Search

Your search keyword '"Maria Gonik"' showing total 2 results
Start Over Author "Maria Gonik"
2 results on '"Maria Gonik"'

1. Common coding variant in SERPINA1 increases the risk for large artery stroke

Author

Martina Müller-Nurasyid, Hugh S. Markus, Daniel Deredge, Peter Lichtner, Dieter E. Jenne, Patrick L. Wintrode, Klaus Berger, Rainer Malik, Cathie Sudlow, Gerard Pasterkamp, Martin Dichgans, Danish Saleheen, Evgeniia V. Edeleva, Therese Dau, Jens Minnerup, Sander W. van der Laan, Maria Gonik, Lisa F. Lincz, Annette I. Burgess, Dieter Braun, Jessica Götzfried, Melanie Waldenberger, John Attia, Christopher Levi, Peter M. Rothwell, Jennifer Kriebel, Kristiina Rannikmäe, Anirudh Sivakumar, Nathalie Beaufort, Susana Seixas, Steve Bevan, and Elizabeth G. Holliday

Subjects
0301 basic medicine, Nonsynonymous substitution, medicine.medical_specialty, Proteases, large artery stroke, Serpin, Biology, 03 medical and health sciences, Internal medicine, medicine, ischemic stroke, Journal Article, genetics, antitrypsin, C440 Molecular Genetics, Reactive center, Genetic association, Genetics, Antitrypsin, Ischemic Stroke, Large Artery Stroke, Variation, Multidisciplinary, Elastase, HDAC9, C420 Human Genetics, C431 Medical Genetics, 030104 developmental biology, Endocrinology, C400 Genetics, variation, Lipoprotein
Abstract

Large artery atherosclerotic stroke (LAS) shows substantial heritability not explained by previous genome-wide association studies. Here, we explore the role of coding variation in LAS by analyzing variants on the HumanExome BeadChip in a total of 3,127 cases and 9,778 controls from Europe, Australia, and South Asia. We report on a nonsynonymous single-nucleotide variant in serpin family A member 1 (SERPINA1) encoding alpha-1 antitrypsin [AAT; p.V213A; P = 5.99E-9, odds ratio (OR) = 1.22] and confirm histone deacetylase 9 (HDAC9) as a major risk gene for LAS with an association in the 3'-UTR (rs2023938; P = 7.76E-7, OR = 1.28). Using quantitative microscale thermophoresis, we show that M1 (A213) exhibits an almost twofold lower dissociation constant with its primary target human neutrophil elastase (NE) in lipoprotein-containing plasma, but not in lipid-free plasma. Hydrogen/deuterium exchange combined with mass spectrometry further revealed a significant difference in the global flexibility of the two variants. The observed stronger interaction with lipoproteins in plasma and reduced global flexibility of the Val-213 variant most likely improve its local availability and reduce the extent of proteolytic inactivation by other proteases in atherosclerotic plaques. Our results indicate that the interplay between AAT, NE, and lipoprotein particles is modulated by the gate region around position 213 in AAT, far away from the unaltered reactive center loop (357-360). Collectively, our findings point to a functionally relevant balance between lipoproteins, proteases, and AAT in atherosclerosis.

Published
2017
Full Text
View/download PDF

2. Redefining Cut-Points for High Symptom Burden of the Global Initiative for Chronic Obstructive Lung Disease Classification in 18,577 Patients With Chronic Obstructive Pulmonary Disease

