Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3

Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They identified three susceptibility loci associated with this condition. Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women....

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Published in:Nature genetics Vol. 43; no. 1; pp. 55 - 59
Main Authors: Chen, Zi-Jiang, Zhao, Han, He, Lin, Shi, Yuhua, Qin, Yingying, Shi, Yongyong, Li, Zhiqiang, You, Li, Zhao, Junli, Liu, Jiayin, Liang, Xiaoyan, Zhao, Xiaoming, Zhao, Junzhao, Sun, Yingpu, Zhang, Bo, Jiang, Hong, Zhao, Dongni, Bian, Yuehong, Gao, Xuan, Geng, Ling, Li, Yiran, Zhu, Dongyi, Sun, Xiuqin, Xu, Jin-e, Hao, Cuifang, Ren, Chun-e, Zhang, Yajie, Chen, Shiling, Zhang, Wei, Yang, Aijun, Yan, Junhao, Li, Yuan, Ma, Jinlong, Zhao, Yueran
Format: Journal Article
Language:English
Published: New York Nature Publishing Group US 01.01.2011
Nature Publishing Group
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ISSN:1061-4036, 1546-1718, 1546-1718
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Abstract Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They identified three susceptibility loci associated with this condition. Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P -value by meta-analysis P meta = 7.55 × 10 −21 , odds ratio (OR) 0.71); 2p21 (rs13429458, P meta = 1.73 × 10 −23 , OR 0.67); and 9q33.3 (rs2479106, P meta = 8.12 × 10 −19 , OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
AbstractList Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P^sub meta^ = 7.55 × 10^sup -21^, odds ratio (OR) 0.71); 2p21 (rs13429458, P^sub meta^ = 1.73 × 10^sup -23^, OR 0.67); and 9q33.3 (rs2479106, P^sub meta^ = 8.12 × 10^sup -19^, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended. [PUBLICATION ABSTRACT]
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P sub(meta) = 7.55 10 super(-21), odds ratio (OR) 0.71); 2p21 (rs13429458, P sub(meta) = 1.73 10 super(-23), OR 0.67); and 9q33.3 (rs2479106, P sub(meta) = 8.12 10 super(-19), OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They identified three susceptibility loci associated with this condition. Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P -value by meta-analysis P meta = 7.55 × 10 −21 , odds ratio (OR) 0.71); 2p21 (rs13429458, P meta = 1.73 × 10 −23 , OR 0.67); and 9q33.3 (rs2479106, P meta = 8.12 × 10 −19 , OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rs13405728; combined P-value by meta-analysis P(meta) = 7.55 × 10⁻²¹, odds ratio (OR) 0.71); 2p21 (rs13429458, P(meta) = 1.73 × 10⁻²³, OR 0.67); and 9q33.3 (rs2479106, P(meta) = 8.12 × 10⁻¹⁹, OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of PCOS in Han Chinese. The discovery set included 744 PCOS cases and 895 controls; subsequent replications involved two independent cohorts (2,840 PCOS cases and 5,012 controls from northern Han Chinese; 498 cases and 780 controls from southern and central Han Chinese). We identified strong evidence of associations between PCOS and three loci: 2p16.3 (rsl 3405728; combined P-value by meta-analysis [P.sub.meta] = 7.55 x [10.sup.-21], odds ratio (OR) 0.71); 2p21 (rs13429458, [P.sub.meta] = 1.73 x [10.sup.-23], OR 0.67); and 9q33.3 (rs2479106, [P.sub.meta] = 8.12 x [10.sup.-19], OR 1.34). These findings provide new insight into the pathogenesis of PCOS. Follow-up studies of the candidate genes in these regions are recommended.
