., D'Armini, A., Delgado, J. F., Strologo, L. D., Raimondo, F. D., Dierickx, D., Eis-Hubinger, A., Kremer, S. F., Faggian, G., Farinas, M. C., Folgueira, M. D., Fontana, I., Franco, A., Furian, L., Garzoni, C., Ghirardo, G., Ginevri, F., Grinyo, J., Gupte, G., Hansson, L., Helantera, I., Herrero, J. I., Hobin, D., Hoffmann, D., Jan, L., Jarque, I., Jespersen, B., Kaczmarek, I., Kevin, P., Koneth, I., Kovac, D., Lacaille, F., Lautenschlager, I., Len, O., Llado, L., Loy, M., Marcos Maeso, M. A., Marianne, L. V., Marsh, J., Meylan, P., Minambres, E., Montejo, M., Mueller, N., Munoz, P., Nadalin, S., Kamar, N., Nicolas, B., Olivier, D., Palomo, J., Pascual, M., Peter, J., Pierre, F., Francisca Portero, M., Provot, F., Boluda, E. R., Regalia, E., Reina, G., Reuter, S., Ricart, J., Garcia, M. R., Rollag, H., Russo, F. P., Sabe, N., Salcedo, M., Santambrogio, L., Seeman, T., Serra, N., Sgarabotto, D., Simonek, J., Thierry, Y., Thomsen, M. K., Tihic, N., Torre-Cisneros, J., Travi, G., Tulissi, P., Moal, V., Veroux, M., Santandreu, A. V., Vizzini, G., Zibar, L., Avolio A. W. (ORCID:0000-0003-2491-7625), San-Juan, R., Manuel, O., Hirsch, H. H., Fernandez-Ruiz, M., Lopez-Medrano, F., Comoli, P., Caillard, S., Grossi, P., Aguado, J. M., Alamo-Martinez, J. M., Anaya, F., Anttila, V. -J., Arnol, M., Avolio, Alfonso Wolfango, Baccarani, U., Castello, I. B., Boletis, I., Bonofiglio, R., Bressollette, C., Brockmann, J., Pulido, J. C., Catalan, P., Christiansen, C., Cofan, F., Cordero, E., Leiro, M. C., Dantal, J., D'Armini, A., Delgado, J. F., Strologo, L. D., Raimondo, F. D., Dierickx, D., Eis-Hubinger, A., Kremer, S. F., Faggian, G., Farinas, M. C., Folgueira, M. D., Fontana, I., Franco, A., Furian, L., Garzoni, C., Ghirardo, G., Ginevri, F., Grinyo, J., Gupte, G., Hansson, L., Helantera, I., Herrero, J. I., Hobin, D., Hoffmann, D., Jan, L., Jarque, I., Jespersen, B., Kaczmarek, I., Kevin, P., Koneth, I., Kovac, D., Lacaille, F., Lautenschlager, I., Len, O., Llado, L., Loy, M., Marcos Maeso, M. A., Marianne, L. V., Marsh, J., Meylan, P., Minambres, E., Montejo, M., Mueller, N., Munoz, P., Nadalin, S., Kamar, N., Nicolas, B., Olivier, D., Palomo, J., Pascual, M., Peter, J., Pierre, F., Francisca Portero, M., Provot, F., Boluda, E. R., Regalia, E., Reina, G., Reuter, S., Ricart, J., Garcia, M. R., Rollag, H., Russo, F. P., Sabe, N., Salcedo, M., Santambrogio, L., Seeman, T., Serra, N., Sgarabotto, D., Simonek, J., Thierry, Y., Thomsen, M. K., Tihic, N., Torre-Cisneros, J., Travi, G., Tulissi, P., Moal, V., Veroux, M., Santandreu, A. V., Vizzini, G., Zibar, L., and Avolio A. W. (ORCID:0000-0003-2491-7625)
Abstract: There is limited clinical evidence on the utility of the monitoring of Epstein-Barr virus (EBV) DNAemia in the pre-emptive management of post-transplant lymphoproliferative disease (PTLD) in solid organ transplant (SOT) recipients. We investigated current preventive measures against EBV-related PTLD through a web-based questionnaire sent to 669 SOT programmes in 35 European countries. This study was performed on behalf of the ESGICH study group from the European Society of Clinical Microbiology and Infectious Diseases. A total of 71 SOT programmes from 15 European countries participated in the study. EBV serostatus of the recipient is routinely obtained in 69/71 centres (97%) and 64 (90%) have access to EBV DNAemia assays. EBV monitoring is routinely used in 85.9% of the programmes and 77.4% reported performing pre-emptive treatment for patients with significant EBV DNAemia levels. Pre-emptive treatment for EBV DNAemia included reduction of immunosuppression in 50.9%, switch to mammalian target of rapamycin inhibitors in 30.9%, and use of rituximab in 14.5% of programmes. Imaging by whole-body 18-fluoro-deoxyglucose positron emission tomography (FDG-PET) is used in 60.9% of centres to rule out PTLD and complemented computer tomography is used in 50%. In 10.9% of centres, FDG-PET is included in the first-line diagnostic workup in patients with high-risk EBV DNAemia. Despite the lack of definitive evidence, EBV load measurements are frequently used in Europe to guide diagnostic workup and pre-emptive reduction of immunosuppression. We need prospective and controlled studies to define the impact of EBV monitoring in reducing the risk of PTLD in SOT recipients.
Published: 2015

125. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

Author: Anttila, V., Stefansson, H., Kallela, M., Todt, U., Terwindt, G.M., Calafato, M.S., Nyholt, D.R., Dimas, A.S., Freilinger, T., Muller-Myhsok, B., Artto, V., Inouye, M., Alakurtti, K., Kaunisto, M.A., Hamalainen, E., Vries, B. de, Stam, A.H., Weller, C.M., Heinze, A., Heinze-Kuhn, K., Goebel, I., Borck, G., Gobel, H., Steinberg, S., Wolf, C., Bjornsson, A., Gudmundsson, G., Kirchmann, M., Hauge, A., Werge, T., Schoenen, J., Eriksson, J.G., Hagen, K., Stovner, L., Wichmann, E., Meitinger, T., Alexander, M., Moebus, S., Schreiber, S., Aulchenko, Y.S., Breteler, M.M.B., Uitterlinden, A.G., Hofman, A., Duijn, C.M. van, Tikka-Kleemola, P., Vepsalainen, Lucae, S., Tozzi, F., Muglia, P., Barrett, J., Kaprio, J., Farkkila, M., Peltonen, L., Stefansson, K., Zwart, J.A., Ferrari, M.D., Olesen, J., Daly, M., Wessman, M., Maagdenberg, A.M.J.M. van den, Dichgans, M., Kubisch, C., Dermitzakis, E.T., Frants, R.R., Palotie, A., and Int Headache Genetics Consortium
Subjects: familial hemiplegic migraine lymphoblastoid cell-lines gene-expression episodic ataxia spreading depression confers risk mutation type-2 involvement mechanisms
Abstract: Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or molecular markers for migraine have been convincingly established. We identified the minor allele of rs1835740 on chromosome 8q22.1 to be associated with migraine (P = 5.38 x 10(-9), odds ratio = 1.23, 95% CI 1.150-1.324) in a genome-wide association study of 2,731 migraine cases ascertained from three European headache clinics and 10,747 population-matched controls. The association was replicated in 3,202 cases and 40,062 controls for an overall meta-analysis P value of 1.69 x 10(-11) (odds ratio = 1.18, 95% CI 1.127-1.244). rs1835740 is located between MTDH (astrocyte elevated gene 1, also known as AEG-1) and PGCP (encoding plasma glutamate carboxypeptidase). In an expression quantitative trait study in lymphoblastoid cell lines, transcript levels of the MTDH were found to have a significant correlation to rs1835740 (P = 3.96 x 10(-5), permuted threshold for genome-wide significance 7.7 x 10(-5)). To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine.
Published: 2010