Author

Masanori Yoshikawa, Daisy J.A. Janssen, Selina Dürr, Rudolf Joerres, Julia Billington, Nicholas Locantore, Florin Mihaltan, Sally Singh, Dimitar Sajkov, Thys van der Molen, Borja G. Cosío, Guilherme F. da Silva, Sarah Houben-Wilke, Ian Norman, Baykal Tulek, Jose M. Marin, David Miedinger, Samantha Coster, Janwillem W. H. Kocks, Sang Do Lee, Karel Hejduk, Juan P. de Torres, Maria Gonik, Mark Small, Samantha S.C. Kon, Nobuyuki Horita, Katherine A. Webb, Naseh Sigari, Ioanna Tsiligianni, Natya Raghavan, Yoshitaka Ogata, William D.-C. Man, Afroditi K. Boutou, Cristina Martínez, Marc Miravitlles, Lowie E.G.W. Vanfleteren, Miriam T.J. Groenen, Barbora Novotna, Isabel Mir, Miguel Guimaraes, Alvar Agusti, Nart Bedin Atalay, Dionne E. Smid, Trevor Murrells, Stefanie Brighenti-Zogg, Henrik Watz, Seigo Minami, José Luis López-Campos, Frits M.E. Franssen, Nicholas S Hopkinson, Pilar de Lucas-Ramos, Emiel F.M. Wouters, James Piercy, Melissa Jehn, Emma Chaplin, Vladimir Koblizek, Ciro Casanova, Nikolaos Tzanakis, Rebecca Tanner, Hiroshi Kimura, Lana Maricic, Nienke Nakken, David Price, Alberto Fernández-Villar, Denis E. O'Donnell, Annika Karch, Martijn A. Spruit, Yu-Il Kim, Joan B. Soriano, Ines Ladeira, Yu Nishijima, Namhee Kwon, Victoria Higgins, Laura Mendoza, Eanes Delgado Barros Pereira, Julia L. Kelly, Thomas Ringbaek, Guogang G. Xie, Chaicharn Pothirat, James W. Dodd, Joerg D. Leuppi, RS: NUTRIM - R3 - Respiratory & Age-related Health, Pulmonologie, Afdeling Onderwijs FHML, RS: NUTRIM - R3 - Chronic inflammatory disease and wasting, Promovendi NTM, MUMC+: MA Longziekten (3), [Smid, Dionne E.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Franssen, Frits M. E.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Groenen, Miriam T. J.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Houben-Wilke, Sarah] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Janssen, Daisy J. A.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Nakken, Nienke] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Vanfleteren, Lowie E. G. W.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Wouters, Emiel F. M.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Spruit, Martijn A.] CIRO, Dept Res & Educ, Hornerheide 1, NL-6085 NM Horn, Netherlands, [Franssen, Frits M. E.] Maastricht Univ, Med Ctr, Dept Resp Med, Maastricht, Netherlands, [Vanfleteren, Lowie E. G. W.] Maastricht Univ, Med Ctr, Dept Resp Med, Maastricht, Netherlands, [Wouters, Emiel F. M.] Maastricht Univ, Med Ctr, Dept Resp Med, Maastricht, Netherlands, [Gonik, Maria] Biomax Informat AG, Planegg, Germany, [Miravitlles, Marc] Hosp Univ Hebron, CIBER Enfermedades Resp CIBERES, Pneumol Dept Hosp, Barcelona, Spain, [Casanova, Ciro] Hosp Univ NS Candelaria, Pulmonaty Dept, Santa Cruz de Tenerife, Spain, [Casanova, Ciro] Hosp Univ NS Candelaria, Res Unit, Santa Cruz de Tenerife, Spain, [Cosio, Borja G.] Hosp Son Espases IdISPa CIBERES, Dept Resp Med, Islas Baleares, Spain, [de Lucas-Ramos, Pilar] Hosp Gen Univ Gregorio Maranon, Pulm Dept, Madrid, Spain, [Marin, Jose M.] Hosp Univ Miguel Servet, IISAragon, CIBER Enfermedades Resp, Zaragoza, Spain, [Martinez, Cristina] Hosp Univ Cent Asturias, Inst Nacl Silicosis, Pneumol Serv, Oviedo, Spain, [Mir, Isabel] Hosp Gen Univ Gregorio Maranon, Pulm Dept, Madrid, Spain, [Soriano, Joan B.] Univ Autonoma Madrid, Hosp Univ Princesa, Inst Invest, IISP, Madrid, Spain, [de Torres, Juan P.] Clin Univ Navarra, Pulm Dept, Pamplona, Spain, [Agusti, Alvar] Univ Barcelona, Hosp Clin, Resp Inst, Barcelona, Spain, [Agusti, Alvar] CIBERES, Madrid, Spain, [Atalay, Nart B.] TOBB Univ Econ & Technol, Dept Psychol, Ankara, Turkey, [Billington, Julia] Surbiton Hlth Ctr, Cent Surg, Surrey, England, [Boutou, Afroditi K.] G Gennimats Gen Hosp, Intens Care Unit, Thessaloniki, Greece, [Boutou, Afroditi K.] Aristotle Univ Thessaloniki, Resp Failure Unit, Thessaloniki, Greece, [Brighenti-Zogg, Stefanie] Univ Clin Med, Cantonal Hosp Baselland, Liestal, Switzerland, [Durr, Selina] Univ Clin Med, Cantonal Hosp Baselland, Liestal, Switzerland, [Leuppi, Joerg D.] Univ Clin Med, Cantonal Hosp Baselland, Liestal, Switzerland, [Miedinger, David] Univ Clin Med, Cantonal Hosp Baselland, Liestal, Switzerland, [Chaplin, Emma] Univ Hosp Leicester NHS Trust, NIHR Leicester Resp Biomed Res Unit, Ctr Exercise & Rehabil Sci, Leicester, Leics, England, [Singh, Sally] Univ Hosp Leicester NHS Trust, NIHR Leicester Resp Biomed Res Unit, Ctr Exercise & Rehabil Sci, Leicester, Leics, England, [Coster, Samantha] Kings Coll London, Florence Nightingale Fac Nursing & Midwifery, London, England, [Murrells, Trevor J.] Kings Coll London, Florence Nightingale Fac Nursing & Midwifery, London, England, [Norman, Ian J.] Kings Coll London, Florence Nightingale Fac Nursing & Midwifery, London, England, [Dodd, James W.] Univ Bristol, Southmead Hosp Bristol, North Bristol Lung Ctr, Acad Resp Unit, Bristol, Avon, England, [Fernandez-Villar, Alberto] Complexo Hosp Vigo, Inst Invest Biomed Vigo, Serv Neumol, Pontevedra, Spain, [Guimaraes, Miguel] Ctr Hosp Vila Nova Gaia Espinho, Pulmonol Dept, Vila Nova De Gaia, Portugal, [Ladeira, Ines] Ctr Hosp Vila Nova Gaia Espinho, Pulmonol Dept, Vila Nova De Gaia, Portugal, [Hejduk, Karel] Masaryk Univ, Fac Med, Inst Biostat & Analyses, Brno, Czech Republic, [Higgins, Victoria] Adelphi Real World, Bollington, England, [Piercy, James] Adelphi Real World, Bollington, England, [Small, Mark] Adelphi Real