215 results on '"Zuber, V"'
Search Results
2. Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
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Andreassen, OA, Harbo, HF, Wang, Y, Thompson, WK, Schork, AJ, Mattingsdal, M, Zuber, V, Bettella, F, Ripke, S, Kelsoe, JR, Kendler, KS, O'Donovan, MC, Sklar, P, McEvoy, LK, Desikan, RS, Lie, BA, Djurovic, S, and Dale, AM
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Clinical Research ,Neurosciences ,Multiple Sclerosis ,Prevention ,Autoimmune Disease ,Genetics ,Schizophrenia ,Bipolar Disorder ,Brain Disorders ,Human Genome ,Mental Health ,Serious Mental Illness ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Inflammatory and immune system ,Female ,Follow-Up Studies ,Genetic Pleiotropy ,Genetic Predisposition to Disease ,Genome-Wide Association Study ,Genotype ,HLA Antigens ,Humans ,Male ,Polymorphism ,Single Nucleotide ,false discovery rate ,HLA region ,multiple sclerosis ,polygenic pleiotropy ,schizophrenia ,Psychiatric Genomics Consortium (PGC) Bipolar Disorder and Schizophrenia Work Groups ,International Multiple Sclerosis Genetics Consortium ,Biological Sciences ,Medical and Health Sciences ,Psychology and Cognitive Sciences ,Psychiatry - Abstract
Converging evidence implicates immune abnormalities in schizophrenia (SCZ), and recent genome-wide association studies (GWAS) have identified immune-related single-nucleotide polymorphisms (SNPs) associated with SCZ. Using the conditional false discovery rate (FDR) approach, we evaluated pleiotropy in SNPs associated with SCZ (n=21,856) and multiple sclerosis (MS) (n=43,879), an inflammatory, demyelinating disease of the central nervous system. Because SCZ and bipolar disorder (BD) show substantial clinical and genetic overlap, we also investigated pleiotropy between BD (n=16,731) and MS. We found significant genetic overlap between SCZ and MS and identified 21 independent loci associated with SCZ, conditioned on association with MS. This enrichment was driven by the major histocompatibility complex (MHC). Importantly, we detected the involvement of the same human leukocyte antigen (HLA) alleles in both SCZ and MS, but with an opposite directionality of effect of associated HLA alleles (that is, MS risk alleles were associated with decreased SCZ risk). In contrast, we found no genetic overlap between BD and MS. Considered together, our findings demonstrate genetic pleiotropy between SCZ and MS and suggest that the MHC signals may differentiate SCZ from BD susceptibility.
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- 2015
3. PATHWAYS UNDERLYING URINARY SODIUM AND POTASSIUM EXCRETION AND THE LINK TO BLOOD PRESSURE AND CARDIOVASCULAR DISEASE
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Pazoki, R., Evangelou, E., Mosen-Ansorena, D., Pinto, R., Karaman, I., Blakeley, P., Gill, D., Zuber, V., Elliott, P., Tzoulaki, I., and Dehghan, A.
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- 2019
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4. P14.03.B Glutamate excitotoxicity in brain metastases from lung, breast, and melanoma treated with stereotactic radiosurgery
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Gagliardi, F, primary, Snider, S, additional, Roncelli, F, additional, Pompeo, E, additional, De Domenico, P, additional, Klungtvedt, V, additional, Barzaghi, L R, additional, Comai, S, additional, Zuber, V, additional, Bulotta, A, additional, Bandiera, A, additional, Castellano, A, additional, Ruban, A, additional, and Mortini, P, additional
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- 2022
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5. Triangulating Molecular Evidence to Prioritize Candidate Causal Genes at Established Atopic Dermatitis Loci
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Sobczyk, MK, Richardson, TG, Zuber, V, Min, JL, Gaunt, TR, Paternoster, L, EQTLGen Consortium, BIOS Consortium, and GoDMC
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0301 basic medicine ,bp, base pair ,Candidate gene ,QTL, quantitative trait locus ,Eczema ,Genome-wide association study ,Biochemistry ,eQTL, expression quantitative trait locus ,0302 clinical medicine ,GWAS ,eQTLGen Consortium ,atopic dermatitis ,TWAS, transcriptome-wide association study ,GTEx, Genotype-Tissue Expression ,Atopic dermatitis ,STAT, signal transducer and activator of transcription ,030220 oncology & carcinogenesis ,DNA methylation ,Genetics/Genetic Disease ,Original Article ,BIOS Consortium ,eczema ,Quantitative Trait Loci ,eQTLGen Consortium, BIOS Consortium, GoDMC ,Locus (genetics) ,Dermatology ,triangulation ,Computational biology ,Quantitative trait locus ,Biology ,eQTL ,Article ,Dermatitis, Atopic ,03 medical and health sciences ,medicine ,Humans ,INPP5D ,1112 Oncology and Carcinogenesis ,Molecular Biology ,Gene ,Th, T helper ,Genetic association ,genome-wide association study ,GoDMC ,Dermatology & Venereal Diseases ,1103 Clinical Sciences ,Cell Biology ,AD, atopic dermatitis ,medicine.disease ,030104 developmental biology ,ComputingMethodologies_PATTERNRECOGNITION ,Genetic Loci ,Expression quantitative trait loci ,Surgery ,Genome-Wide Association Study - Abstract
BackgroundGenome-wide association studies for atopic dermatitis (AD, eczema) have identified 25 reproducible loci associated in populations of European descent. We attempt to prioritise candidate causal genes at these loci using a multifaceted bioinformatic approach and extensive molecular resources compiled into a novel pipeline: ADGAPP (Atopic Dermatitis GWAS Annotation & Prioritisation Pipeline).MethodsWe identified a comprehensive list of 103 accessible molecular resources for AD aetiology, including expression, protein and DNA methylation QTL datasets in skin or immune-relevant tissues. These were used to test for overlap with GWAS signals (including colocalisation testing where possible). This was combined with functional annotation based on regulatory variant prediction, and independent genomic features such as chromatin accessibility, promoter-enhancer interactions, splicing sites, non-coding RNA regions, differential expression studies involving eczema patients and fine-mapping of causal variants. For each gene at each locus, we condensed the evidence into a prioritisation score.ResultsAcross the 25 AD loci investigated, we detected significant enrichment of genes with adaptive immune regulatory function and epidermal barrier formation among the top prioritised genes. At 8 loci, we were able to prioritise a single candidate gene (IL6R, ADO, PRR5L, IL7R, ETS1, INPP5D, MDM1, TRAF3). At a further 2 loci, 2 candidate genes emerge (IL18R1/IL18RAP, LRRC32/EMSY). For the majority of these, the prioritised gene has been previously proposed as a plausible candidate, but the evidence we combine here, strengthens the case for many of these. In addition, at 6 of the 25 loci, our ADGAPP analysis prioritises novel alternative candidates (SLC22A5, IL2RA, MDM1, DEXI, ADO, STMN3), highlighting the importance of this comprehensive approach.ConclusionsOur ADGAPP analysis provides additional support for previously implicated genes at several AD GWAS loci, as well as evidence for plausible novel candidates at others. We highlight several genes with good/converging evidence of involvement in AD that represent potential new targets for drug discovery.