126. D16.3 Proposal of procedures for assessment of preventive and active safety functions

Author: Scholliers, J., Heinig, K., Blosseville, J.M., Netto, M., Anttila, V., Leanderson, S., Engström, J., Aust, M.L., Hendriks, F.M., Ploeg, J., Chen, J., and TNO Defensie en Veiligheid
Subjects: traffic safety, Traffic
Abstract: PReVAL addresses the possible safety impacts of functions developed and demonstrated in the PReVENT integrated project. One of the major aims of the PReVAL project is the development of a harmonized framework for the assessment of preventive safety applications and advanced driver assistance functions. The work described in this deliverable is a major step towards this objective. In deliverable D16.1 [1] the evaluation methodologies used by the PReVENT subprojects and related projects, such as eIMPACT, APROSYS, AIDE and CONVERGE were reviewed. Based on this work, evaluation procedures are proposed for technical performance. Authors ii Subproject Leader ii IP Coordinator ii Revision chart and history log iii Table of contents iv Executive summary 1 1 Introduction 3 2 Methodology 5 2.1 Technical evaluation procedure 5 2.2 Procedure for human factors evaluation 5 3 Framework for the evaluation of safety functions 7 3.1 Situational Control concept 7 3.2 Adapted Vshape design cycle 11 3.3 Relation between technical, human factors and safety potential evaluation 13 4 Proposal for technical evaluation procedure 18 4.1 Assessment framework proposal 18 4.2 Evaluation specification 19 4.2.1 System and functions description 20 4.2.2 Assessment Objectives 24 4.2.3 Expected system impacts 25 4.2.4 Key indicators 25 4.3 Test Definition 29 4.3.1 Synthetic Scenario 29 4.3.2 Tools and methods 31 4.3.3 Data collection and measurement plan 33 4.3.4 Reference case 34 4.4 Execution and reporting 35 4.4.1 Verification 35 4.4.2 Validation 36 4.5 Best practices 36 4.6 Conclusions and Final Remarks 37 5 Human Factors Evaluation procedure 39 5.1 General approach 39 5.1.1 A framework for ADAS human factors evaluation 39 5.2 Procedure 42 5.2.1 Overview 42 5.2.2 Step 1: System and functions description 44 5.2.3 Step 2: Hypothesis generation 45 5.2.4 Step 3: Test scenario selection 50 5.2.5 Step 4: General selection of methods 52 5.2.6 Step 5: Detailed study design 60 5.2.7 Detailed study design of methods 60 5.2.8 Step 6: Reporting and interpretation 64 6 Safety Potential Assessment Procedure 66 6.1 The behavioural effect approach 66 6.2 The procedure of the methodology 68 6.2.1 Description of the functions 68 6.2.2 Literature survey on the effects of the functions 68 6.2.3 Relevant safety impact mechanisms 69 6.2.4 Quantitative assessment of the impacts 70 7 Conclusions and next steps 73 References 75 Annex 1 Keywords 77 Annex 2 Glossary 78 Annex 3 Dummy targets 82
Published: 2007

127. Evaluation framework for preventive safety applications

Author: Scholliers, J., Hendriks, F., Ljung, M., Anttila, V., Netto, M., Engström, J., Heinig, K., and Angelos Amditis
Subjects: evaluation, preventive safety systems, assessment, active safety, Traffic, ADAS
Abstract: The PReVENT Integrated Project European automotive industry activity cofunded by the European Commission contributes to road safety by developing and demonstrating preventive safety applications and technologies. PReVAL is a subproject of PReVENT, and addresses the possible impacts of safety applications developed and demonstrated in PReVENT. The safety assessment is influenced by both the technical performance and the human factors functionality. This paper describes the evaluation framework for preventive safety applications, which is developed in the PReVAL project.
Published: 2007

128. IP D10 Analysis and results of validation procedures for preventive and active ssafety functions

Author: Scholliers, J., Blosseville, J.M., Anttila, V., Sihvola, N., Leanderson, S., Dozza, M., Netto, M., Heinig, K., Hendriks, F.M., Janssen, W.H., Wilmink, I.R., Noort, M. van, Chen, J., Tango, F., Hiller, A., Ljung, M., Engström, J., Koskinen, S., Luoma, J., Gemou, M., Kutzner, R., and TNO Defensie en Veiligheid
Subjects: traffic safety, Traffic
Abstract: PReVAL addresses the possible safety impacts of functions developed and demonstrated in the PReVENT integrated project. One of the major aims of the PReVAL project is the assessment of the work performed in the PReVENT subprojects. This deliverable reviews the evaluation results from the different PReVENT subprojects. The deliverable is both a deliverable for the PReVAL subproject and for the PReVENT IP (IP D10 “Validation results of first phase PReVENT projects”). Authors ii Subproject Leader ii IP Coordinator ii Revision chart and history log iii Table of contents iv Executive summary 1 1 Introduction 3 2 Methodology 5 2.1 Technical Performance Assessment of PReVENT systems 5 2.2 Human factors assessment of PReVENT systems 5 2.3 Safety impact analysis of PReVENT systems 7 2.3.1 Overview of methodology and selected functions 7 2.3.2 Qualitative safety assessment steps 8 3 Analysis of technical performance evaluation results 11 3.1 Introduction 11 3.2 Evaluation results: Function field 1: Tight and short interactions related to collision mitigation and avoidance 12 3.2.1 APALACI results 12 3.2.2 COMPOSE results 15 3.2.3 INTERSAFE results 18 3.3 Evaluation results: Function field 2: Short interactions with other moving vehicles 22 3.3.1 SASPENCE results 22 3.3.2 LATERAL SAFE results 24 3.3.3 SAFELANE results 28 3.4 Evaluation results: Function field 3: More distant interactions 32 3.4.1 MAPS&ADAS results 32 3.4.2 WILLWARN results 35 3.5 Best Practices 39 3.6 Conclusions of evaluation 41 4 Results of the human factor related evaluation of the PReVENT subprojects 44 4.1 INTERSAFE 45 4.1.1 Short Description 45 4.1.2 Common Methods 45 4.1.3 Review of the results 45 4.1.4 Summary of the results (on the overall system) 47 4.2 LATERAL SAFE 48 4.2.1 Short description 48 4.2.2 HMI prestudy 48 4.2.3 Final evaluation 51 4.3 MAPS&ADAS 54 4.3.1 Short Description 54 4.3.2 Review of the results 54 4.4 SAFELANE 58 4.4.1 Short Description 58 4.4.2 Review of the results 58 4.5 SASPENCE 60 4.5.1 Short Description 60 4.5.2 General Methods 60 4.5.3 Results 60 4.5.4 Study 2 – Driving tests 61 4.5.5 Summary of the results 62 4.6 WILLWARN 62 4.6.1 Short overview of functionality 62 4.6.2 Review of the results 63 4.7 Summary 65 5 Qualitative Safety impact assessment of PReVENT functions 67 5.1 APALACI/COMPOSE 67 5.1.1 Literature review 67 5.1.2 Safety impact mechanisms 70 5.1.3 Conclusions 71 5.2 INTERSAFE (left-turn assistance) 71 5.2.1 Literature review 71 5.2.2 Safety impact mechanisms 73 5.2.3 Conclusions 76 5.3 MAPS&ADAS (Hot Spot Warning) 76 5.3.1 Literature review 76 5.3.2 Safety impact mechanisms 76 5.3.3 Conclusions 83 5.4 SAFELANE 83 5.4.1 Literature review 83 5.4.2 Safety impact mechanisms 88 5.4.3 Conclusions 93 5.5 SASPENCE 94 5.5.1 Literature review 94 5.5.2 Safety impact mechanisms 99 5.5.3 Conclusions 103 6 Conclusions 105 References 109 Annex A Keywords 117 Annex B Glossary 118 Annex C Common System Description and evaluation results description template 123 C.1 Function description 123 C.1.1 General - Identification 123 C.1.2 Description 123 C.2 Technical description 124 C.3 Verification 125 C.3.1 General considerations .125 C.3.2 Subsystem 1 .125 C.3.3 Subsystem 2 .125 C.4 Validation .125 C.4.1 Validation methodology 125 C.4.2 Assessment results 125 C.4.3 Conclusion, discussion .125 C.5 HMI Specifications and HF evaluation 126 C.6 Safety Aspects 127 Annex D APALACI .128 D.1 Functional Specifications and Context 128 D.2 Technical Specification 130 D.3 Reference measurement .135 D.4 HMI Specifications and HF evaluation 138 Annex E COMPOSE 139 E.1 Objectives, functionalities, accident scenarios and expected driver behaviour .139 Annex F INTERSAFE 141 F.1.1 Objectives, functionalities and expected driver behaviour 141 F.1.2 System limitations 142 F.1.3 Context 142 F.2 Technical specifications 142 Annex G LATERAL SAFE 144 G.1 Description 144 G.1.1 General information 144 G.1.2 Functional Description 144 G.1.3 Function limitations 144 G.2 Technical specifications 145 Annex H MAPS&ADAS 148 H.1 Function specifications 148 H.1.1 Functional Description 148 H.1.2 System limitations 148 H.1.3 Target accidents 149 H.2 Technical specifications 150 Annex I SAFELANE 151 I.1 Function description 151 I.1.1 General information 151 I.1.2 Functional Description 151 I.1.3 Functional Specifications 153 I.1.4 System limitations 153 I.2 Technical specifications 154 Annex J SASPENCE 157 J.1 Description 157 J.1.1 General information 157 J.1.2 Functional Description 157 J.1.3 Accident scenarios and expected driver behaviour 158 J.1.4 System limitations 160 J.2 Technical Specification 164 Annex K WILLWARN 166 K.1 Description 166 K.1.1 General information 166 K.1.2 Functional Description 166 K.2 Technical specifications 167
Published: 2007

