Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria
暂无分享,去创建一个
M. Jarvelin | A. Uitterlinden | T. Spector | M. McCarthy | R. Saxena | U. Thorsteinsdóttir | K. Stefánsson | C. Lindgren | B. Neale | J. Perry | M. Urbanek | G. Thorleifsson | P. Kraft | A. Mahajan | M. Järvelin | U. Styrkarsdottir | L. Davis | K. Ong | M. Goodarzi | Michelle R Jones | V. Anttila | F. Day | M. Hayes | T. Karaderi | L. Broer | A. Drong | C. Welt | E. Stener-Victorin | T. Laisk-Podar | C. Meun | Chunyan He | N. Lin | Hongyan Huang | R. Magi | J. Fernández-Tajes | B. Mullin | B. Stuckey | Scott G Wilson | Barbara Obermeyer-Pietsch | B. Fauser | I. Kowalska | J. Visser | Marianne Anderson | D. Ehrmann | R. Legro | A. Salumets | L. Morin-Papunen | A. Dunaif | J. Laven | S. Franks | M. Andersen | B. Obermayer-Pietsch | Barbara Obermayer-Pietsch | T. Laisk | B. Obermayer-Pietsch | R. Saxena | U. Styrkársdóttir | S. Wilson | Timothy D. Spector | A. Uitterlinden | Reedik Mägi | T. Spector | J. Perry | M. McCarthy | S. Wilson | M. McCarthy | Scott G Wilson | L. Davis | R. Mägi
[1] P. Yadav,et al. A Comparison of the Hormonal Profile of Early Androgenetic Alopecia in Men With the Phenotypic Equivalent of Polycystic Ovarian Syndrome in Women. , 2016, JAMA dermatology.
[2] P. Bork,et al. A method and server for predicting damaging missense mutations , 2010, Nature Methods.
[3] P. Donnelly,et al. A Flexible and Accurate Genotype Imputation Method for the Next Generation of Genome-Wide Association Studies , 2009, PLoS genetics.
[4] R. Ivell,et al. Regulation of the reproductive cycle and early pregnancy by relaxin family peptides , 2014, Molecular and Cellular Endocrinology.
[5] D. Ferriman,et al. Clinical assessment of body hair growth in women. , 1961, The Journal of clinical endocrinology and metabolism.
[6] M. Cedars,et al. Prevalence of androgenic alopecia in patients with polycystic ovary syndrome and characterization of associated clinical and biochemical features. , 2013, Fertility and sterility.
[7] Jon Wakefield,et al. A Bayesian measure of the probability of false discovery in genetic epidemiology studies. , 2007, American journal of human genetics.
[8] R. Norman,et al. Hyperinsulinemia is common in family members of women with polycystic ovary syndrome. , 1996, Fertility and sterility.
[9] D. Wilcken,et al. A twin study of polycystic ovary syndrome and lipids. , 1997, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.
[10] S. Franks,et al. Evidence for a single gene effect causing polycystic ovaries and male pattern baldness , 1993 .
[11] Xiaohui Xie,et al. Identifying novel constrained elements by exploiting biased substitution patterns , 2009, Bioinform..
[12] Bjarni V. Halldórsson,et al. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome , 2015, Nature Communications.
[13] T. Key,et al. Journal of Clinical Endocrinology and Metabolism Printed in U.S.A. Copyright © 1998 by The Endocrine Society Prevalence of the Polycystic Ovary Syndrome in Unselected Black and White Women of the Southeastern United States: A Prospective Study* , 2022 .
[14] J. Danesh,et al. A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease , 2016 .
[15] Reedik Mägi,et al. GWAMA: software for genome-wide association meta-analysis , 2010, BMC Bioinformatics.
[16] C. Dray,et al. LRP1 Receptor Controls Adipogenesis and Is Up-Regulated In Human and Mouse Obese Adipose Tissue , 2009, PloS one.
[17] D. Gaudet,et al. Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway , 2009, Clinical genetics.
[18] Zoltán Kutalik,et al. Quality control and conduct of genome-wide association meta-analyses , 2014, Nature Protocols.
[19] Zhou Wang,et al. Identification and characterization of PLZF as a prostatic androgen‐responsive gene , 2004, The Prostate.