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- 2021
6. Exploring the causal effect of maternal pregnancy adiposity on offspring adiposity:Mendelian randomisation using polygenic risk scores
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Bond, T. A. (Tom A.), Richmond, R. C. (Rebecca C.), Karhunen, V. (Ville), Cuellar-Partida, G. (Gabriel), Borges, M. C. (Maria Carolina), Zuber, V. (Verena), Couto Alves, A. (Alexessander), Mason, D. (Dan), Yang, T. C. (Tiffany C.), Gunter, M. J. (Marc J.), Dehghan, A. (Abbas), Tzoulaki, I. (Ioanna), Sebert, S. (Sylvain), Evans, D. M. (David M.), Lewin, A. M. (Alex M.), O’Reilly, P. F. (Paul F.), Lawlor, D. A. (Deborah A.), and Järvelin, M.-R. (Marjo-Riitta)
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BMI ,Offspring ,Pregnancy ,DOHaD ,Maternal ,Obesity ,Child ,Mendelian randomisation - Abstract
Background: Greater maternal adiposity before or during pregnancy is associated with greater offspring adiposity throughout childhood, but the extent to which this is due to causal intrauterine or periconceptional mechanisms remains unclear. Here, we use Mendelian randomisation (MR) with polygenic risk scores (PRS) to investigate whether associations between maternal pre-/early pregnancy body mass index (BMI) and offspring adiposity from birth to adolescence are causal. Methods: We undertook confounder adjusted multivariable (MV) regression and MR using mother-offspring pairs from two UK cohorts: Avon Longitudinal Study of Parents and Children (ALSPAC) and Born in Bradford (BiB). In ALSPAC and BiB, the outcomes were birthweight (BW; N = 9339) and BMI at age 1 and 4 years (N = 8659 to 7575). In ALSPAC only we investigated BMI at 10 and 15 years (N = 4476 to 4112) and dual-energy X-ray absorptiometry (DXA) determined fat mass index (FMI) from age 10–18 years (N = 2659 to 3855). We compared MR results from several PRS, calculated from maternal non-transmitted alleles at between 29 and 80,939 single nucleotide polymorphisms (SNPs). Results: MV and MR consistently showed a positive association between maternal BMI and BW, supporting a moderate causal effect. For adiposity at most older ages, although MV estimates indicated a strong positive association, MR estimates did not support a causal effect. For the PRS with few SNPs, MR estimates were statistically consistent with the null, but had wide confidence intervals so were often also statistically consistent with the MV estimates. In contrast, the largest PRS yielded MR estimates with narrower confidence intervals, providing strong evidence that the true causal effect on adolescent adiposity is smaller than the MV estimates (Pdifference = 0.001 for 15-year BMI). This suggests that the MV estimates are affected by residual confounding, therefore do not provide an accurate indication of the causal effect size. Conclusions: Our results suggest that higher maternal pre-/early-pregnancy BMI is not a key driver of higher adiposity in the next generation. Thus, they support interventions that target the whole population for reducing overweight and obesity, rather than a specific focus on women of reproductive age.
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- 2022
7. Heat transfer in metal foams and designed porous media
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Hutter, C., Büchi, D., Zuber, V., and Rudolf von Rohr, Ph.
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- 2011
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8. The relationship between Lipoprotein A and other lipids with prostate cancer risk: A multivariable Mendelian randomisation study
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Ioannidou, A, Watts, E, Perez-Cornago, A, Platz, E, Mills, I, Key, T, Travis, R, Tsilidis, K, Zuber, V, and The PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS
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The PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS - Abstract
Background Numerous epidemiological studies have investigated the role of blood lipids in prostate cancer (PCa) risk though findings remain inconclusive to date. The ongoing research has mainly involved observational studies which are often prone to confounding. This study aimed to identify the relationship between genetically predicted blood lipid concentrations and PCa. Methods and Findings Data for low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides (TG), apolipoprotein A (apoA) and B (apoB), lipoprotein A (Lp(a)) and PCa were acquired from genome-wide association studies in UK Biobank and the PRACTICAL consortium, respectively. We used a two-sample Mendelian randomisation (MR) approach with both univariable and multivariable (MVMR) models and utilised a variety of robust methods and sensitivity analyses to assess the possibility of MR assumptions violation. No association was observed between genetically predicted concentrations of HDL, TG, apoA and apoB and PCa risk. Genetically predicted LDL concentration was positively associated with total PCa in the univariable analysis but adjustment for HDL, TG and Lp(a) led to a null association. Genetically predicted concentration of Lp(a) was associated with higher total PCa risk in the univariable (ORweighted median per sd = 1.091; 95% CI 1.028-1.157; P=0.004) and MVMR analyses after adjustment for the other lipid traits (ORIVW per sd = 1.068; 95% CI 1.005-1.134; P = 0.034). Genetically predicted Lp(a) was also associated with advanced (MVMR ORIVW per sd = 1.078; 95% CI 0.999-1.163; P=0.055) and early age onset PCa (MVMR ORIVW per sd = 1.150; 95% CI 1.015,1.303; P = 0.028). Although multiple estimation methods were utilized to minimize the effect of pleiotropic traits, the presence of any unmeasured pleiotropy cannot be excluded and may limit our findings. Conclusions We observed that genetically predicted Lp(a) concentrations are associated with an increased PCa risk. Future studies are required to understand the underlying biological pathways of this finding, as it may inform PCa prevention through Lp(a)-lowering strategies.
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- 2021
9. La laïcité française au regard des droits de l'homme : entre garantie de la liberté de conscience et contrȏle du religieux
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Zuber, Valentine
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- 2023
10. The link between attention deficit hyperactivity disorder (ADHD) symptoms and obesity-related traits:genetic and prenatal explanations
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Karhunen, V. (Ville), Bond, T. A. (Tom A.), Zuber, V. (Verena), Hurtig, T. (Tuula), Moilanen, I. (Irma), Järvelin, M.-R. (Marjo-Riitta), Evangelou, M. (Marina), and Rodriguez, A. (Alina)
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mental disorders - Abstract
Attention-deficit/hyperactivity disorder (ADHD) often co-occurs with obesity, however, the potential causality between the traits remains unclear. We examined both genetic and prenatal evidence for causality using Mendelian Randomisation (MR) and polygenic risk scores (PRS). We conducted bi-directional MR on ADHD liability and six obesity-related traits using summary statistics from the largest available meta-analyses of genome-wide association studies. We also examined the shared genetic aetiology between ADHD symptoms (inattention and hyperactivity) and body mass index (BMI) by PRS association analysis using longitudinal data from Northern Finland Birth Cohort 1986 (NFBC1986, n = 2984). Lastly, we examined the impact of the prenatal environment by association analysis of maternal pre-pregnancy BMI and offspring ADHD symptoms, adjusted for PRS of both traits, in NFBC1986 dataset. Through MR analyses, we found evidence for bidirectional causality between ADHD liability and obesity-related traits. PRS association analyses showed evidence for genetic overlap between ADHD symptoms and BMI. We found no evidence for a difference between inattention and hyperactivity symptoms, suggesting that neither symptom subtype is driving the association. We found evidence for association between maternal pre-pregnancy BMI and offspring ADHD symptoms after adjusting for both BMI and ADHD PRS (association p-value = 0.027 for inattention, p = 0.008 for hyperactivity). These results are consistent with the hypothesis that the co-occurrence between ADHD and obesity has both genetic and prenatal environmental origins.
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- 2021
11. ACE inhibition and cardiometabolic risk factors, lung ACE2 and TMPRSS2 gene expression, and plasma ACE2 levels: A Mendelian randomization study: ACE inhibition and ACE2 expression
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Gill, D, Arvanitis, M, Carter, P, Hernández Cordero, AI, Jo, B, Karhunen, V, Larsson, SC, Li, X, Lockhart, SM, Mason, A, Pashos, E, Saha, A, Tan, VY, Zuber, V, Bossé, Y, Fahle, S, Hao, K, Jiang, T, Joubert, P, Lunt, AC, Ouwehand, WH, Roberts, DJ, Timens, W, Van Den Berge, M, Watkins, NA, Battle, A, Butterworth, AS, Danesh, J, Di Angelantonio, E, Engelhardt, BE, Peters, JE, Sin, DD, Burgess, S, Carter, Paul [0000-0002-9146-7540], Mason, Amy [0000-0002-8019-0777], Ouwehand, Willem [0000-0002-7744-1790], Butterworth, Adam [0000-0002-6915-9015], Danesh, John [0000-0003-1158-6791], Di Angelantonio, Emanuele [0000-0001-8776-6719], Burgess, Stephen [0000-0001-5365-8760], and Apollo - University of Cambridge Repository
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angiotensin-converting enzyme inhibitors ,genetic epidemiology ,Mendelian randomization ,COVID-19 ,hormones, hormone substitutes, and hormone antagonists - Abstract
© 2020 The Authors. Angiotensin-converting enzyme 2 (ACE2) and serine protease TMPRSS2 have been implicated in cell entry for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), the virus responsible for coronavirus disease 2019 (COVID-19). The expression of ACE2 and TMPRSS2 in the lung epithelium might have implications for the risk of SARS-CoV-2 infection and severity of COVID-19. We use human genetic variants that proxy angiotensin-converting enzyme (ACE) inhibitor drug effects and cardiovascular risk factors to investigate whether these exposures affect lung ACE2 and TMPRSS2 gene expression and circulating ACE2 levels. We observed no consistent evidence of an association of genetically predicted serum ACE levels with any of our outcomes. There was weak evidence for an association of genetically predicted serum ACE levels with ACE2 gene expression in the Lung eQTL Consortium (p = 0.014), but this finding did not replicate. There was evidence of a positive association of genetic liability to type 2 diabetes mellitus with lung ACE2 gene expression in the Gene-Tissue Expression (GTEx) study (p = 4 × 10 -4) and with circulating plasma ACE2 levels in the INTERVAL study (p = 0.03), but not with lung ACE2 expression in the Lung eQTL Consortium study (p = 0.68). There were no associations of genetically proxied liability to the other cardiometabolic traits with any outcome. This study does not provide consistent evidence to support an effect of serum ACE levels (as a proxy for ACE inhibitors) or cardiometabolic risk factors on lung ACE2 and TMPRSS2 expression or plasma ACE2 levels.