129. The long‐term effects of faecal microbiota transplantation for gastrointestinal symptoms and general health in patients with recurrent <italic>Clostridium difficile</italic> infection.

Author: Jalanka, J., Satokari, R., Hillamaa, A., Mattila, E., Anttila, V.‐J., and Arkkila, P.
Subjects: FECAL microbiota transplantation, CLOSTRIDIOIDES difficile, ANTIBIOTICS, GASTROINTESTINAL diseases, QUALITY of life
Abstract: Summary: Background: Faecal microbiota transplantation (FMT) is an effective treatment for recurrent Clostridium difficile infection. In short‐term the treatment has been shown to be safe, however, there are no large, long‐term follow‐up studies looking into the potential adverse effects. Aim: To analyse the long‐term effect of FMT treatment in patients with recurrent C. difficile infection and to compare the outcome to antibiotic treated patients. Methods: Altogether 84 patients of which 45 received a FMT treatment and 39 served as controls receiving antibiotics for the infection were followed on average for 3.8 years. Their recovery and medical status was evaluated using a retrospective questionnaire, determining their quality of life, gastrointestinal symptoms and new diseases potentially related to the FMT. Results: There was no difference in the incidence of severe diseases (inflammatory bowel disease, cancer, autoimmune disease, allergy, neurological diseases) between the patient groups. In addition, weight gain did not differ between treatment groups. The FMT treated patients reported that their bowel habits improved significantly faster, they had less irregular bowel function and less symptoms of upper GI‐tract when compared to the patients treated with antibiotics. Significantly more patients in FMT‐group reported that their mental health improved after the treatment. The willingness to receive FMT treatment for potential new C. difficile infection was significantly higher in both treatment groups compared to other treatment options. Conclusion: Our study highlights that FMT is a durable, safe and acceptable treatment option for patients with recurrent C. difficile infection also in long term, and it shows potential benefits over antimicrobial treatment. [ABSTRACT FROM AUTHOR]
Published: 2018
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130. Reduced cross-protection against influenza A(H3N2) subgroup 3C.2a and 3C.3a viruses among Finnish healthcare workers vaccinated with 2013/14 seasonal influenza vaccine

Author: Haveri, A, primary, Ikonen, N, additional, Julkunen, I, additional, Kantele, A, additional, Anttila, V J, additional, Ruotsalainen, E, additional, Nohynek, H, additional, Lyytikäinen, O, additional, and Savolainen-Kopra, C, additional
Published: 2015
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131. HMI and Safety-Related Driver Performance

Author: Östlund, J., Nilsson, L., Carsten, O., Merat, N., Jamson, H., Jamson, S., Mouta, S., Carvalhais, J., Santos, J, Anttila, V., Sandberg, H., Luoma, J., Waard, D. de, Brookhuis, K., Johansson, E., Engström, J., Victor, T., Harbluk, J., Janssen, W., Brouwer, R., and Institute for transport studies
Subjects: traffic safety, in-vehicle information systems, human-computer interaction, man-machine interface, Traffic, driver behaviour
Abstract: The aim of HASTE is to develop methodologies and guidelines for the assessment of In-Vehicle Information Systems (IVIS). The intention is to devise an assessment regime that is independent of the design of an IVIS and that is based on an evaluation of driving performance while using the system as compared with driving performance when not using the system (baseline driving). The ambition is to provide an assessment regime which: Is technology-independent; Has safety-related criteria; Is cost effective; Is appropriate for any system design; and Is validated through real-world testing. The objective of the experiments in this Workpackage (WP2) was to investigate the impact of IVIS task load on driving performance and safety. To achieve this, two surrogate IVISs (SIVISs) were created, one representing cognitive load and the other visual load. Using these SIVISs, it was possible to vary secondary task load systematically. Separate assessments of the effects on driving of the different types of task load were carried out, with as clean a distinction as possible between visual and cognitive load. The objective was also to identify the advantages and disadvantages of the different assessment methods (laboratory, simulator, field), and finally to identify which road types and scenarios are the most productive for testing IVIS. Different groups of drivers were used and scenarios varied in accordance with the protocol and procedure for safety assessment of IVIS as outlined in Deliverable 1 (Roskam et al., 2002). A very large set of experiments was conducted. But in one sense this was one very large multi-national unified and integrated experiment with a common goal, a common experimental protocol and common indicators. The effect of IVIS use in three distinct road categories urban, rural, and motorway was investigated. To do this, a total of 14 separate driving simulator experiments were conducted, with each participant experiencing only one type of S-IVIS. All seven driving simulators were used to investigate driving with both S-IVISs on a common rural road. For the most part, each simulator road type had three levels of difficultly with the most difficult being driving when some critical event was triggered (the motorway had only two levels of difficulty: without and with events).
Published: 2004

