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Volumn 43, Issue 1, 2011, Pages 55-59

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

(34)  Chen, Zi Jiang a,b   Zhao, Han a,b   He, Lin c,d,e   Shi, Yuhua a,b   Qin, Yingying a,b   Shi, Yongyong d   Li, Zhiqiang d   You, Li a,b   Zhao, Junli f   Liu, Jiayin g   Liang, Xiaoyan h   Zhao, Xiaoming i   Zhao, Junzhao j   Sun, Yingpu k   Zhang, Bo l   Jiang, Hong m   Zhao, Dongni n   Bian, Yuehong a,b   Gao, Xuan a,b   Geng, Ling a,b   more..


Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CHINESE; CHROMOSOME 2; COHORT ANALYSIS; CONTROLLED STUDY; FEMALE; FOLLOW UP; GENE IDENTIFICATION; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOME; HUMAN; INTROSPECTION; MAJOR CLINICAL STUDY; OVARY POLYCYSTIC DISEASE; PATHOGENESIS; PRIORITY JOURNAL;

EID: 78651256136     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.732     Document Type: Article
Times cited : (604)

References (39)
  • 1
    • 0346725827 scopus 로고    scopus 로고
    • Revised 2003 consensus on diagnostic criteria and longterm health risks related to polycystic ovary syndrome
    • Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group
    • Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and longterm health risks related to polycystic ovary syndrome. Fertil. Steril. 81, 19-25 (2004).
    • (2004) Fertil. Steril. , vol.81 , pp. 19-25
  • 2
    • 33744917014 scopus 로고    scopus 로고
    • Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome
    • DOI 10.1016/j.beem.2006.02.005, PII S1521690X06000224
    • Goodarzi, M.O. & Azziz, R. Diagnosis, epidemiology, and genetics of the polycystic ovary syndrome. Best Pract. Res. Clin. Endocrinol. Metab. 20, 193-205 (2006). (Pubitemid 43842923)
    • (2006) Best Practice and Research: Clinical Endocrinology and Metabolism , vol.20 , Issue.2 , pp. 193-205
    • Goodarzi, M.O.1    Azziz, R.2
  • 3
    • 0344286476 scopus 로고    scopus 로고
    • Prevalence of impaired glucose tolerance and diabetes in women with polycystic ovary syndrome
    • Ehrmann, D.A., Barnes, R.B., Rosenfeld, R.L., Cavaghan, M.K. & Imperial, J. Prevalence of impaired glucose tolerance and diabetes in women with polycystic ovary syndrome. Diabetes Care 22, 141-146 (1999).
    • (1999) Diabetes Care , vol.22 , pp. 141-146
    • Ehrmann, D.A.1    Barnes, R.B.2    Rosenfeld, R.L.3    Cavaghan, M.K.4    Imperial, J.5
  • 4
    • 73949135129 scopus 로고    scopus 로고
    • Cardiovascular risk and events in polycystic ovary syndrome
    • Carmina, E. Cardiovascular risk and events in polycystic ovary syndrome. Climacteric 12 (suppl. 1), 22-25 (2009).
    • (2009) Climacteric , vol.12 , Issue.SUPPL. 1 , pp. 22-25
    • Carmina, E.1
  • 6
    • 0033851421 scopus 로고    scopus 로고
    • Long-term consequences of polycystic ovary syndrome: Results of a 31 year follow-up study
    • Wild, S., Pierpoint, T., Jacobs, H. & McKeigue, P. Long-term consequences of polycystic ovary syndrome: results of a 31 year follow-up study. Hum. Fertil. (Camb.) 3, 101-105 (2000).
    • (2000) Hum. Fertil. (Camb.) , vol.3 , pp. 101-105
    • Wild, S.1    Pierpoint, T.2    Jacobs, H.3    McKeigue, P.4
  • 7
    • 67651238317 scopus 로고    scopus 로고
    • Prevalence and predictors of abnormal glucose metabolism in Mediterranean women with polycystic ovary syndrome
    • Espinós-Gómez, J.J., Corcoy, R. & Calaf, J. Prevalence and predictors of abnormal glucose metabolism in Mediterranean women with polycystic ovary syndrome. Gynecol. Endocrinol. 25, 199-204 (2009).
    • (2009) Gynecol. Endocrinol. , vol.25 , pp. 199-204
    • Espinós-Gómez, J.J.1    Corcoy, R.2    Calaf, J.3
  • 8
    • 56749104063 scopus 로고    scopus 로고
    • Insulin response to oral glucose in healthy, lean young women and patients with polycystic ovary syndrome
    • Kulshreshtha, B. et al. Insulin response to oral glucose in healthy, lean young women and patients with polycystic ovary syndrome. Gynecol. Endocrinol. 24, 637-643 (2008).