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- 2020
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12. Nonpalpable breast lesions: preoperative radiological guidance in radioguided occult lesion localisation (ROLL)
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Belloni, E., Canevari, C., Panizza, P., Marassi, A., Rodighiero, M., Tacchini, S., Zuber, V., Sassi, I., Gianolli, L., Fazio, F., and Del Maschio, A.
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- 2011
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13. The relationship between lipoprotein A and other lipids with prostate cancer risk: A multivariable Mendelian randomisation study
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Ioannidou, A, Watts, EL, Perez-Cornago, A, Platz, EA, Mills, IG, Key, TJ, Travis, RC, PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS, Tsilidis, KK, Zuber, V, consortium, PRACTICAL, CRUK, BPC3, CAPS, and PEGASUS
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Male ,BLOOD ,Epidemiology ,Physiology ,Single Nucleotide Polymorphisms ,Prostatic Neoplasms/epidemiology ,Biochemistry ,Medicine and Health Sciences ,EPIDEMIOLOGY ,11 Medical and Health Sciences ,Cholesterol, HDL/blood ,CHOLESTEROL ,Prostate Cancer ,Cancer Risk Factors ,Prostate Diseases ,ASSOCIATION ,Genomics ,General Medicine ,Apolipoproteins/blood ,Lipids ,Body Fluids ,Blood ,Cholesterol, LDL/blood ,Oncology ,Medicine ,lipids (amino acids, peptides, and proteins) ,ICEP ,Anatomy ,Research Article ,GENETICS ,Urology ,Lipoproteins ,Lipoprotein(a)/blood ,SDG 3 - Good Health and Well-being ,General & Internal Medicine ,Genetics ,Genome-Wide Association Studies ,Humans ,SERIES LIPOPROTEIN ,Lipids/blood ,Cholesterol, HDL ,Prostatic Neoplasms ,Cancers and Neoplasms ,Biology and Life Sciences ,Proteins ,Computational Biology ,Human Genetics ,Cholesterol, LDL ,Mendelian Randomization Analysis ,Genome Analysis ,PREVENTION ,United Kingdom ,Genitourinary Tract Tumors ,Apolipoproteins ,PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS ,Medical Risk Factors ,APOLIPOPROTEINS ,Genome-Wide Association Study ,Lipoprotein(a) - Abstract
Background Numerous epidemiological studies have investigated the role of blood lipids in prostate cancer (PCa) risk, though findings remain inconclusive to date. The ongoing research has mainly involved observational studies, which are often prone to confounding. This study aimed to identify the relationship between genetically predicted blood lipid concentrations and PCa. Methods and findings Data for low-density lipoprotein (LDL) cholesterol, high-density lipoprotein (HDL) cholesterol, triglycerides (TG), apolipoprotein A (apoA) and B (apoB), lipoprotein A (Lp(a)), and PCa were acquired from genome-wide association studies in UK Biobank and the PRACTICAL consortium, respectively. We used a two-sample summary-level Mendelian randomisation (MR) approach with both univariable and multivariable (MVMR) models and utilised a variety of robust methods and sensitivity analyses to assess the possibility of MR assumptions violation. No association was observed between genetically predicted concentrations of HDL, TG, apoA and apoB, and PCa risk. Genetically predicted LDL concentration was positively associated with total PCa in the univariable analysis, but adjustment for HDL, TG, and Lp(a) led to a null association. Genetically predicted concentration of Lp(a) was associated with higher total PCa risk in the univariable (ORweighted median per standard deviation (SD) = 1.091; 95% CI 1.028 to 1.157; P = 0.004) and MVMR analyses after adjustment for the other lipid traits (ORIVW per SD = 1.068; 95% CI 1.005 to 1.134; P = 0.034). Genetically predicted Lp(a) was also associated with advanced (MVMR ORIVW per SD = 1.078; 95% CI 0.999 to 1.163; P = 0.055) and early age onset PCa (MVMR ORIVW per SD = 1.150; 95% CI 1.015,1.303; P = 0.028). Although multiple estimation methods were utilised to minimise the effect of pleiotropy, the presence of any unmeasured pleiotropy cannot be excluded and may limit our findings. Conclusions We observed that genetically predicted Lp(a) concentrations were associated with an increased PCa risk. Future studies are required to understand the underlying biological pathways of this finding, as it may inform PCa prevention through Lp(a)-lowering strategies., Anna Ioannidou and colleagues investigate the relationship between genetically predicted blood lipid concentrations and prostate cancer., Author summary Why was this study done? Prostate cancer (PCa) is geographically and clinically very heterogeneous, and, as a result, its risk factors may differ according to disease aggressiveness. The established PCa risk factors are mainly non-modifiable, which challenge PCa prevention efforts. Previous observational research has identified associations between blood lipids and PCa, though results remain inconclusive. The aim of this study was to identify evidence for any association between several blood lipids (i.e., LDL, HDL, TG, apoA, apoB, and Lp(a)) and total, advanced, as well as early age onset PCa. What did the researchers do and find? The researchers used genetic variants that are known to be associated with each of the blood lipids, to test whether they were associated with any of the 3 PCa outcomes. This Mendelian randomisation (MR) analysis can reduce the existence of confounding factors and reverse causation, given that genetic variants are randomly allocated and independently assorted during meiosis. MR provides complementary evidence to observational research. This study provided evidence for a positive association between genetically predicted lipoprotein A (Lp(a)) concentrations, but not with other lipids, and risk of total, advanced, and early age onset PCa. What do these findings mean? Elevated Lp(a) could play a potentially important role in increasing the risk of PCa. It remains, however, unclear whether Lp(a) is the causal factor, given that its pathophysiological mechanisms have not been well studied. These findings provide rationale for further Lp(a) research to understand its functionality and role in PCa, which could lead to repurposing lipid drugs for high-risk individuals that target Lp(a) directly and study their effectiveness against PCa.
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- 2022
14. Corrigendum to 'Sentinel node biopsy after primary systemic therapy in node positive breast cancer patients: Time trend, imaging staging power and nodal downstaging according to molecular subtype' (European Journal of Surgical Oncology (2019) 45(6) (969–975), (S0748798319302458), (10.1016/j.ejso.2019.01.219))
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Di Micco R., Zuber V., Fiacco E., Carriero F., Gattuso M. I., Nazzaro L., Panizza P., Gianolli L., Canevari C., Di Muzio N., Pasetti M., Sassi I., Zambetti M., Gentilini O. D., Di Micco, R., Zuber, V., Fiacco, E., Carriero, F., Gattuso, M. I., Nazzaro, L., Panizza, P., Gianolli, L., Canevari, C., Di Muzio, N., Pasetti, M., Sassi, I., Zambetti, M., and Gentilini, O. D.