World, Bollington, England, [Hopkinson, Nicholas S.] Imperial Coll London, Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England, [Tanner, Rebecca J.] Imperial Coll London, Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England, [Horita, Nobuyuki] Yokohama City Univ, Grad Sch Med, Dept Pulmonol, Yokohama, Kanagawa, Japan, [Jehn, Melissa] Charite Univ Med Berlin, Arbeitsbereich Ambulante Pneumol, Berlin, Germany, [Joerres, Rudolf] Inst & Output Clin Occupat & Environm Med, Munich, Germany, [Karch, Annika] Hannover Med Sch, Inst Biostat, Hannover, Germany, [Kelly, Julia L.] Imperial Coll London, NIHR Resp Dis Biomed Res Unit Royal Brompton, Natl Heart & Lung Inst, Acad Unit Sleep & Ventilat, London, England, [Kelly, Julia L.] Harefield NHS Fdn Trust & Imperial Coll, London, England, [Kim, Yu-Il] Chonnam Natl Univ Hosp, Dept Internal Med, Div Pulmonol, Donggu, Gwangju, South Korea, [Kimura, Hiroshi] Nara Med Univ, Dept Internal Med 2, Nara, Japan, [Yoshikawa, Masanori] Nara Med Univ, Dept Internal Med 2, Nara, Japan, [Koblizek, Vladimir] Charles Univ Prague, Fac Med Hradec Kralove, Dept Pneumol, Hradec Kralove, Czech Republic, [Novotna, Barbora] Charles Univ Prague, Fac Med Hradec Kralove, Dept Pneumol, Hradec Kralove, Czech Republic, [Koblizek, Vladimir] Univ Hosp Hradec Kralove, Hradec Kralove, Czech Republic, [Novotna, Barbora] Univ Hosp Hradec Kralove, Hradec Kralove, Czech Republic, [Kocks, Janwillem H.] Univ Groningen, Univ Med Ctr Groningen, Groningen Res Inst Asthma, Dept Primary Care, Groningen, Netherlands, [van der Molen, Thys] Univ Groningen, Univ Med Ctr Groningen, Groningen Res Inst Asthma, Dept Primary Care, Groningen, Netherlands, [Tsiligianni, Ioanna G.] Univ Groningen, Univ Med Ctr Groningen, Groningen Res Inst Asthma, Dept Primary Care, Groningen, Netherlands, [Kocks, Janwillem H.] Univ Groningen, Univ Med Ctr Groningen, GRIAC, COPD, Groningen, Netherlands, [van der Molen, Thys] Univ Groningen, Univ Med Ctr Groningen, GRIAC, COPD, Groningen, Netherlands, [Tsiligianni, Ioanna G.] Univ Groningen, Univ Med Ctr Groningen, GRIAC, COPD, Groningen, Netherlands, [Kon, Samantha S. C.] Hillingdon Hosp NHS Fdn Trust, Uxbridge, Middx, England, [Kon, Samantha S. C.] Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England, [Man, William D-C] Royal Brompton & Harefield NHS Fdn Trust, NIHR Resp Biomed Res Unit, London, England, [Kon, Samantha S. C.] Imperial Coll, London, England, [Man, William D-C] Imperial Coll, London, England, [Kwon, Namhee] GlaxoSmithICline GSK, Resp Franchise Med, London, England, [Lee, Sang-Do] Univ Ulsan, Coll Med, Clin Res Ctr Chron Obstruct Airway Dis, Asan Med Ctr,Dept Pulm & Critical Care Med, Seoul, South Korea, [Locantore, Nicholas] GlaxoSmithICline, King Of Prussia, PA USA, [Lopez-Campos, Jose L.] Univ Seville, Hosp Univ Virgen Rocio, Inst Biomed Sevilla, Unidad MedQuirarg Enfermedades Resp, Seville, Spain, [Lopez-Campos, Jose L.] Inst Salud Carlos III, CIBERES, CIBER Enfermedades Resp, Madrid, Spain, [Maricic, Lana] Univ JJ Strossmayer Osijek, Fac Med, Dept Internal Med, Univ Hosp Osijek, Osijek, Croatia, [Mendoza, Laura] Hosp Clin Univ Chile, Independencia, Region Metropol, Chile, [Mihaltan, Florin] Inst Pneumol Marius Nasta, Bucharest, Romania, [Minami, Seigo] Osaka Police Hosp, Dept Resp Med, Osaka, Japan, [Nishijima, Yu] Osaka Police Hosp, Dept Resp Med, Osaka, Japan, [Ogata, Yoshitaka] Osaka Police Hosp, Dept Resp Med, Osaka, Japan, [Nishijima, Yu] Osaka Univ, Grad Sch Med, Dept Resp Med Allergy & Rheumat Dis, Suita, Osaka, Japan, [O'Donnell, Denis E.] Queens Univ & Kingston Gen Hosp, Dept Med, Kingston, ON, Canada, [Webb, Katherine A.] Queens Univ & Kingston Gen Hosp, Dept Med, Kingston, ON, Canada, [Pereira, Eanes D.] Fed Univ Ceara Brazil, Fortaleza, Ceara, Brazil, [Price, David] Observat & Pragmat Res Inst, Singapore, Singapore, [Price, David] Univ Aberdeen, Aberdeen, Scotland, [Pothirat, Chaicharn] Chiang Mai Univ, Fac Med, Dept Internal Med, Div Pulm Crit Care & Allergy, Chiang Mai, Thailand, [Raghavan, Natya] McMaster Univ, Dept Med, Hamilton, ON, Canada, [Ringbaek, Thomas] Univ Copenhagen, Hvidovre Hosp, Dept Resp Med, Copenhagen, Denmark, [Sajkov, Dimitar] Flinders Med Ctr, Australian Resp & Sleep Med Inst, Adelaide, SA, Australia, [Sigari, Naseh] Kurdistan Univ Med Sci, Med Fac, Internal Med Dept, Sanandaj, Iran, [da Silva, Guilherme F.] Univ Fortaleza, UNIFOR, Fortaleza, Ceara, Brazil, [Tsiligianni, Ioanna G.] Agia Barbara Hlth Care Ctr, Iraklion, Greece, [Tulek, Baykal] Selcuk Univ, Fac Med, Dept Chest Dis, Konya, Turkey, [Tulek, Baykal] Univ Crete, Med Sch, Univ Hosp Herakl, Dept Thorac Med, Iraklion, Greece, [Watz, Henrik] German Ctr Lung Res, Pulm Res Inst, Lung Clin Grosshansdorf, Grosshansdorf, Germany, [Xie, Guogang G.] Shanghai Jiao Tong Univ, Shanghai Gen Hosp, Dept Resp Med, Shanghai, Peoples R China, [Spruit, Martijn A.] Hasselt Univ, Fac Med & Life Sci, Biomed Res Inst, REVAL,Rehabil Res Ctr,BIOMED, Diepenbeek, Belgium, [Spruit, Martijn A.] Maastricht Univ, Med Ctr, NUTRIM Sch Nutr & Translat Res Metab, Dept Resp Med, Maastricht, Netherlands, MRC, National Institute for Health Research, Medical Research Council, Department of Health, Medical Research Council (MRC), EU/IMI Joint Undertaking, TOBB ETU, Faculty of Science and Literature, Department of Psychology, TOBB ETÜ, Fen Edebiyat Fakültesi, Psikoloji Bölümü, Atalay, Nart Bedin, and Groningen Research Institute for Asthma and COPD (GRIAC)