    • (2008) Gynecol. Endocrinol. , vol.24 , pp. 637-643
    • Kulshreshtha, B.1
  • 9
    • 37849036611 scopus 로고    scopus 로고
    • Analysis of clinical characteristics in large-scale Chinese women with polycystic ovary syndrome
    • Shi, Y. et al. Analysis of clinical characteristics in large-scale Chinese women with polycystic ovary syndrome. Neuroendocrinol. Lett. 28, 807-810 (2007).
    • (2007) Neuroendocrinol. Lett. , vol.28 , pp. 807-810
    • Shi, Y.1
  • 10
    • 0036796339 scopus 로고    scopus 로고
    • Genetic and functional analyses of polymorphisms in the human FSH receptor gene
    • Sudo, S. et al. Genetic and functional analyses of polymorphisms in the human FSH receptor gene. Mol. Hum. Reprod. 8, 893-899 (2002).
    • (2002) Mol. Hum. Reprod. , vol.8 , pp. 893-899
    • Sudo, S.1
  • 11
    • 33745501749 scopus 로고    scopus 로고
    • A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome
    • Wang, Y., Wu, X., Cao, Y., Yi, L. & Chen, J. A microsatellite polymorphism (tttta)n in the promoter of the CYP11a gene in Chinese women with polycystic ovary syndrome. Fertil. Steril. 86, 223-226 (2006).
    • (2006) Fertil. Steril. , vol.86 , pp. 223-226
    • Wang, Y.1    Wu, X.2    Cao, Y.3    Yi, L.4    Chen, J.5
  • 12
    • 29244489787 scopus 로고    scopus 로고
    • Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome
    • Chen, Z.J. et al. Correlation between single nucleotide polymorphism of insulin receptor gene with polycystic ovary syndrome. Zhonghua Fu Chan Ke Za Zhi 39, 582-585 (2004).
    • (2004) Zhonghua Fu Chan Ke Za Zhi , vol.39 , pp. 582-585
    • Chen, Z.J.1
  • 13
    • 0036511860 scopus 로고    scopus 로고
    • The -597 G→A and -174 G→C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism
    • Villuendas, G., San Millán, J.L., Sancho, J. & Escobar-Morreale, H.F. The -597 G→A and -174 G→C polymorphisms in the promoter of the IL-6 gene are associated with hyperandrogenism. J. Clin. Endocrinol. Metab. 87, 1134-1141 (2002).
    • (2002) J. Clin. Endocrinol. Metab. , vol.87 , pp. 1134-1141
    • Villuendas, G.1    San Millán, J.L.2    Sancho, J.3    Escobar-Morreale, H.F.4
  • 14
    • 2642583283 scopus 로고    scopus 로고
    • Mapping complex disease loci in whole-genome association studies
    • Carlson, C.S., Eberle, M.A., Kruglyak, L. & Nickerson, D.A. Mapping complex disease loci in whole-genome association studies. Nature 429, 446-452 (2004).
    • (2004) Nature , vol.429 , pp. 446-452
    • Carlson, C.S.1    Eberle, M.A.2    Kruglyak, L.3    Nickerson, D.A.4
  • 15
    • 71449083275 scopus 로고    scopus 로고
    • Genomic dissection of population substructure of Han Chinese and its implication in association studies
    • Xu, S. et al. Genomic dissection of population substructure of Han Chinese and its implication in association studies. Am. J. Hum. Genet. 85, 762-774 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 762-774
    • Xu, S.1
  • 16
    • 33746512512 scopus 로고    scopus 로고
    • Principal components analysis corrects for stratifcation in genome-wide association studies
    • Price, A.L. et al. Principal components analysis corrects for stratifcation in genome-wide association studies. Nat. Genet. 38, 904-909 (2006).
    • (2006) Nat. Genet. , vol.38 , pp. 904-909
    • Price, A.L.1
  • 17
    • 33746664385 scopus 로고    scopus 로고
    • Involvement of ALF in human spermatogenesis and male infertility
    • Huang, M. et al. Involvement of ALF in human spermatogenesis and male infertility. Int. J. Mol. Med. 17, 599-604 (2006).
    • (2006) Int. J. Mol. Med. , vol.17 , pp. 599-604
    • Huang, M.1
  • 18
    • 0032230361 scopus 로고    scopus 로고
    • A 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 receptor
    • Latronico, A.C. et al. A 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 receptor. Mol. Endocrinol. 12, 442-450 (1998).
    • (1998) Mol. Endocrinol. , vol.12 , pp. 442-450