- Abstract
The authors regret that the author list in reference 27 was written incorrectly and should have been as follows: 27. M. Donker, M.E Straver, J. Wesseling, C.E. Loo, M. Schot, C.A Drukker et al. Marking axillary lymph nodes with radioactive iodine seeds for axillary staging after neoadjuvant systemic treatment in breast cancer patients: the MARI procedure. Ann Surg, 261 (2) (2015), pp. 378-382 The authors would like to apologise for any inconvenience caused.
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- 2019
15. Reforming of naphtha cut in a fluidized bed of catalysts
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Kolesnikov, I. M., Zuber, V. I., Svarovskaya, N. A., and Kolesnikov, S. I.
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- 2008
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16. Mathematical modeling of platforming
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Busenna, Ali, Kolesnikov, I. M., Ovcharov, S. N., Kolesnikov, S. I., and Zuber, V. I.
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- 2007
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17. Cardiometabolic traits, sepsis and severe covid-19 with respiratory failure: a Mendelian randomization investigation
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Mark, PJ, Gkatzionis, A, Walker, V, Grant, A, Wootton, RE, Moore, LSP, Fatumo, S, Mason, A, Zuber, V, Willer, C, Rasheed, H, Brumpton, B, Hveem, K, Damas, JK, Davies, NM, Asvold, BO, Solligard, E, Jones, S, Burgess, S, Rogne, T, and Gill, D
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Cardiovascular System & Hematology ,1103 Clinical Sciences ,1102 Cardiorespiratory Medicine and Haematology ,1117 Public Health and Health Services - Abstract
Objectives: To investigate whether there is a causal effect of cardiometabolic traits on risk of sepsis and severe covid-19. Design: Mendelian randomisation analysis. Setting: UK Biobank and HUNT study population-based cohorts for risk of sepsis, and genome-wide association study summary data for risk of severe covid-19 with respiratory failure. Participants: 12,455 sepsis cases (519,885 controls) and 1,610 severe covid-19 with respiratory failure cases (2,205 controls). Exposure: Genetic variants that proxy body mass index (BMI), lipid traits, systolic blood pressure, lifetime smoking score, and type 2 diabetes liability - derived from studies considering between 188,577 to 898,130 participants. Main outcome measures: Risk of sepsis and severe covid-19 with respiratory failure. Results: Higher genetically proxied BMI and lifetime smoking score were associated with increased risk of sepsis in both UK Biobank (BMI: odds ratio 1.38 per standard deviation increase, 95% confidence interval [CI] 1.27 to 1.51; smoking: odds ratio 2.81 per standard deviation increase, 95% CI 2.09-3.79) and HUNT (BMI: 1.41, 95% CI 1.18 to 1.69; smoking: 1.93, 95% CI 1.02-3.64). Higher genetically proxied BMI and lifetime smoking score were also associated with increased risk of severe covid-19, although with wider confidence intervals (BMI: 1.75, 95% CI 1.20 to 2.57; smoking: 3.94, 95% CI 1.13 to 13.75). There was limited evidence to support associations of genetically proxied lipid traits, systolic blood pressure or type 2 diabetes liability with risk of sepsis or severe covid-19. Similar findings were generally obtained when using Mendelian randomization methods that are more robust to the inclusion of pleiotropic variants, although the precision of estimates was reduced. Conclusions: Our findings support a causal effect of elevated BMI and smoking on risk of sepsis and severe covid-19. Clinical and public health interventions targeting obesity and smoking are likely to reduce sepsis and covid-19 related morbidity, along with the plethora of other health-related outcomes that these traits adversely affect.
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- 2020
18. Impact of Recipient and Donor Ages on Patient and Graft Survival After Kidney Transplantation
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Orsenigo, E., Casiraghi, T., Socci, C., Zuber, V., Caldara, R., Secchi, A., and Staudacher, C.
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- 2007
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19. Multivariate Analysis of Factors Affecting Patient and Graft Survival After Renal Transplant
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Orsenigo, E., Socci, C., Carlucci, M., Zuber, V., Fiorina, P., Gavazzi, F., Secchi, A., Di Carlo, V., and Staudacher, C.
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- 2005
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20. Long-Term survival after kidney and Kidney–Pancreas transplantation in diabetic patients
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Orsenigo, E, Fiorina, P, Cristallo, M, Socci, C, La Rocca, E, Maffi, P, Invernizzi, L, Zuber, V, Secchi, A, and Di Carlo, V
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- 2004
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21. Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer
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Zuber, V., Bettella, F., Witoelar, A.W., Andreassen, O.A., Mills, I.G., Urbanucci, A., Eeles, R.A., Easton, D.F., Kote-Jarai, Z., Al Olama, A.A., Benlloch, S., Muir, K., Giles, G.G., Wiklund, F., Grönberg, H., Haiman, C.A., Schleutker, J., Weischer, M., Travis, R.C., Neal, D., Pharoah, P., Khaw, K.T., Stanford, J.L., Blot, W.J., Thibodeau, S.N., Maier, C., Kibel, A.S., Cybulski, C., Cannon-Albright, L., Brenner, H., Park, J., Kaneva, R., Batra, J., Teixeira, M.R., Pandha, H., Chenevix-Trench, G., Humphreys, M.K., Hung, R.J., Han, Y., Brennan, P., Bickeböller, H., Rosenberger, A., Houlston, R.S., Caporaso, N., Landi, M.T., Heinrich, J., Risch, A., Wu, X., Ye, Y., Christiani, D.C., Amos, C.I., Michailidou, K., Bolla, M.K., Wang, Q., Berchuck, A., Antoniou, A.C., McGuffog, L., Couch, F.J., Offit, K., Dennis, J., Dunning, A.M., Lee, A., Dicks, E., Luccarini, C., Benítez, J., González-Neira, A., Simard, J., Tessier, D.C., Bacot, F., Vincent, D., Laboissiere, S., and Wrightson, R
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Male ,Quantitative Trait Loci ,Breast Neoplasms ,Cell Cycle Proteins ,Brd4 ,Breast Cancer Risk ,Chromatin ,Functional Annotation ,Genome-wide Association Studies ,Prostate Cancer Risk ,Risk Loci ,Schizophrenia ,Snps ,Super-enhancer ,Genome-wide association studies ,Polymorphism, Single Nucleotide ,Epigenesis, Genetic ,Histones ,breast cancer risk ,SDG 3 - Good Health and Well-being ,super-enhancer ,Genetics ,Journal Article ,Humans ,Genetic Predisposition to Disease ,Risk loci ,Binding Sites ,Chromosome Mapping ,Computational Biology ,Nuclear Proteins ,Prostatic Neoplasms ,Functional annotation ,Prostate cancer risk ,schizophrenia ,Gene Expression Regulation, Neoplastic ,Enhancer Elements, Genetic ,Organ Specificity ,Receptors, Androgen ,BRD4 ,Female ,Research Article ,SNPs ,Genome-Wide Association Study ,Protein Binding ,Transcription Factors ,Biotechnology - Abstract
Background Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine tissue or cell identity and driving tumor progression. Although previous approaches have been tried to explain risk associated with SNPs in regulatory DNA elements, so far epigenetic readers such as bromodomain containing protein 4 (BRD4) and super-enhancers have not been used to annotate SNPs. In prostate cancer (PC), androgen receptor (AR) binding sites to chromatin have been used to inform functional annotations of SNPs. Results Here we establish criteria for enhancer mapping which are applicable to other diseases and traits to achieve the optimal tissue-specific enrichment of PC risk SNPs. We used stratified Q-Q plots and Fisher test to assess the differential enrichment of SNPs mapping to specific categories of enhancers. We find that BRD4 is the key discriminant of tissue-specific enhancers, showing that it is more powerful than AR binding information to capture PC specific risk loci, and can be used with similar effect in breast cancer (BC) and applied to other diseases such as schizophrenia. Conclusions This is the first study to evaluate the enrichment of epigenetic readers in genome-wide associations studies for SNPs within enhancers, and provides a powerful tool for enriching and prioritizing PC and BC genetic risk loci. Our study represents a proof of principle applicable to other diseases and traits that can be used to redefine molecular mechanisms of human phenotypic variation. Electronic supplementary material The online version of this article (doi:10.1186/s12864-017-3620-y) contains supplementary material, which is available to authorized users.