[20] N. Sheehan,et al. Assessing the suitability of summary data for two-sample Mendelian randomization analyses using MR-Egger regression: the role of the I2 statistic , 2016, International journal of epidemiology.
[21] Dolian Gg,et al. Diagnostic criteria for polycystic ovary syndrome , 1989 .
[22] M. McCarthy,et al. Prevalence of polycystic ovaries in women with androgenic alopecia. , 2003, European journal of endocrinology.
[23] Serafim Batzoglou,et al. Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++ , 2010, PLoS Comput. Biol..
[24] Enrico Carmina,et al. Consensus on women's health aspects of polycystic ovary syndrome (PCOS): the Amsterdam ESHRE/ASRM-Sponsored 3rd PCOS Consensus Workshop Group. , 2012, Fertility and sterility.
[25] Warren W. Kretzschmar,et al. Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression , 2017, Nature Genetics.
[26] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[27] Stuart J. Ritchie,et al. Genetic prediction of male pattern baldness , 2016, bioRxiv.
[28] Tatiana A. Tatusova,et al. Gene: a gene-centered information resource at NCBI , 2014, Nucleic Acids Res..
[29] D. Boomsma,et al. 0021-972X/06/$15.00/0 The Journal of Clinical Endocrinology & Metabolism 91(6):2100–2104 Printed in U.S.A. Copyright © 2006 by The Endocrine Society doi: 10.1210/jc.2005-1494 Heritability of Polycystic Ovary Syndrome in a Dutch Twin-Family Study , 2022 .
[30] P. Visscher,et al. Common polygenic variation contributes to risk of schizophrenia and bipolar disorder , 2009, Nature.
[31] Jake K. Byrnes,et al. Bayesian refinement of association signals for 14 loci in 3 common diseases , 2012, Nature Genetics.
[32] M. McCarthy,et al. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations , 2015, Nature Communications.
[33] S. Tevosian,et al. The transcription factor GATA4 is required for follicular development and normal ovarian function. , 2013, Developmental biology.
[34] U. Thorsteinsdóttir,et al. Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry. , 2012, The Journal of clinical endocrinology and metabolism.
[35] Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. , 2004, Fertility and sterility.
[36] R. Clayton,et al. Polycystic ovaries are inherited as an autosomal dominant trait: analysis of 29 polycystic ovary syndrome and 10 control families. , 1999, The Journal of clinical endocrinology and metabolism.
[37] Claude Bouchard,et al. A genome-wide approach accounting for body mass index identifies genetic variants influencing fasting glycemic traits and insulin resistance , 2012, Nature Genetics.
[38] Yun Li,et al. METAL: fast and efficient meta-analysis of genomewide association scans , 2010, Bioinform..
[39] R. Azziz,et al. Referral bias in defining the phenotype and prevalence of obesity in polycystic ovary syndrome. , 2013, Journal of Clinical Endocrinology and Metabolism.
[40] R. Williamson,et al. Evidence for a single gene effect causing polycystic ovaries and male pattern baldness. , 1993, Clinical endocrinology.
[41] P. Claman. Men at risk: occupation and male infertility. , 2004, Fertility and sterility.
[42] Ross M. Fraser,et al. Genetic studies of body mass index yield new insights for obesity biology , 2015, Nature.
[43] Jianhua Ruan,et al. The regulatory repertoire of PLZF and SALL4 in undifferentiated spermatogonia , 2016, Development.
[44] P. Pandolfi,et al. Promyelocytic Leukemia Zinc Finger Protein Activates GATA4 Transcription and Mediates Cardiac Hypertrophic Signaling from Angiotensin II Receptor 2 , 2012, PloS one.
[45] J. Gris,et al. Identification of Patients with Impaired Hepatic Drug Metabolism Using a Limited Sampling Procedure for Estimation of Phenazone (Antipyrine) Pharmacokinetic Parameters , 1993, Clinical pharmacokinetics.
[46] B. Zhang,et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3 , 2011, Nature Genetics.
[47] Olena O Yavorska,et al. MendelianRandomization: an R package for performing Mendelian randomization analyses using summarized data , 2017, International journal of epidemiology.
[48] E. Diamanti-Kandarakis,et al. Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications. , 2012, Endocrine reviews.