132. High risk population isolate reveals low frequency variants predisposing to intracranial aneurysms

Author: Kurki, M.I., Gaal, E.I., Kettunen, J., Lappalainen, T., Menelaou, A., Anttila, V., Hof, F.N. van 't, Fraunberg, M. von Und Zu, Helisalmi, S., Hiltunen, M., Lehto, H., Laakso, A., Kivisaari, R., Koivisto, T., Ronkainen, A., Rinne, J., Kiemeney, B., Vermeulen, S., Kaunisto, M.A., Eriksson, J.G., Aromaa, A., Perola, M., Lehtimaki, T., Raitakari, O.T., Salomaa, V., Gunel, M., Dermitzakis, E.T., Ruigrok, Y.M., Rinkel, G.J., Niemela, M., Hernesniemi, J., Ripatti, S., Bakker, P.I. de, Palotie, A., Jaaskelainen, J.E., Kurki, M.I., Gaal, E.I., Kettunen, J., Lappalainen, T., Menelaou, A., Anttila, V., Hof, F.N. van 't, Fraunberg, M. von Und Zu, Helisalmi, S., Hiltunen, M., Lehto, H., Laakso, A., Kivisaari, R., Koivisto, T., Ronkainen, A., Rinne, J., Kiemeney, B., Vermeulen, S., Kaunisto, M.A., Eriksson, J.G., Aromaa, A., Perola, M., Lehtimaki, T., Raitakari, O.T., Salomaa, V., Gunel, M., Dermitzakis, E.T., Ruigrok, Y.M., Rinkel, G.J., Niemela, M., Hernesniemi, J., Ripatti, S., Bakker, P.I. de, Palotie, A., and Jaaskelainen, J.E.
Abstract: Contains fulltext : 138172.pdf (publisher's version ) (Open Access), 3% of the population develops saccular intracranial aneurysms (sIAs), a complex trait, with a sporadic and a familial form. Subarachnoid hemorrhage from sIA (sIA-SAH) is a devastating form of stroke. Certain rare genetic variants are enriched in the Finns, a population isolate with a small founder population and bottleneck events. As the sIA-SAH incidence in Finland is >2x increased, such variants may associate with sIA in the Finnish population. We tested 9.4 million variants for association in 760 Finnish sIA patients (enriched for familial sIA), and in 2,513 matched controls with case-control status and with the number of sIAs. The most promising loci (p<5E-6) were replicated in 858 Finnish sIA patients and 4,048 controls. The frequencies and effect sizes of the replicated variants were compared to a continental European population using 717 Dutch cases and 3,004 controls. We discovered four new high-risk loci with low frequency lead variants. Three were associated with the case-control status: 2q23.3 (MAF 2.1%, OR 1.89, p 1.42x10-9); 5q31.3 (MAF 2.7%, OR 1.66, p 3.17x10-8); 6q24.2 (MAF 2.6%, OR 1.87, p 1.87x10-11) and one with the number of sIAs: 7p22.1 (MAF 3.3%, RR 1.59, p 6.08x-9). Two of the associations (5q31.3, 6q24.2) replicated in the Dutch sample. The 7p22.1 locus was strongly differentiated; the lead variant was more frequent in Finland (4.6%) than in the Netherlands (0.3%). Additionally, we replicated a previously inconclusive locus on 2q33.1 in all samples tested (OR 1.27, p 1.87x10-12). The five loci explain 2.1% of the sIA heritability in Finland, and may relate to, but not explain, the increased incidence of sIA-SAH in Finland. This study illustrates the utility of population isolates, familial enrichment, dense genotype imputation and alternate phenotyping in search for variants associated with complex diseases.
Published: 2014

133. Candidate-gene association study searching for genetic factors involved in migraine chronification

Author: Louter, MA, primary, Fernandez-Morales, J, additional, de Vries, B, additional, Winsvold, B, additional, Anttila, V, additional, Fernandez-Cadenas, I, additional, Vila-Pueyo, M, additional, Sintas, C, additional, van Duijn, CM, additional, Cormand, B, additional, Álvarez-Sabin, J, additional, Montaner, J, additional, Ferrari, MD, additional, van den Maagdenberg, AMJM, additional, Palotie, A, additional, Zwart, JA, additional, Macaya, A, additional, Terwindt, GM, additional, and Pozo-Rosich, P, additional
Published: 2014
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134. The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

Author: Robinson, E B, primary, Kirby, A, additional, Ruparel, K, additional, Yang, J, additional, McGrath, L, additional, Anttila, V, additional, Neale, B M, additional, Merikangas, K, additional, Lehner, T, additional, Sleiman, P M A, additional, Daly, M J, additional, Gur, R, additional, and Hakonarson, H, additional
Published: 2014
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135. Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

Author: Lee, Shermin, Ripke, S., Neale, B.M., Faraone, S.V., Purcell, S.M., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G.J., Doyle, A.E., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A.E., Ferrier, I.N., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., et al., Lee, Shermin, Ripke, S., Neale, B.M., Faraone, S.V., Purcell, S.M., Perlis, R.H., Mowry, B.J., Thapar, A., Goddard, M.E., Witte, J.S., Absher, D., Agartz, I., Akil, H., Amin, F., Andreassen, O.A., Anjorin, A., Anney, R., Anttila, V., Arking, D.E., Asherson, P., Azevedo, M.H., Backlund, L., Badner, J.A., Bailey, A.J., Banaschewski, T., Barchas, J.D., Barnes, M.R., Barrett, T.B., Bass, N., Battaglia, A., Bauer, M., Bayes, M., Bellivier, F., Bergen, S.E., Berrettini, W., Betancur, C., Bettecken, T., Biederman, J., Binder, E.B., Black, D.W., Blackwood, D.H., Bloss, C.S., Boehnke, M., Boomsma, D.I., Breen, G., Breuer, R., Bruggeman, R., Cormican, P., Buccola, N.G., Buitelaar, J.K., Bunney, W.E., Buxbaum, J.D., Byerley, W.F., Byrne, E.M., Caesar, S., Cahn, W., Cantor, R.M., Casas, M., Chakravarti, A., Chambert, K., Choudhury, K., Cichon, S., Cloninger, C.R., Collier, D.A., Cook, E.H., Coon, H., Cormand, B., Corvin, A., Coryell, W.H., Craig, D.W., Craig, I.W., Crosbie, J., Cuccaro, M.L., Curtis, D., Czamara, D., Datta, S., Dawson, G., Day, R., Geus, E.J. de, Degenhardt, F., Djurovic, S., Donohoe, G.J., Doyle, A.E., Duan, J., Dudbridge, F., Duketis, E., Ebstein, R.P., Edenberg, H.J., Elia, J., Ennis, S., Etain, B., Fanous, A., Farmer, A.E., Ferrier, I.N., Flickinger, M., Fombonne, E., Foroud, T., Frank, J., Franke, B., and et al.
Abstract: Item does not contain fulltext, Most psychiatric disorders are moderately to highly heritable. The degree to which genetic variation is unique to individual disorders or shared across disorders is unclear. To examine shared genetic etiology, we use genome-wide genotype data from the Psychiatric Genomics Consortium (PGC) for cases and controls in schizophrenia, bipolar disorder, major depressive disorder, autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD). We apply univariate and bivariate methods for the estimation of genetic variation within and covariation between disorders. SNPs explained 17-29% of the variance in liability. The genetic correlation calculated using common SNPs was high between schizophrenia and bipolar disorder (0.68 +/- 0.04 s.e.), moderate between schizophrenia and major depressive disorder (0.43 +/- 0.06 s.e.), bipolar disorder and major depressive disorder (0.47 +/- 0.06 s.e.), and ADHD and major depressive disorder (0.32 +/- 0.07 s.e.), low between schizophrenia and ASD (0.16 +/- 0.06 s.e.) and non-significant for other pairs of disorders as well as between psychiatric disorders and the negative control of Crohn's disease. This empirical evidence of shared genetic etiology for psychiatric disorders can inform nosology and encourages the investigation of common pathophysiologies for related disorders.
Published: 2013