- Published
- 2018
22. Mendelian randomization with fine-mapped genetic data: choosing from large numbers of correlated instrumental variables
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Burgess, S, Zuber, V, Valdez-Marquez, E, Sun, B, Hopewell, J, Burgess, Stephen [0000-0001-5365-8760], Zuber, Verena [0000-0001-9827-1877], Sun, Ben [0000-0001-6347-2281], and Apollo - University of Cambridge Repository
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FOS: Computer and information sciences ,Epidemiology ,Coronary Disease ,summarized data ,VARIANTS ,Methodology (stat.ME) ,allele score ,Risk Factors ,Mendelian randomization ,GWAS ,Humans ,Genetic Predisposition to Disease ,Testosterone ,GENOME-WIDE ASSOCIATION ,Statistics - Methodology ,Genetics & Heredity ,Principal Component Analysis ,0604 Genetics ,Science & Technology ,correlated variants ,Models, Genetic ,conditional analysis ,Mendelian Randomization Analysis ,STATISTICS ,1117 Public Health And Health Services ,Mathematical & Computational Biology ,Life Sciences & Biomedicine ,TRAITS - Abstract
Mendelian randomization uses genetic variants to make causal inferences about the effect of a risk factor on an outcome. With fine‐mapped genetic data, there may be hundreds of genetic variants in a single gene region any of which could be used to assess this causal relationship. However, using too many genetic variants in the analysis can lead to spurious estimates and inflated Type 1 error rates. But if only a few genetic variants are used, then the majority of the data is ignored and estimates are highly sensitive to the particular choice of variants. We propose an approach based on summarized data only (genetic association and correlation estimates) that uses principal components analysis to form instruments. This approach has desirable theoretical properties: it takes the totality of data into account and does not suffer from numerical instabilities. It also has good properties in simulation studies: it is not particularly sensitive to varying the genetic variants included in the analysis or the genetic correlation matrix, and it does not have greatly inflated Type 1 error rates. Overall, the method gives estimates that are less precise than those from variable selection approaches (such as using a conditional analysis or pruning approach to select variants), but are more robust to seemingly arbitrary choices in the variable selection step. Methods are illustrated by an example using genetic associations with testosterone for 320 genetic variants to assess the effect of sex hormone related pathways on coronary artery disease risk, in which variable selection approaches give inconsistent inferences.
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- 2017
- Full Text
- View/download PDF
23. Bromodomain protein 4 discriminates tissue-specific super-enhancers containing disease-specific susceptibility loci in prostate and breast cancer
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Zuber, V, Bettella, F, Witoelar, A, Andreassen, OA, Mills, IG, Urbanucci, A, Eeles, R, Easton, D, Kote-Jarai, Z, Al Olama, AA, Benlloch, S, Muir, K, Giles, GG, Wiklund, F, Gronberg, H, Haiman, CA, Schleutker, J, Weischer, M, Travis, RC, Neal, D, Pharoah, P, Khaw, KT, Stanford, JL, Blot, WJ, Thibodeau, S, Maier, C, Kibel, AS, Cybulski, C, Cannon-Albright, L, Brenner, H, Park, J, Kaneva, R, Batra, J, Teixeira, MR, Pandha, H, Chenevix-Trench, G, Humphreys, M, Hung, RJ, Han, Y, Brennan, P, Bickeböller, H, Rosenberger, A, Houlston, RS, Caporaso, N, Landi, MT, Heinrich, J, Risch, A, Wu, X, Ye, Y, Christiani, DC, Amos, CI, Easton, DF, Michailidou, K, Bolla, MK, Wang, Q, Berchuck, A, Antoniou, A, McGuffog, L, Couch, F, Offit, K, Dennis, J, Dunning, AM, Lee, A, Dicks, E, Luccarini, C, Benitez, J, Gonzalez-Neira, A, Simard, J, Tessier, DC, Bacot, F, Vincent, D, LaBoissière, S, Zuber, Verena [0000-0001-9827-1877], Pharoah, Paul [0000-0001-8494-732X], Khaw, Kay-Tee [0000-0002-8802-2903], Easton, Douglas [0000-0003-2444-3247], Wang, Jean [0000-0002-9139-0627], Antoniou, Antonis [0000-0001-9223-3116], Dennis, Joe [0000-0003-4591-1214], Dunning, Alison [0000-0001-6651-7166], Lee, Andrew [0000-0003-0677-0252], Dicks, Ed [0000-0002-0617-0401], and Apollo - University of Cambridge Repository
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risk loci ,schizophrenia ,breast cancer risk ,super-enhancer ,genome-wide association studies ,BRD4 ,chromatin ,functional annotation ,prostate cancer risk ,SNPs - Abstract
$\textbf{Background:}$ Epigenetic information can be used to identify clinically relevant genomic variants single nucleotide polymorphisms (SNPs) of functional importance in cancer development. Super-enhancers are cell-specific DNA elements, acting to determine tissue or cell identity and driving tumor progression. Although previous approaches have been tried to explain risk associated with SNPs in regulatory DNA elements, so far epigenetic readers such as bromodomain containing protein 4 (BRD4) and super-enhancers have not been used to annotate SNPs. In prostate cancer (PC), androgen receptor (AR) binding sites to chromatin have been used to inform functional annotations of SNPs. $\textbf{Results:}$ Here we establish criteria for enhancer mapping which are applicable to other diseases and traits to achieve the optimal tissue-specific enrichment of PC risk SNPs. We used stratified Q-Q plots and Fisher test to assess the differential enrichment of SNPs mapping to specific categories of enhancers. We find that BRD4 is the key discriminant of tissue-specific enhancers, showing that it is more powerful than AR binding information to capture PC specific risk loci, and can be used with similar effect in breast cancer (BC) and applied to other diseases such as schizophrenia. $\textbf{Conclusions:}$ This is the first study to evaluate the enrichment of epigenetic readers in genome-wide associations studies for SNPs within enhancers, and provides a powerful tool for enriching and prioritizing PC and BC genetic risk loci. Our study represents a proof of principle applicable to other diseases and traits that can be used to redefine molecular mechanisms of human phenotypic variation.
- Published
- 2017
- Full Text
- View/download PDF
24. Genetic Markers of Human Evolution Are Enriched in Schizophrenia
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Srinivasan, S, Bettella, F, Mattingsdal, M, Wang, Y, Witoelar, A, Schork, AJ, Thompson, WK, Zuber, V, Winsvold, BS, Zwart, JA, Collier, DA, Desikan, RS, Melle, I, Werge, T, Dale, AM, Djurovic, S, and Andreassen, OA
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mental disorders - Abstract
© 2016 Society of Biological Psychiatry Background Why schizophrenia has accompanied humans throughout our history despite its negative effect on fitness remains an evolutionary enigma. It is proposed that schizophrenia is a by-product of the complex evolution of the human brain and a compromise for humans’ language, creative thinking, and cognitive abilities. Methods We analyzed recent large genome-wide association studies of schizophrenia and a range of other human phenotypes (anthropometric measures, cardiovascular disease risk factors, immune-mediated diseases) using a statistical framework that draws on polygenic architecture and ancillary information on genetic variants. We used information from the evolutionary proxy measure called the Neanderthal selective sweep (NSS) score. Results Gene loci associated with schizophrenia are significantly (p = 7.30 × 10−9) more prevalent in genomic regions that are likely to have undergone recent positive selection in humans (i.e., with a low NSS score). Variants in brain-related genes with a low NSS score confer significantly higher susceptibility than variants in other brain-related genes. The enrichment is strongest for schizophrenia, but we cannot rule out enrichment for other phenotypes. The false discovery rate conditional on the evolutionary proxy points to 27 candidate schizophrenia susceptibility loci, 12 of which are associated with schizophrenia and other psychiatric disorders or linked to brain development. Conclusions Our results suggest that there is a polygenic overlap between schizophrenia and NSS score, a marker of human evolution, which is in line with the hypothesis that the persistence of schizophrenia is related to the evolutionary process of becoming human.