[49] R. Norman,et al. The prevalence of polycystic ovary syndrome in a community sample assessed under contrasting diagnostic criteria. , 2010, Human reproduction.
[50] Yuhua Shi,et al. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome , 2012, Nature Genetics.
[51] Tanya M. Teslovich,et al. Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes , 2012, Nature Genetics.
[52] Andrew D. Johnson,et al. Parent-of-origin specific allelic associations among 106 genomic loci for age at menarche , 2014, Nature.
[53] M. Daly,et al. An Atlas of Genetic Correlations across Human Diseases and Traits , 2015, Nature Genetics.
[54] Ian M. Fingerman,et al. Database resources of the National Center for Biotechnology Information , 2010, Nucleic Acids Res..
[55] D. Driscoll,et al. Evidence for a genetic basis for hyperandrogenemia in polycystic ovary syndrome. , 1998, Proceedings of the National Academy of Sciences of the United States of America.
[56] O. Cummings,et al. Genome-wide association study identifies variants associated with histologic features of nonalcoholic Fatty liver disease. , 2010, Gastroenterology.
[57] M. Järvelin,et al. Menstrual disorders in adolescence: a marker for hyperandrogenaemia and increased metabolic risks in later life? Finnish general population-based birth cohort study. , 2012, Human reproduction.
[58] J. Shendure,et al. A general framework for estimating the relative pathogenicity of human genetic variants , 2014, Nature Genetics.
[59] M. Pepper,et al. Genome-wide analysis of gene expression during adipogenesis in human adipose-derived stromal cells reveals novel patterns of gene expression during adipocyte differentiation. , 2016, Stem cell research.
[60] J. Manson,et al. Long or highly irregular menstrual cycles as a marker for risk of type 2 diabetes mellitus. , 2001, JAMA.
[61] Christopher T. Saunders,et al. Evaluation of structural and evolutionary contributions to deleterious mutation prediction. , 2002, Journal of molecular biology.
[62] S. Jahanfar,et al. A twin study of polycystic ovary syndrome. , 1995, Fertility and sterility.
[63] Tanya M. Teslovich,et al. Discovery and refinement of loci associated with lipid levels , 2013, Nature Genetics.
[64] Tim D Spector,et al. The UK Adult Twin Registry (TwinsUK) , 2006, Twin Research and Human Genetics.
[65] R. Azziz,et al. Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS. , 2001, Fertility and sterility.
[66] B. Yıldız,et al. Prevalence, phenotype and cardiometabolic risk of polycystic ovary syndrome under different diagnostic criteria. , 2012, Human reproduction.
[67] G. Abecasis,et al. A Genome-Wide Association Study of Type 2 Diabetes in Finns Detects Multiple Susceptibility Variants , 2007, Science.
[68] L. Liang,et al. A comprehensive survey of genetic variation in 20 , 691 subjects from four large cohorts 1 , 2016 .
[69] J. Lawler,et al. Thrombospondin‐1 inhibits VEGF levels in the ovary directly by binding and internalization via the low density lipoprotein receptor‐related protein‐1 (LRP‐1) , 2007, Journal of cellular physiology.
[70] H. Teede,et al. Polycystic ovary syndrome , 2016, Nature Reviews Disease Primers.
[71] Thomas L. Madden,et al. Database resources of the National Center for Biotechnology Information. , 2019, Nucleic acids research.
[72] L. Liang,et al. Genome-wide association analysis identifies three new susceptibility loci for childhood body mass index. , 2016, Human molecular genetics.
[73] B. Fauser,et al. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome (PCOS). , 2004, Human reproduction.
[74] M. Sammel,et al. High prevalence of moderate and severe depressive and anxiety symptoms in polycystic ovary syndrome: a systematic review and meta-analysis , 2017, Human reproduction.
[75] F. Azizi,et al. The prevalence of polycystic ovary syndrome in a community sample of Iranian population: Iranian PCOS prevalence study , 2011, Reproductive biology and endocrinology : RB&E.
[76] R. Lanz,et al. The Promyelocytic Leukemia Zinc Finger Transcription Factor Is Critical for Human Endometrial Stromal Cell Decidualization , 2016, PLoS genetics.