Audience Academic
Author Zhao, Xiaoming
Ma, Jinlong
Ren, Chun-e
Qin, Yingying
Chen, Zi-Jiang
Li, Yiran
Yang, Aijun
Shi, Yongyong
Zhao, Junzhao
Gao, Xuan
Zhao, Yueran
Bian, Yuehong
He, Lin
Zhang, Bo
Chen, Shiling
Li, Zhiqiang
Zhu, Dongyi
Hao, Cuifang
Zhang, Wei
You, Li
Jiang, Hong
Liu, Jiayin
Zhang, Yajie
Liang, Xiaoyan
Zhao, Han
Yan, Junhao
Sun, Xiuqin
Li, Yuan
Shi, Yuhua
Zhao, Junli
Xu, Jin-e
Geng, Ling
Sun, Yingpu
Zhao, Dongni
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  fullname: Chen, Zi-Jiang
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BackLink https://www.ncbi.nlm.nih.gov/pubmed/21151128$$D View this record in MEDLINE/PubMed
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References_xml – reference: LatronicoACLinsTSBritoVNArnholdIJMendoncaBBThe effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexesClin. Endocrinol.200053609613
– reference: DuJTwo FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndromeMol. Genet. Metab.2010100292295
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– reference: RadziukJInsulin sensitivity and its measurement: structural commonalities among the methodsJ. Clin. Endocrinol. Metab.20008544264433
– reference: XuSGenomic dissection of population substructure of Han Chinese and its implication in association studiesAm. J. Hum. Genet.200985762774
– reference: WildSPierpointTJacobsHMcKeiguePLong-term consequences of polycystic ovary syndrome: results of a 31 year follow-up studyHum. Fertil. (Camb.)20003101105
– reference: LatronicoACA homozygous microdeletion in helix 7 of the luteinizing hormone receptor associated with familial testicular and ovarian resistance is due to both decreased cell surface expression and impaired effector activation by the cell surface receptorMol. Endocrinol.199812442450
– reference: ZegginiEMeta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetesNat. Genet.200840638645
– reference: BarrettJCFryBMallerJDalyMJHaploview: analysis and visualization of LD and haplotype mapsBioinformatics200521263
– reference: KandarakiEChristakouCDiamanti-KandarakisEMetabolic syndrome and polycystic ovary syndrome...; and vice versaArq. Bras. Endocrinol. Metabol.200953227237
– reference: ThomasGCapillary and microelectrophoretic separations of ligase detection reaction products produced from low-abundant point mutations in genomic DNAElectrophoresis20042516681677
– reference: SudoSGenetic and functional analyses of polymorphisms in the human FSH receptor geneMol. Hum. Reprod.20028893899
– reference: VilluendasGSan MillánJLSanchoJEscobar-MorrealeHFThe -597 G→A and -174 G→C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenismJ. Clin. Endocrinol. Metab.20028711341141
– reference: ShiYGaoXSunXZhangPChenZClinical and metabolic characteristics of polycystic ovary syndrome without polycystic ovary: a pilot study on Chinese womenFertil. Steril.20089011391143
– reference: FerrimanDGallweyJDClinical assessment of body hair growth in womenJ. Clin. Endocrinol. Metab.19612114401447
– reference: Olszanecka-GlinianowiczMIs the polycystic ovary syndrome associated with chronic inflammation per se?Eur. J. Obstet. Gynecol. Reprod. Biol.2007133197202
– reference: GoodarziMOAzzizRDiagnosis, epidemiology, and genetics of the polycystic ovary syndromeBest Pract. Res. Clin. Endocrinol. Metab.200620193205
– reference: HuCPPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese populationPLoS ONE20094e7643
– reference: Espinós-GómezJJCorcoyRCalafJPrevalence and predictors of abnormal glucose metabolism in Mediterranean women with polycystic ovary syndromeGynecol. Endocrinol.200925199204
– reference: ShiYAnalysis of clinical characteristics in large-scale Chinese women with polycystic ovary syndromeNeuroendocrinol. Lett.200728807810
– reference: YiPPCR/LDR/capillary electrophoresis for detection of single-nucleotide differences between fetal and maternal DNA in maternal plasmaPrenat. Diagn.200929217222
– reference: PetukhovaLGenome-wide association study in alopecia areata implicates both innate and adaptive immunityNature2010466113117
– reference: CarlsonCSEberleMAKruglyakLNickersonDAMapping complex disease loci in whole-genome association studiesNature2004429446452
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Snippet Zi-Jiang Chen and Yongyong Shi report a genome-wide association study for polycystic ovary syndrome, a common metabolic and endocrine disorder in women. They...
Polycystic ovary syndrome (PCOS) is a common metabolic disorder in women. To identify causative genes, we conducted a genome-wide association study (GWAS) of...
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StartPage 55
SubjectTerms 631/208/205/2138
631/208/727/2000
692/699/2743/1526/1744
Agriculture
Animal Genetics and Genomics
Asian Continental Ancestry Group
Biomedical and Life Sciences
Biomedicine
Body mass index
Cancer Research
Chromosome Mapping
Chromosomes
Chromosomes, Human, Pair 2 - genetics
Chromosomes, Human, Pair 9 - genetics
Confidence intervals
Disease susceptibility
Female
Gene Function
Genetic aspects
Genetic Predisposition to Disease
Genetics
Genome, Human - genetics
Genome-Wide Association Study
Genotype
Human Genetics
Humans
Hypothyroidism
Insulin resistance
letter
Meta-Analysis as Topic
Metabolic disorders
Methods
Odds Ratio
Physiological aspects
Polycystic ovary syndrome
Polycystic Ovary Syndrome - genetics
Principal components analysis
Risk factors
Single nucleotide polymorphisms
Stein-Leventhal syndrome
Studies
Title Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3
URI https://link.springer.com/article/10.1038/ng.732
https://www.ncbi.nlm.nih.gov/pubmed/21151128
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https://www.proquest.com/docview/835118395
https://www.proquest.com/docview/864953192
Volume 43
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