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- 2016
25. Task-related Edge Density (TED)-a new method for revealing dynamic network formation in fMRI data of the human brain
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Lohmann, G., Stelzer, J., Zuber, V., Buschmann, T., Margulies, D., Bartels, A., Scheffler, K., and Publica
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Emotions ,Social Sciences ,lcsh:Medicine ,Hands ,Statistical Inference ,Diagnostic Radiology ,ACTIVATION ,Mathematical and Statistical Techniques ,Functional Magnetic Resonance Imaging ,Medicine and Health Sciences ,Psychology ,lcsh:Science ,Musculoskeletal System ,Brain Mapping ,Radiology and Imaging ,Applied Mathematics ,Simulation and Modeling ,PSYCHOPHYSIOLOGICAL INTERACTIONS ,Brain ,FUNCTIONAL CONNECTIVITY ,Magnetic Resonance Imaging ,FALSE DISCOVERY RATE ,Multidisciplinary Sciences ,Arms ,Physical Sciences ,Science & Technology - Other Topics ,Anatomy ,Network Analysis ,Statistics (Mathematics) ,Algorithms ,Research Article ,Computer and Information Sciences ,CORTEX ,Neural Networks ,Permutation ,Imaging Techniques ,HUMAN CONNECTOME PROJECT ,General Science & Technology ,Neuroimaging ,ORGANIZATION ,Research and Analysis Methods ,Diagnostic Medicine ,PARCELLATION ,Humans ,WHOLE-BRAIN ,Statistical Methods ,SMALL-WORLD ,Science & Technology ,Models, Statistical ,Discrete Mathematics ,Limbs (Anatomy) ,lcsh:R ,Biology and Life Sciences ,Oxygen ,Combinatorics ,lcsh:Q ,Mathematics ,Neuroscience - Abstract
The formation of transient networks in response to external stimuli or as a reflection of internal cognitive processes is a hallmark of human brain function. However, its identification in fMRI data of the human brain is notoriously difficult. Here we propose a new method of fMRI data analysis that tackles this problem by considering large-scale, task-related synchronisation networks. Networks consist of nodes and edges connecting them, where nodes correspond to voxels in fMRI data, and the weight of an edge is determined via task-related changes in dynamic synchronisation between their respective times series. Based on these definitions, we developed a new data analysis algorithm that identifies edges that show differing levels of synchrony between two distinct task conditions and that occur in dense packs with similar characteristics. Hence, we call this approach ""Task-related Edge Density"" (TED). TED proved to be a very strong marker for dynamic network formation that easily lends itself to statistical analysis using large scale statistical inference. A major advantage of TED compared to other methods is that it does not depend on any specific hemodynamic response model, and it also does not require a presegmentation of the data for dimensionality reduction as it can handle large networks consisting of tens of thousands of voxels. We applied TED to fMRI data of a fingertapping and an emotion processing task provided by the Human Connectome Project. TED revealed network-based involvement of a large number of brain areas that evaded detection using traditional GLM-based analysis. We show that our proposed method provides an entirely new window into the immense complexity of human brain function.
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- 2016
26. Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
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Reppe, S, Wang, Y, Thompson, WK, McEvoy, LK, Schork, AJ, Zuber, V, LeBlanc, M, Bettella, F, Mills, IG, Desikan, RS, Djurovic, S, Gautvik, KM, Dale, AM, Andreassen, OA, Estrada, K, Styrkarsdottir, U, Evangelou, E, Hsu, YH, Duncan, EL, Ntzani, EE, Oei, L, Albagha, OME, Amin, N, Kemp, JP, Koller, DL, Li, G, Liu, CT, Minster, RL, Moayyeri, A, Vandenput, L, Willner, D, Xiao, SM, Yerges-Armstrong, LM, Zheng, HF, Alonso, N, Eriksson, J, Kammerer, CM, Kaptoge, SK, Leo, PJ, Thorleifsson, G, Wilson, SG, Wilson, JF, Aalto, V, Alen, M, Aragaki, AK, Aspelund, T, Center, JR, Dailiana, Z, Duggan, DJ, Garcia, M, Garcia-Giralt, N, Giroux, S, Hallmans, G, Hocking, LJ, Husted, LB, Jameson, KA, Khusainova, R, Kim, GS, Kooperberg, C, Koromila, T, Kruk, M, Laaksonen, M, and Lacroix, AZ
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musculoskeletal diseases ,General Science & Technology ,MD Multidisciplinary - Abstract
© 2015 Reppe et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity.
- Published
- 2015
27. Identification and validation of a novel blood-based biomarker of aggressive prostate cancer
- Author
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Guldvik, I.J., primary, Grytli, H., additional, Zuber, V., additional, Thiede, B., additional, Saatcioglu, F., additional, Gislefoss, R., additional, Kvåle, R., additional, George, A., additional, Gnanapragasam, V., additional, Grönberg, H., additional, Wiklund, F., additional, Neal, D., additional, Mills, I., additional, and Taskén K, A., additional
- Published
- 2017
- Full Text
- View/download PDF
28. Modelling difficulties in abstract thinking in psychosis: the importance of socio-developmental background
- Author
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Berg, A. O., primary, Melle, I., additional, Zuber, V., additional, Simonsen, C., additional, Nerhus, M., additional, Ueland, T., additional, Andreassen, O. A., additional, Sundet, K., additional, and Vaskinn, A., additional
- Published
- 2016
- Full Text
- View/download PDF
29. Genetic sharing with cardiovascular disease risk factors and diabetes reveals novel bone mineral density loci
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Reppe, S. Wang, Y. Thompson, W.K. McEvoy, L.K. Schork, A.J. Zuber, V. LeBlanc, M. Bettella, F. Mills, I.G. Desikan, R.S. Djurovic, S. Gautvik, K.M. Dale, A.M. Andreassen, O.A. Estrada, K. Styrkarsdottir, U. Evangelou, E. Hsu, Y.-H. Duncan, E.L. Ntzani, E.E. Oei, L. Albagha, O.M.E. Amin, N. Kemp, J.P. Koller, D.L. Li, G. Liu, C.-T. Minster, R.L. Moayyeri, A. Vandenput, L. Willner, D. Xiao, S.-M. Yerges-Armstrong, L.M. Zheng, H.-F. Alonso, N. Eriksson, J. Kammerer, C.M. Kaptoge, S.K. Leo, P.J. Thorleifsson, G. Wilson, S.G. Wilson, J.F. Aalto, V. Alen, M. Aragaki, A.K. Aspelund, T. Center, J.R. Dailiana, Z. Duggan, D.J. Garcia, M. Garcia-Giralt, N. Giroux, S. Hallmans, G. Hocking, L.J. Husted, L.B. Jameson, K.A. Khusainova, R. Kim, G.S. Kooperberg, C. Koromila, T. Kruk, M. Laaksonen, M. Lacroix, A.Z. Lee, S.H. Leung, P.C. Lewis, J.R. Masi, L. Mencej-Bedrac, S. Nguyen, T.V. Nogues, X. Patel, M.S. Prezelj, J. Rose, L.M. Scollen, S. Siggeirsdottir, K. Smith, A.V. Svensson, O. Trompet, S. Trummer, O. Van Schoor, N.M. Woo, J. Zhu, K. Balcells, S. Brandi, M.L. Buckley, B.M. Cheng, S. Christiansen, C. Cooper, C. Dedoussis, G. Ford, I. Frost, M. Goltzman, D. González-Macías, J. Kähönen, M. Karlsson, M. Khusnutdinova, E. Koh, J.-M. Kollia, P. Langdahl, B.L. Leslie, W.D. Lips, P. Ljunggren, Ö. Lorenc, R.S. Marc, J. Mellström, D. Obermayer-Pietsch, B. Olmos, J.M. Pettersson-Kymmer, U. Reid, D.M. Riancho, J.A. Ridker, P.M. Rousseau, F. Slagboom, P.E. Tang, N.L.S. Urreizti, R. Van Hul, W. Viikari, J. Zarrabeitia, M.T. Aulchenko, Y.S. Castano-Betancourt, M. Grundberg, E. Herrera, L. Ingvarsson, T. Johannsdottir, H. Kwan, T. Li, R. Luben, R. Medina-Gómez, C. Palsson, S.Th. Rotter, J.I. Sigurdsson, G. Van Meurs, J.B.J. Verlaan, D. Williams, F.M.K. Wood, A.R. Zhou, Y. Pastinen, T. Raychaudhuri, S. Cauley, J.A. Chasman, D.I. Clark, G.R. Cummings, S.R. Danoy, P. Dennison, E.M. Eastell, R. Eisman, J.A. Gudnason, V. Hofman, A. Jackson, R.D. Jones, G. Jukema, J.W. Khaw, K.-T. Lehtimäki, T. Liu, Y. Lorentzon, M. McCloskey, E. Mitchell, B.D. Nandakumar, K. Nicholson, G.C. Oostra, B.A. Peacock, M. Pols, H.A.P. Prince, R.L. Raitakari, O. Reid, I.R. Robbins, J. Sambrook, P.N. Sham, P.C. Shuldiner, A.R. Tylavsky, F.A. Van Duijn, C.M. Wareham, N.J. Cupples, L.A. Econs, M.J. Evans, D.M. Harris, T.B. Kung, A.W.C. Psaty, B.M. Reeve, J. Spector, T.D. Streeten, E.A. Zillikens, M.C. Thorsteinsdottir, U. Ohlsson, C. Karasik, D. Richards, J.B. Brown, M.A. Stefansson, K. Uitterlinden, A.G. Ralston, S.H. Ioannidis, J.P.A. Kiel, D.P. Rivadeneira, F. GEFOS Consortium