136. Genome-wide meta-analysis identifies new susceptibility loci for migraine

Author: Anttila, V., Winsvold, B.S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., Malik, R., de Vries, B., Terwindt, G., Medland, S.E., Todt, U., McArdle, W.L., Quaye, L., Koiranen, M., Ikram, M.A., Lehtimäki, T., Stam, A.H., Ligthart, L., Wedenoja, J., Dunham, I., Neale, B. M., Palta, P., Hamalainen, E., Schürks, M., Rose, L.M., Buring, J.E., Ridker, P.M., Steinberg, S., Stefansson, H., Jakobsson, F., Lawlor, D.A., Evans, D.M., Ring, S.M., Färkkilä, M., Artto, V., Kaunisto, M.A., Freilinger, T., Schoenen, J., Frants, R.R., Pelzer, N., Weller, C.M., Zielman, R., Heath, A.C., Madden, P.A.F., Montgomery, G.W., Martin, N.G., Borck, G., Göbel, H., Heinze, A., Heinze-Kuhn, K., Williams, F.M., Hartikainen, A.-L., Pouta, A., van den Ende, J.., Uitterlinden, A.G., Hofman, A., Amin, N., Hottenga, J.J., Vink, J.M., Heikkilä, K., Alexander, M., Muller-Myhsok, B., Schreiber, S, Meitinger, T., Wichmann, H. E., Aromaa, A., Eriksson, J.G., Traynor, B.J., Trabzuni, D., Rossin, E., Lage, K., Jacobs, S.B., Gibbs, J.R., Birney, E., Kaprio, J., Penninx, B.W.J.H., Boomsma, D.I., van Duijn, C.M., Raitakari, O., Jarvelin, M.-R., Zwart, J.A., Cherkas, L., Strachan, D.P., Kubisch, C., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Dichgans, M., Wessman, M., Smith, G.D., Stefansson, K., Daly, M.J., Nyholt, DR, Chasman, D.I., Palotie, A., Anttila, V., Winsvold, B.S., Gormley, P., Kurth, T., Bettella, F., McMahon, G., Kallela, M., Malik, R., de Vries, B., Terwindt, G., Medland, S.E., Todt, U., McArdle, W.L., Quaye, L., Koiranen, M., Ikram, M.A., Lehtimäki, T., Stam, A.H., Ligthart, L., Wedenoja, J., Dunham, I., Neale, B. M., Palta, P., Hamalainen, E., Schürks, M., Rose, L.M., Buring, J.E., Ridker, P.M., Steinberg, S., Stefansson, H., Jakobsson, F., Lawlor, D.A., Evans, D.M., Ring, S.M., Färkkilä, M., Artto, V., Kaunisto, M.A., Freilinger, T., Schoenen, J., Frants, R.R., Pelzer, N., Weller, C.M., Zielman, R., Heath, A.C., Madden, P.A.F., Montgomery, G.W., Martin, N.G., Borck, G., Göbel, H., Heinze, A., Heinze-Kuhn, K., Williams, F.M., Hartikainen, A.-L., Pouta, A., van den Ende, J.., Uitterlinden, A.G., Hofman, A., Amin, N., Hottenga, J.J., Vink, J.M., Heikkilä, K., Alexander, M., Muller-Myhsok, B., Schreiber, S, Meitinger, T., Wichmann, H. E., Aromaa, A., Eriksson, J.G., Traynor, B.J., Trabzuni, D., Rossin, E., Lage, K., Jacobs, S.B., Gibbs, J.R., Birney, E., Kaprio, J., Penninx, B.W.J.H., Boomsma, D.I., van Duijn, C.M., Raitakari, O., Jarvelin, M.-R., Zwart, J.A., Cherkas, L., Strachan, D.P., Kubisch, C., Ferrari, M.D., van den Maagdenberg, A.M.J.M., Dichgans, M., Wessman, M., Smith, G.D., Stefansson, K., Daly, M.J., Nyholt, DR, Chasman, D.I., and Palotie, A.
Abstract: Migraine is the most common brain disorder, affecting approximately 14% of the adult population, but its molecular mechanisms are poorly understood. We report the results of a meta-analysis across 29 genome-wide association studies, including a total of 23,285 individuals with migraine (cases) and 95,425 population-matched controls. We identified 12 loci associated with migraine susceptibility (P < 5 × 10
Published: 2013
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137. Why do singletons conceived after assisted reproduction technology have adverse perinatal outcome?:Systematic review and meta-analysis

Author: Pinborg, A, Wennerholm, U B, Romundstad, L B, Loft, A, Aittomaki, K, Söderström-Anttila, V, Nygren, K G, Hazekamp, J, Bergh, C, Pinborg, A, Wennerholm, U B, Romundstad, L B, Loft, A, Aittomaki, K, Söderström-Anttila, V, Nygren, K G, Hazekamp, J, and Bergh, C
Published: 2013

138. Brain protection in aortic arch surgery

Author: Anttila, V. (Vesa)
Subjects: hypothermic circulatory arrest, retrograde perfusion, lamotrigine
Abstract: Retrograde cerebral perfusion (RCP) techniques have been adopted in aortic arch surgery for clinical use. The clear benefits of RCP are that it reduces embolic injury and prolongs the permissible period of hypothermic circulatory arrest (HCA). At the same time, however, there is a great deal of evidence according to which RCP may be associated with an increased risk of fluid sequestration and cerebral edema. In the current study intermittent RCP was compared with continuous RCP and HCA alone to clarify if periodical RCP decreases fluid sequestration (I). HCA is an effective method of cerebral protection, but is associated with long cardiopulmonary bypass times, and coagulation disturbances. We tested the hypothesis that deep hypothermic RCP could improve cerebral outcome during moderate HCA (II and III). Glutamate excitotoxicity plays an important role in the development of ischemic brain injury. The purpose of the present study was to determine the efficacy of lamotrigine, a Na⁺ channel blocker, to mitigate cerebral injury after HCA (IV). A chronic porcine model was used in the present series of studies. Hemodynamic, electrophysiologic, and metabolic monitoring were performed until four hours after the instigation of rewarming. S-100β was measured up to 20 hours. Daily behavioral assessment performed until death or elective sacrifice on the seventh postoperative day. After continuous RCP the median fluid sequestration volume was 145 (0–250) ml compared with −50 (−100–0) ml after intermittent RCP (p = 0.04). In comparison of 15°C RCP to HCA alone during moderate 25°C hypothermia, 5/6 animals in the RCP group survived seven days compared with 2/6 in the HCA group (p = 0.04). The total histopathologic scores in the RCP(15°C) group were lower than those for the RCP(25°C) group during moderate 25°C hypothermia (p = 0.04). EEG bursts were recovered better in the RCP(15°C) group at 3 hours after the start of rewarming compared to HCA group (p = 0.05). The rate of EEG burst recovery was higher in lamotrigine treated animals compared to placebo treated animals after 4 hours during the rewarming (p = 0.02). Among the animals that survived for 7 days, the median behavioral score was higher in the lamotrigine group (8) compared with controls (7) (p = 0.02). The results indicate that intermittent RCP decreases the rate of fluid sequestration after continuous RCP. The cold RCP at moderate systemic hypothermia seems to provide a better neurological outcome than that with moderate temperature RCP, a finding suggesting that enhanced cranial hypothermia is the major beneficial factor of RCP. The Na+ channel blocker lamotrigine improves neurological outcome after a prolonged period of HCA. In conclusion, two refinements in the RCP concept are to administer it at low temperatures and if longer periods of perfusion are necessary, RCP should be applied intermittently.
Published: 2000