Subjects
ASSESSMENT TEST SCORE, Male, clinical significance, health status, HISTORY ASSESSMENT, Global Health, Severity of Illness Index, Pulmonary Disease, Chronic Obstructive, 0302 clinical medicine, Assessment test score, Quality of life, CLINICAL CHARACTERISTICS, QUALITY-OF-LIFE, Sickness Impact Profile, 030212 general & internal medicine, Prospective cohort study, Copd assessment test, General Nursing, POPULATION, COPD, education.field_of_study, HEALTH-STATUS, COPD ASSESSMENT TEST, Evidence-Based Medicine, medicine.diagnostic_test, Health Policy, Age Factors, Cat, CAT, General Medicine, Middle Aged, Obstructive lung disease, Health-status, 3. Good health, 1117 Public Health And Health Services, Practice Guidelines as Topic, Disease Progression, Female, Symptom Assessment, Research-council scale, Spirometry, medicine.medical_specialty, Population, Risk Assessment, 03 medical and health sciences, Sex Factors, Internal medicine, Severity of illness, medicine, Humans, GOLD, education, Aged, Receiver operating characteristic, Clinical characteristics, business.industry, 1103 Clinical Sciences, medicine.disease, RESEARCH-COUNCIL SCALE, History assessment, PHYSICAL-ACTIVITY, 030228 respiratory system, Geriatrics, Physical therapy, Physical-activity, Quality-of-life, Geriatrics and Gerontology, business
Abstract