- Subjects
musculoskeletal diseases - Abstract
Bone Mineral Density (BMD) is a highly heritable trait, but genome-wide association studies have identified few genetic risk factors. Epidemiological studies suggest associations between BMD and several traits and diseases, but the nature of the suggestive comorbidity is still unknown. We used a novel genetic pleiotropy-informed conditional False Discovery Rate (FDR) method to identify single nucleotide polymorphisms (SNPs) associated with BMD by leveraging cardiovascular disease (CVD) associated disorders and metabolic traits. By conditioning on SNPs associated with the CVD-related phenotypes, type 1 diabetes, type 2 diabetes, systolic blood pressure, diastolic blood pressure, high density lipoprotein, low density lipoprotein, triglycerides and waist hip ratio, we identified 65 novel independent BMD loci (26 with femoral neck BMD and 47 with lumbar spine BMD) at conditional FDR < 0.01. Many of the loci were confirmed in genetic expression studies. Genes validated at the mRNA levels were characteristic for the osteoblast/osteocyte lineage, Wnt signaling pathway and bone metabolism. The results provide new insight into genetic mechanisms of variability in BMD, and a better understanding of the genetic underpinnings of clinical comorbidity. © 2015 Reppe et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
- Published
- 2015
30. Triple Arterial Reconstruction Improves Vascularization of Whole Pancreas for Transplantation
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Socci, C., Orsenigo, E., Zuber, V., Caldara, R., Castoldi, R., Parolini, D., Secchi, A., and Staudacher, C.
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- 2006
- Full Text
- View/download PDF
31. Nonpalpable breast lesions: preoperative radiological guidance in radioguided occult lesion localisation (ROLL). Lesioni mammarie non palpabili: la guida radiologica preoperatoria nella ROLL (radioguided occult lesion localisation)
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Belloni, E, Canevari, C, Panizza, P, Marassi, A, Rodighiero, M, Tacchini, S, Zuber, V, Sassi, I, Gianolli, L, Del Maschio, A., FAZIO, FERRUCCIO, Belloni, E, Canevari, C, Panizza, P, Marassi, A, Rodighiero, M, Tacchini, S, Zuber, V, Sassi, I, Gianolli, L, Fazio, F, and Del Maschio, A
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Breast lesion, Radioguided localisation, Mammography, Ultrasonography - Abstract
PURPOSE: This study evaluated the methods, technical aspects and impact of preoperative radiological guidance in radioguided occult lesion localisation (ROLL) for single nonpalpable breast lesions. MATERIALS AND METHODS: A total of 288 patients underwent ROLL before surgery. Human serum albumin macroaggregates labelled with 3.7-7.4 MBq of technetium(99) were injected into the lesion. In the case of ultrasonographic guidance (221/288 patients), inoculum positioning resulted in a change of echogenicity at the lesion site. In the case of mammographic guidance (67/288 patients), iodinated contrast medium was injected following the radiotracer for subsequent mammographic evaluation. Patients underwent surgery within 24 h from ROLL. A gamma-detecting probe was used to locate the lesion during surgery and guide its removal. After excision, the specimen was examined by either ultrasonography or mammography to verify complete lesion removal before histological evaluation. RESULTS: The lesion was correctly localised in 281/288 patients (97.5%). One ROLL procedure failed because surgery could not be performed within 24 h and the radioactivity decayed. Of the six incorrect localisations, 2 were due to the radiological guidance and 4 to technetium(99) dispersion. CONCLUSIONS: Radiological guidance in ROLL ensured the outcome of the procedure of localisation and removal of single, nonpalpable breast lesions in the majority of cases.
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- 2011
32. Cardiovascular Benefits of Simultaneous Pancreas–Kidney Transplant Versus Kidney Alone Transplant in Diabetic Patients
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Orsenigo, E., Socci, C., Fiorina, P., Zuber, V., Secchi, A., Di Carlo, V., and Staudacher, C.
- Published
- 2005
- Full Text
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33. Les politiques publiques liées aux minorités linguistiques : une comparaison entre les régimes linguistiques de la Suisse et du Canada
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Zuber, V.
- Published
- 2014
34. Partial volume corrected 18F-FDG PET mean standardized uptake value correlates with prognostic factors in breast cancer
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Gallivanone F. 1, Canevari C. 2, Sassi I. 3, Zuber V. 4, Marassi A. 4, Gianolli L. 2, Picchio M. 1, 2, Messa C. 1, 5, Gilardi M. C. 1, and Castiglioni I. 1
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breast cancer ,18F-FDG PET - Abstract
AIM: The aim of this paper was to assess the prognostic role of pretherapy partial volume corrected (PVC) 18F-fluorodeoxyglucose mean standardized uptake value (SUV) in breast cancer (BC). METHODS: Forty oncological patients, BC diagnosed by biopsy, with breast tumor mass diameter >1 cm measured to the mammography, designed for surgical intervention, underwent a pretherapy semi-quantitative 18F-FDG positron emission tomography/computed tomography (18F-FDG PET/CT) whole-body study for tumor staging. Mean Body-Weight Standardized Uptake Value with Correction for Partial Volume effect (PVC- SUVBW-mean) was calculated in all mammary detected lesions. Excised tissues from primitive BC were sectioned and classified according to the WHO guidelines, evaluating biological features. Univariate (Mann-Withney/Kruskal-Wallis) and multivariate (linear regression, hierarchical clustering) statistical tests were performed between PVC-SUVBW-mean and biological indexes. ROC analysis was performed. PVC-SUVBW-mean thresholds were derived allowing to distinguish groups of BC patients with different biological characteristics. Specificity and Sensitivity were also calculated. RESULTS: Statistical and multiple correlations between pretherapy 18F-FDG PET PVC-SUVBW-mean and histological type, grade, ER/PgR hormone receptors and Mib-1 cellular proliferation index were found. In our samples, PVC-SUVBW-mean ?7.00 is associated to BC patients with moderately and poorly differentiated IDC, negative expression of ER and PgR and a positive expression of MiB-1. CONCLUSION: Pretherapy PVC 18F-FDG PET PVC-SUVBW-mean measurement correlates with prognostic factors in BC and could be used to stratify patients before intervention.