139. Bone marrow-derived stem cell therapy in acute myocardial infarction:an experimental porcine model

Author: Juvonen, T. (Tatu), Lehenkari, P. (Petri), Anttila, V. (Vesa), Mäkelä, J. (Jussi), Juvonen, T. (Tatu), Lehenkari, P. (Petri), Anttila, V. (Vesa), and Mäkelä, J. (Jussi)
Abstract: Stem cell therapy has several mechanisms for repairing damaged myocardium and improving functional capacity of the left ventricle reduced by myocardial infarction. Despite the increase in scientific data, details of these mechanisms are still partly unexplained. The optimal number and type of stem cells as well as timing and route of transplantation are unclear. The purpose of this study was to clarify therapeutic potential of bone marrow-derived stem cells (BM-MNCs) using experimental porcine acute myocardial infarction model. Myocardial infarction was caused by occluding the circumflex coronary artery for 90 minutes. Immediately after reperfusion BM-MNCs were injected directly into the damaged myocardium or by angioplastic catheter into the infarct-related coronary artery. Left ventricular ejection fraction (LVEF) improved 3 weeks after infarction in animals that received BM-MNCs intramyocardially whereas in animals that received intracoronary transplantation or saline LVEF failed to recover. Radionuclide imaging and histological analysis showed intramyocardially transplanted cells remaining in the infarcted myocardium, whereas after intracoronary transplantation a major fraction of cells flushed into the lungs. In histological analysis minor fraction of BM-MNCs showed differentiation towards myocyte form and proliferation. Significantly lower collagen density and higher levels of smooth muscle actin and skeletal muscle actin were detected in the infarcted myocardium after intramyocardial or intracoronary BM-MNC transplantation compared with animals that received saline. Proteomic screening indicated that mitochondrial energy metabolism recovered after BM-MNC transplantation. Additionally, two proteins showed elevated levels after BM-MNC transplantation, which indicates that they are actively involved in the pathological mechanisms. BM-MNCs appear to enhance recovery of the infarcted myocardium by restoring the reduced LVEF after infarction. Intramyocardi, Tiivistelmä Kantasoluterapian on havaittu korjaavan infarktissa vaurioitunutta sydänlihasta toimintakykyisemmäksi usealla mekanismilla sekä parantavan sydänlihaksen pumppaustoimintaa. Huolimatta lisääntyneestä tutkimustiedosta näiden monimutkaisten mekanismien yksityiskohdat ovat edelleen paljolti selvittämättä. Samoin käytettävien kantasolujen tyypin, määrän, siirtotekniikan ja siirron ajoituksen optimointi on vielä epäselvää. Tämän tutkimuksen tavoitteena oli selvittää kokeellista sian infarktimallia käyttäen luuytimen kantasolujen kykyä tehostaa vaurioituneen sydänlihaksen toipumista akuutin infarktin jälkeen. Mallissa aiheutettiin sydäninfarkti sulkemalla vasemman sepelvaltimon kiertävähaara 90 minuutiksi. Välittömästi verenkierron uudelleen avaamisen jälkeen luuytimen soluja ruiskutettiin infarktialueelle joko suoraan sydänlihakseen tai sepelvaltimoon. Kolmen viikon kuluttua infarktista kantasoluja suoraan sydänlihakseen saaneiden eläinten vasemman kammion ejektiofraktio (LVEF) parani tilastollisesti merkitsevästi verrattuna kantasoluja sepelvaltimoon saaneisiin eläimiin ja keittosuolaa saaneisiin eläimiin, joiden LVEF pysyi infarktin jälkeisellä alentuneella tasolla. Isotooppitutkimus ja histologinen analyysi osoittivat, että suoraan sydänlihakseen ruiskutetuista kantasoluista valtaosa säilyy infarktialueella kun taas sepelvaltimoon siirretyt solut pääasiassa ajautuvat keuhkoihin. Histologisessa analyysissa sydänlihakseen ruiskutettujen solujen todettiin vähäisessä määrin erilaistuvan lihassolujen suuntaan ja jakautuvan. Kantasoluja saaneiden eläinten ryhmissä todettiin infarktialueella merkitsevästi alhaisempi kollageenipitoisuus sekä enemmän sileälihassolujen aktiinia ja poikkijuovaisten lihassolujen aktiinia kuin keittosuolaa saaneilla eläimillä. Proteomiikka-analyysin tulokset viittaavat kantasoluterapian saaneilla eläimillä mitokondrioiden energiatalouden tehostumiseen. Lisäksi esille tuli kaksi kantasoluterapian jälkeen aktiivista proteiinia, joilla tode
Published: 2011

140. Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

Author: Anttila, V, Stefansson, H, Kallela, M, Todt, U, Terwindt, GM, Calafato, MS, Nyholt, DR, Dimas, AS, Freilinger, T, Mueller-Myhsok, B, Artto, V, Inouye, M, Alakurtti, K, Kaunisto, MA, Haemaelaeinen, E, de Vries, B, Stam, AH, Weller, CM, Heinze, A, Heinze-Kuhn, K, Goebel, I, Borck, G, Goebel, H, Steinberg, S, Wolf, C, Bjoernsson, A, Gudmundsson, G, Kirchmann, M, Hauge, A, Werge, T, Schoenen, J, Eriksson, JG, Hagen, K, Stovner, L, Wichmann, E, Meitinger, T, Alexander, M, Moebus, S, Schreiber, S, Aulchenko, YS, Breteler, MMB, Uitterlinden, AG, Hofman, A, van Duijn, CM, Tikka-Kleemola, P, Vepsaelaeinen, S, Lucae, S, Tozzi, F, Muglia, P, Barrett, J, Kaprio, J, Faerkkilae, M, Peltonen, L, Stefansson, K, Zwart, J-A, Ferrari, MD, Olesen, J, Daly, M, Wessman, M, van den Maagdenberg, AMJM, Dichgans, M, Kubisch, C, Dermitzakis, ET, Frants, RR, Palotie, A, Anttila, V, Stefansson, H, Kallela, M, Todt, U, Terwindt, GM, Calafato, MS, Nyholt, DR, Dimas, AS, Freilinger, T, Mueller-Myhsok, B, Artto, V, Inouye, M, Alakurtti, K, Kaunisto, MA, Haemaelaeinen, E, de Vries, B, Stam, AH, Weller, CM, Heinze, A, Heinze-Kuhn, K, Goebel, I, Borck, G, Goebel, H, Steinberg, S, Wolf, C, Bjoernsson, A, Gudmundsson, G, Kirchmann, M, Hauge, A, Werge, T, Schoenen, J, Eriksson, JG, Hagen, K, Stovner, L, Wichmann, E, Meitinger, T, Alexander, M, Moebus, S, Schreiber, S, Aulchenko, YS, Breteler, MMB, Uitterlinden, AG, Hofman, A, van Duijn, CM, Tikka-Kleemola, P, Vepsaelaeinen, S, Lucae, S, Tozzi, F, Muglia, P, Barrett, J, Kaprio, J, Faerkkilae, M, Peltonen, L, Stefansson, K, Zwart, J-A, Ferrari, MD, Olesen, J, Daly, M, Wessman, M, van den Maagdenberg, AMJM, Dichgans, M, Kubisch, C, Dermitzakis, ET, Frants, RR, and Palotie, A
Abstract: Migraine is a common episodic neurological disorder, typically presenting with recurrent attacks of severe headache and autonomic dysfunction. Apart from rare monogenic subtypes, no genetic or molecular markers for migraine have been convincingly established. We identified the minor allele of rs1835740 on chromosome 8q22.1 to be associated with migraine (P = 5.38 × 10⁻⁹, odds ratio = 1.23, 95% CI 1.150-1.324) in a genome-wide association study of 2,731 migraine cases ascertained from three European headache clinics and 10,747 population-matched controls. The association was replicated in 3,202 cases and 40,062 controls for an overall meta-analysis P value of 1.69 × 10⁻¹¹ (odds ratio = 1.18, 95% CI 1.127-1.244). rs1835740 is located between MTDH (astrocyte elevated gene 1, also known as AEG-1) and PGCP (encoding plasma glutamate carboxypeptidase). In an expression quantitative trait study in lymphoblastoid cell lines, transcript levels of the MTDH were found to have a significant correlation to rs1835740 (P = 3.96 × 10⁻⁵, permuted threshold for genome-wide significance 7.7 × 10⁻⁵. To our knowledge, our data establish rs1835740 as the first genetic risk factor for migraine.
Published: 2010

141. European lactase persistence genotype shows evidence of association with increase in body mass index

Author: Kettunen, J, Silander, K, Saarela, O, Amin, Najaf, Muller, M (Majon), Timpson, N, Surakka, I, Ripatti, S, Laitinen, J, Hartikainen, AL, Pouta, A, Lahermo, P, Anttila, V, Mannisto, S, Jula, A, Virtamo, J, Salomaa, V, Lehtimaki, T, Raitakari, O, Gieger, C, Wichmann, EH, Duijn, Cornelia, Smith, GD, McCarthy, MI, Jarvelin, MR, Perola, M, Peltonen, L, Kettunen, J, Silander, K, Saarela, O, Amin, Najaf, Muller, M (Majon), Timpson, N, Surakka, I, Ripatti, S, Laitinen, J, Hartikainen, AL, Pouta, A, Lahermo, P, Anttila, V, Mannisto, S, Jula, A, Virtamo, J, Salomaa, V, Lehtimaki, T, Raitakari, O, Gieger, C, Wichmann, EH, Duijn, Cornelia, Smith, GD, McCarthy, MI, Jarvelin, MR, Perola, M, and Peltonen, L
Abstract: The global prevalence of obesity has increased significantly in recent decades, mainly due to excess calorie intake and increasingly sedentary lifestyle. Here, we test the association between obesity measured by body mass index (BMI) and one of the best-known genetic variants showing strong selective pressure: the functional variant in the cis-regulatory element of the lactase gene. We tested this variant since it is presumed to provide nutritional advantage in specific physical and cultural environments. We genetically defined lactase persistence (LP) in 31 720 individuals from eight European population-based studies and one family study by genotyping or imputing the European LP variant (rs4988235). We performed a meta-analysis by pooling the beta-coefficient estimates of the relationship between rs4988235 and BMI from the nine studies and found that the carriers of the allele responsible for LP among Europeans showed higher BMI (P = 7.9 x 10(-5)). Since this locus has been shown to be prone to population stratification, we paid special attention to reveal any population substructure which might be responsible for the association signal. The best evidence of exclusion of stratification came from the Dutch family sample which is robust for stratification. In this study, we highlight issues in model selection in the genome-wide association studies and problems in imputation of these special genomic regions.
Published: 2010

142. Response to ‘Predicting the diagnosis of autism spectrum disorder using gene pathway analysis’

Author: Robinson, E B, primary, Howrigan, D, additional, Yang, J, additional, Ripke, S, additional, Anttila, V, additional, Duncan, L E, additional, Jostins, L, additional, Barrett, J C, additional, Medland, S E, additional, MacArthur, D G, additional, Breen, G, additional, O'Donovan, M C, additional, Wray, N R, additional, Devlin, B, additional, Daly, M J, additional, Visscher, P M, additional, Sullivan, P F, additional, and Neale, B M, additional
Published: 2013
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143. Extraintestinal Clostridium difficile Infections

Author: Mattila, E., primary, Arkkila, P., additional, Mattila, P. S., additional, Tarkka, E., additional, Tissari, P., additional, and Anttila, V.-J., additional
Published: 2013
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144. Psychology and counselling