Background: Patients with chronic obstructive pulmonary disease (COPD) can be classified into groups A/C or B/D based on symptom intensity. Different threshold values for symptom questionnaires can result in misclassification and, in turn, different treatment recommendations. The primary aim was to find the best fitting cut-points for Global initiative for chronic Obstructive Lung Disease (GOLD) symptom measures, with an modified Medical Research Council dyspnea grade of 2 or higher as point of reference.Methods: After a computerized search, data from 41 cohorts and whose authors agreed to provide data were pooled. COPD studies were eligible for analyses if they included, at least age, sex, post-bronchodilator spirometry, modified Medical Research Council, and COPD Assessment Test (CAT) total scores.Main outcomes: Receiver operating characteristic curves and the Youden index were used to determine the best calibration threshold for CAT, COPD Clinical Questionnaire, and St. Georges Respiratory Questionnaire total scores. Following, GOLD A/B/C/D frequencies were calculated based on current cut-points and the newly derived cut-points.Findings: A total of 18,577 patients with COPD [72.0% male; mean age: 66.3 years (standard deviation 9.6)] were analyzed. Most patients had a moderate or severe degree of airflow limitation (GOLD spirometric grade 1, 10.9%; grade 2, 46.6%; grade 3, 32.4%; and grade 4, 10.3%). The best calibration threshold for CAT total score was 18 points, for COPD Clinical Questionnaire total score 1.9 points, and for St. Georges Respiratory Questionnaire total score 46.0 points.Conclusions: The application of these new cut-points would reclassify about one-third of the patients with COPD and, thus, would impact on individual disease management. Further validation in prospective studies of these new values are needed. (C) 2017 AMDA - The Society for Post-Acute and Long-Term Care Medicine.

Published
2017

Catalog

Books, media, physical & digital resources
See catalog results