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- 2014
35. Trapianto di pancreas singolo nel paziente diabetico: esperienza preliminare
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Staudacher C, Zuber V, Socci C, Orsenigo E, Castaldi R, Pagani GM, Gavazzi F, ALDRIGHETTI L, Maffi P, Carlucci M, Cristallo M, Secchi A, Di Carlo V, Staudacher, C, Zuber, V, Socci, C, Orsenigo, E, Castaldi, R, Pagani, Gm, Gavazzi, F, Aldrighetti, L, Maffi, P, Carlucci, M, Cristallo, M, Secchi, A, and Di Carlo, V
- Published
- 2004
36. Abnormal absorptive function of the small bowel following ischemia-reperfusion injury: Protection afforded by pyruvate
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Cicalese L, Brown M, Sileri P, Morini S, Zuber V, Blanchard J, Rastellini C, Benedetti E, Cicalese, L, Brown, M, Sileri, P, Morini, S, Zuber, V, Blanchard, J, Rastellini, C, and Benedetti, E
- Published
- 2000
37. Abnormal absorptive function of the small bowel following ischemia-reperfusion injury protection afforded by pyruvate
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Cicalese L., Brown M., Sileri P, Morini S., Zuber V., Blanchard J., Rastellini C., Cicalese, L., Brown, M., Sileri, P, Morini, S., Zuber, V., Blanchard, J., and Rastellini, C.
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- 2000
38. Experimental obstructive jaundice and bacterial translocation
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Sileri P, Morini S., Sica GS., Zuber V., Rastellini C., Gaspari AL., Cicalese L., Sileri, P, Morini, S., Sica, Gs., Zuber, V., Rastellini, C., Gaspari, Al., and Cicalese, L.
- Published
- 1999
39. 626 - Identification and validation of a novel blood-based biomarker of aggressive prostate cancer
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Guldvik, I.J., Grytli, H., Zuber, V., Thiede, B., Saatcioglu, F., Gislefoss, R., Kvåle, R., George, A., Gnanapragasam, V., Grönberg, H., Wiklund, F., Neal, D., Mills, I., and Taskén K, A.
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- 2017
- Full Text
- View/download PDF
40. Modelling difficulties in abstract thinking in psychosis: the importance of socio-developmental background.
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Berg, A. O., Melle, I., Zuber, V., Simonsen, C., Nerhus, M., Ueland, T., Andreassen, O. A., Sundet, K., and Vaskinn, A.
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PSYCHOSES ,PSYCHIATRIC treatment ,ABSTRACT thought ,PSYCHOTIC depression ,INTELLIGENCE levels ,SCANDINAVIAN languages ,IMMIGRANTS ,MENTAL health ,THERAPEUTICS - Abstract
Introduction:Abstract thinking is important in modern understanding of neurocognitive abilities, and a symptom of thought disorder in psychosis. In patients with psychosis, we assessed if socio-developmental background influences abstract thinking, and the association with executive functioning and clinical psychosis symptoms. Methods:Participants (n = 174) had a diagnosis of psychotic or bipolar disorder, were 17–65 years, intelligence quotient (IQ) > 70, fluent in a Scandinavian language, and their full primary education in Norway. Immigrants (N = 58) were matched (1:2) with participants without a history of migration (N = 116). All participants completed a neurocognitive and clinical assessment. Socio-developmental background was operationalised as human developmental index (HDI) of country of birth, at year of birth. Structural equation modelling was used to assess the model with best fit. Results:The model with best fit,χ2 = 96.591, df = 33,p < .001, confirmed a significant indirect effect of HDI scores on abstract thinking through executive functioning, but not through clinical psychosis symptoms. Conclusions:This study found that socio-developmental background influences abstract thinking in psychosis by indirect effect through executive functioning. We should take into account socio-developmental background in the interpretation of neurocognitive performance in patients with psychosis, and prioritise cognitive remediation in treatment of immigrant patients. [ABSTRACT FROM PUBLISHER]
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- 2017
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41. Revascularization and remodeling of transplanted pancreatic islets
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Rastellini, C, Zuber, V, Perrone, G, Cicalese, L, Gaudio, E, Benedetti, E, and Morini, S
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- 2001
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42. Revascularization of transplanted pancreatic islets
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Morini, S., Rastellini, C., Perrone, G., Zuber, V., Cicalese, L., and Gaudio, Eugenio
- Published
- 2000
43. Comparison of calorimetric plasma diagnostics in a plasma downstream reactor
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Roth, C, primary, Bornholdt, S, additional, Zuber, V, additional, Sonnenfeld, A, additional, Kersten, H, additional, and Rudolf von Rohr, P, additional
- Published
- 2011
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44. Effects of age and gender on sleep-related plasma renin levels
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Schüssler, P, primary, Kluge, M, additional, Uhr, M, additional, Dresler, M, additional, Frick, H, additional, Zuber, V, additional, Holsboer, F, additional, Yassouridis, A, additional, and Steiger, A, additional
- Published
- 2007
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45. Time of pulsatile ghrelin administration determines effect on sleep
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Schüssler, P, primary, Kluge, M, additional, Zuber, V, additional, Yassouridis, A, additional, and Steiger, A, additional
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- 2007
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46. Changes of sleep related renin secretion after sleep deprivation in humans
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Schuessler, P, primary, Kuge, M, additional, Uhr, M, additional, Weikel, JC, additional, Mathias, S, additional, Zuber, V, additional, Yassouridis, A, additional, and Steiger, A, additional
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- 2006
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47. Altered nocturnal growth hormone (GH) secretion in obsessive compulsive disorder
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KLUGE, M, primary, SCHUSSLER, P, additional, WEIKEL, J, additional, DRESLER, M, additional, ZUBER, V, additional, QUERFURT, F, additional, YASSOURIDIS, A, additional, and STEIGER, A, additional
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- 2006
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48. LONG- TERM SURVIVAL AFTER KIDNEY AND KIDNEY AND PANCREAS TRANSPLANTATION IN DIABETIC PATIENTS
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Orsenigo, E., primary, Cristallo, M., additional, Socci, C., additional, Fiorina, P., additional, Rocca, E. La, additional, Invernizzi, L., additional, Zuber, V., additional, Secchi, A., additional, and Carlo, V. Di, additional
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- 2003
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49. Metrological provisions for ionizing-radiation scintillation detectors
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Tsirlin, Yu. A., Zelenskaya, O. V., Zuber, V. M., Matvievskaya, G. I., Sysoeva, E. P., and Cherikovskaya, V. Ya.
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- 1980
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50. Genetic pleiotropy between multiple sclerosis and schizophrenia but not bipolar disorder: differential involvement of immune-related gene loci
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Andreassen, O A, Harbo, H F, Wang, Y, Thompson, W K, Schork, A J, Mattingsdal, M, Zuber, V, Bettella, F, Ripke, S, Kelsoe, J R, Kendler, K S, O'Donovan, M C, Sklar, P, McEvoy, L K, Desikan, R S, Lie, B A, Djurovic, S, and Dale, A M
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false discovery rate ,HLA region ,multiple sclerosis ,polygenic pleiotropy ,schizophrenia - Abstract
Converging evidence implicates immune abnormalities in schizophrenia (SCZ), and recent genome-wide association studies (GWAS) have identified immune-related single-nucleotide polymorphisms (SNPs) associated with SCZ. Using the conditional false discovery rate (FDR) approach, we evaluated pleiotropy in SNPs associated with SCZ (n=21 856) and multiple sclerosis (MS) (n=43 879), an inflammatory, demyelinating disease of the central nervous system. Because SCZ and bipolar disorder (BD) show substantial clinical and genetic overlap, we also investigated pleiotropy between BD (n=16 731) and MS. We found significant genetic overlap between SCZ and MS and identified 21 independent loci associated with SCZ, conditioned on association with MS. This enrichment was driven by the major histocompatibility complex (MHC). Importantly, we detected the involvement of the same human leukocyte antigen (HLA) alleles in both SCZ and MS, but with an opposite directionality of effect of associated HLA alleles (that is, MS risk alleles were associated with decreased SCZ risk). In contrast, we found no genetic overlap between BD and MS. Considered together, our findings demonstrate genetic pleiotropy between SCZ and MS and suggest that the MHC signals may differentiate SCZ from BD susceptibility.
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- 2015
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- View/download PDF
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