Author: Van Parys, H., primary, Wyverkens, E., additional, Provoost, V., additional, Ravelingien, A., additional, Raes, I., additional, Somers, S., additional, Stuyver, I., additional, De Sutter, P., additional, Pennings, G., additional, Buysse, A., additional, Anttila, V. S., additional, Salevaara, M., additional, Suikkari, A. M., additional, Listijono, D. R., additional, Mooney, S., additional, Chapman, M. G., additional, Res Muravec, U., additional, Pusica, S., additional, Lomsek, M., additional, Cizek Sajko, M., additional, Parames, S., additional, Semiao-Francisco, L., additional, Sato, H., additional, Ueno, J., additional, van den Wijngaard, L., additional, Mochtar, M. H., additional, van Dam, H., additional, van der Veen, F., additional, van Wely, M., additional, Derks-Smeets, I. A. P., additional, Habets, J. J. G., additional, Tibben, A., additional, Tjan-Heijnen, V. C. G., additional, Meijer-Hoogeveen, M., additional, Geraedts, J. P. M., additional, van Golde, R., additional, Gomez-Garcia, E., additional, de Die-Smulders, C. E. M., additional, van Osch, L. A. D. M., additional, Kets, C. M., additional, Gullo, S., additional, Donarelli, Z., additional, Coco, G. L., additional, Marino, A., additional, Volpes, A., additional, Sammartano, F., additional, Allegra, A., additional, Nekkebroeck, J., additional, Tournaye, H., additional, Stoop, D., additional, Lo Coco, G., additional, Coffaro, F., additional, Diaz, D. G., additional, Gonzalez, M. A., additional, Tirado, M., additional, Chamorro, S., additional, Dolz, P., additional, Gil, M. A., additional, Ballesteros, A., additional, Velilla, E., additional, Castello, C., additional, Moina, N., additional, Lopez-Teijon, M., additional, Chan, C. H. Y., additional, Chan, C. L. W., additional, Leong, M. K. H., additional, Cheung, I. K. M., additional, Chan, T. H. Y., additional, Hui, B. N. L., additional, van Dongen, A. J. C. M., additional, Huppelschoten, A. G., additional, Kremer, J. A. M., additional, Nelen, W. L. D. M., additional, Verhaak, C. M., additional, Sun, H. G., additional, Lee, K. H., additional, Park, I. H., additional, Kim, S. G., additional, Lee, J. H., additional, Kim, Y. Y., additional, Kim, H. J., additional, Cho, J. D., additional, Yoo, Y. J., additional, Frokjaer, V., additional, Pinborg, A., additional, Larsen, E. C., additional, Heede, M., additional, Stenbaek, D. S., additional, Henningsson, S., additional, Nielsen, A. P., additional, Svarer, C., additional, Holst, K. K., additional, Knudsen, G. M., additional, Emery, M., additional, DeJonckheere, L., additional, Rothen, S., additional, Wisard, M., additional, Germond, M., additional, Toftager, M., additional, Hjordt, L. V., additional, Jensen, P. S., additional, Holst, K., additional, Holland, T., additional, Bryndorf, T., additional, Bogstad, J., additional, Hornnes, P., additional, Frokjaer, V. G., additional, Dornelles, L. M. N., additional, MacCallum, F., additional, Lopes, R. C. S., additional, Piccinini, C. A., additional, Passos, E. P., additional, Bruegge, C., additional, Thorn, P., additional, Daniels, K., additional, Imrie, S., additional, Jadva, V., additional, Golombok, S., additional, Arens, Y., additional, De Krom, G., additional, Van Golde, R. J. T., additional, Coonen, E., additional, Van Ravenswaaij-Arts, C. M. A., additional, Evers, J. L. H., additional, De Die-Smulders, C. E. M., additional, Ghazeeri, G., additional, Awwad, J., additional, Fakih, A., additional, Abbas, H., additional, Harajly, S., additional, Tawidian, L., additional, Maalouf, F., additional, Ajdukovic, D., additional, Pibernik-Okanovic, M., additional, Alebic, M. S., additional, Baccino, G., additional, Calatayud, C., additional, Ricciarelli, E., additional, de Miguel, E. R. H., additional, Wierckx, K., additional, Verstraelen, H., additional, Van Glabeke, L., additional, Van den Abbeel, E., additional, Gerris, J., additional, T'Sjoen, G., additional, Monica, B., additional, Calonge, R. N., additional, Peregrin, P. C., additional, Cserepes, R., additional, Kollar, J., additional, Wischmann, T., additional, Bugan, A., additional, Pinkard, C., additional, Harrison, C., additional, Bunting, L., additional, Boivin, J., additional, Fulford, B., additional, Theusink-Kirchhoff, N., additional, van Ravenswaaij-Arts, C. M. A., additional, Bakker, M. K., additional, Volks, C., additional, Papaligoura, Z., additional, Papadatou, D., additional, Bellali, T. H., additional, Jarvholm, S., additional, Broberg, M., additional, Thurin-Kjellberg, A., additional, Weitzman, G., additional, Van Der Putten-Landau, T. M., additional, Chudnoff, S., additional, Panagopoulou, E., additional, Tarlatzis, B., additional, Tamhankar, V., additional, Jones, G. L., additional, Magill, P., additional, Skull, J. D., additional, Ledger, W., additional, Hvidman, H. W., additional, Specht, I. O., additional, Schmidt, K. T., additional, Andersen, A. N., additional, Freeman, T., additional, Zadeh, S., additional, Smith, V., additional, Whitaker, L. H. R., additional, Reid, J., additional, Wilson, J., additional, Critchley, H. O. D., additional, Horne, A. W., additional, Peterson, B., additional, Pirritano, M., additional, Schmidt, L., additional, Volgsten, H., additional, Van Parys, H., additional, Hudson, N., additional, Culley, L., additional, Law, C., additional, Denny, E., additional, Mitchell, H., additional, Baumgarten, M., additional, Raine-Fenning, N., additional, Blake, L., additional, and Kim, K. H., additional
Published: 2013
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145. Session 60: Perinatal outcome after ART

Author: Stora, C., primary, Devouche, E., additional, Delaroche, L., additional, Patrat, C., additional, Matheron, S., additional, Damond, F., additional, Yazbeck, C., additional, Longuet, P., additional, Llabador, M. A., additional, Luton, D., additional, Epelboin, S., additional, Lemmen, J., additional, Rasmussen, S., additional, Ziebe, S., additional, El Khattabi, L., additional, Hafhouf, E., additional, Royere, D., additional, Pouly, J. L., additional, De Mouzon, J., additional, Levy, R., additional, Hagman, A., additional, Loft, A., additional, Wennerholm, U. B., additional, Pinborg, A., additional, Bergh, C., additional, Aittomaki, K., additional, Nygren, K. G., additional, Romundstad, L. B., additional, Hazekamp, J., additional, Soderstrom-Anttila, V., additional, Mukaida, T., additional, Goto, T., additional, Tajima, T., additional, Oka, C., additional, Takahashi, K., additional, Carrasco, B., additional, Boada, M., additional, Rodriguez, I., additional, Coroleu, B., additional, Barri, P. N., additional, Veiga, A., additional, Henningsen, A. K. A., additional, Skjaerven, R., additional, Forman, J., additional, Gissler, M., additional, and Tiitinen, A., additional
Published: 2013
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146. Probing the Brain of Comorbidity

Author: Palotie, A., primary, Kallela, M., additional, and Anttila, V., additional
Published: 2013
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147. Obstetric and neonatal outcome after oocyte donation in 106 women with Turner syndrome: a Nordic cohort study

Author: Hagman, A., primary, Loft, A., additional, Wennerholm, U.-B., additional, Pinborg, A., additional, Bergh, C., additional, Aittomaki, K., additional, Nygren, K.-G., additional, Bente Romundstad, L., additional, Hazekamp, J., additional, and Soderstrom-Anttila, V., additional
Published: 2013
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148. Genetics and assisted reproduction technology

Author: Aittomaki, K., Bergh, C., Hazekamp, J., Nygren, K.-G., Selbing, Anders, Soderstrom-Anttila, V., Wennerholm, U.-B., Aittomaki, K., Bergh, C., Hazekamp, J., Nygren, K.-G., Selbing, Anders, Soderstrom-Anttila, V., and Wennerholm, U.-B.
Abstract: In the past 20 years, a significant improvement has been shown in the treatment for infertility in both women and men through the development of in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). Only donated sperm could be previously used for treatment, now oocytes can also be donated. Furthermore, the combination of IVF and ICSI with advanced genetic methods has made preimplantation genetic diagnosis possible for many genetic conditions. These methods enable genetic testing of the early human embryo by using only a single cell, one blastomere biopsied from the embryo, as the sample from which the diagnosis of many chromosome rearrangements and other inherited diseases can be made. It has also been established that a considerable proportion of infertility is caused by genetic defects, which have several implications for infertility treatment. The purpose of this review is to give a concise introduction on how genetics is involved in assisted reproduction technology to specialists who may not be working in this particular field of gynecology, but who would need some knowledge of this for proper care of their patients. © Acta Obstet Gynecol Scand (2005).
Published: 2005
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149. Does long in vitro culture promote large for gestational age babies?

Author: Makinen, S., primary, Soderstrom-Anttila, V., additional, Vainio, J., additional, Suikkari, A.- M., additional, and Tuuri, T., additional
Published: 2012
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150. Elective single-embryo transfer in women aged 40-44 years

Author: Niinimaki, M., primary, Suikkari, A.- M., additional, Makinen, S., additional, Soderstrom-Anttila, V., additional, and Martikainen, H., additional
Published: 2012
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