    • Latronico, A.C.1
  • 19
    • 0029843814 scopus 로고    scopus 로고
    • An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female
    • Toledo, S.P.A. et al. An inactivating mutation of the luteinizing hormone receptor causes amenorrhea in a 46, XX female. J. Clin. Endocrinol. Metab. 81, 3850-3854 (1996).
    • (1996) J. Clin. Endocrinol. Metab. , vol.81 , pp. 3850-3854
    • Toledo, S.P.A.1
  • 20
    • 0033748221 scopus 로고    scopus 로고
    • The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes
    • Latronico, A.C., Lins, T.S., Brito, V.N., Arnhold, I.J. & Mendonca, B.B. The effect of distinct activating mutations of the luteinizing hormone receptor gene on the pituitary-gonadal axis in both sexes. Clin. Endocrinol. 53, 609-613 (2000).
    • (2000) Clin. Endocrinol. , vol.53 , pp. 609-613
    • Latronico, A.C.1    Lins, T.S.2    Brito, V.N.3    Arnhold, I.J.4    Mendonca, B.B.5
  • 21
    • 67651083560 scopus 로고    scopus 로고
    • Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome
    • Valkenburg, O. et al. Genetic polymorphisms of GnRH and gonadotrophic hormone receptors affect the phenotype of polycystic ovary syndrome. Hum. Reprod. 24, 2014-2022 (2009).
    • (2009) Hum. Reprod. , vol.24 , pp. 2014-2022
    • Valkenburg, O.1
  • 22
    • 0010965530 scopus 로고    scopus 로고
    • Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome
    • Tong, Y., Liao, W.X., Roy, A.C. & Ng, S.C. Absence of mutations in the coding regions of follicle-stimulating hormone receptor gene in Singapore Chinese women with premature ovarian failure and polycystic ovary syndrome. Horm. Metab. Res. 33, 221-226 (2001).
    • (2001) Horm. Metab. Res. , vol.33 , pp. 221-226
    • Tong, Y.1    Liao, W.X.2    Roy, A.C.3    Ng, S.C.4
  • 23
    • 77953019731 scopus 로고    scopus 로고
    • Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome
    • Du, J. et al. Two FSHR variants, haplotypes and meta-analysis in Chinese women with premature ovarian failure and polycystic ovary syndrome. Mol. Genet. Metab. 100, 292-295 (2010).
    • (2010) Mol. Genet. Metab. , vol.100 , pp. 292-295
    • Du, J.1
  • 24
    • 33845249747 scopus 로고    scopus 로고
    • Evidence for a 3p25 breakpoint hot spot region in thyroid tumors of follicular origin
    • Drieschner, N. et al. Evidence for a 3p25 breakpoint hot spot region in thyroid tumors of follicular origin. Thyroid 16, 1091-1096 (2006).
    • (2006) Thyroid , vol.16 , pp. 1091-1096
    • Drieschner, N.1
  • 25
    • 42349106044 scopus 로고    scopus 로고
    • Meta-analysis of genome-wide association data and large-scale replication identifes additional susceptibility loci for type 2 diabetes
    • Zeggini, E. et al. Meta-analysis of genome-wide association data and large-scale replication identifes additional susceptibility loci for type 2 diabetes. Nat. Genet. 40, 638-645 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 638-645
    • Zeggini, E.1
  • 26
    • 70449433016 scopus 로고    scopus 로고
    • PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population
    • Hu, C. et al. PPARG, KCNJ11, CDKAL1, CDKN2A-CDKN2B, IDE-KIF11-HHEX, IGF2BP2 and SLC30A8 are associated with type 2 diabetes in a Chinese population. PLoS ONE 4, e7643 (2009).
    • (2009) PLoS ONE , vol.4
    • Hu, C.1
  • 27
    • 1642570212 scopus 로고    scopus 로고
    • Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons
    • Del Villar, K. & Miller, C.A. Down-regulation of DENN/MADD, a TNF receptor binding protein, correlates with neuronal cell death in Alzheimer's disease brain and hippocampal neurons. Proc. Natl. Acad. Sci. USA 101, 4210-4215 (2004).
    • (2004) Proc. Natl. Acad. Sci. USA , vol.101 , pp. 4210-4215
    • Del Villar, K.1    Miller, C.A.2
  • 28
    • 34447520579 scopus 로고    scopus 로고
    • Is the polycystic ovary syndrome associated with chronic infammation per se?
    • Olszanecka-Glinianowicz, M. et al. Is the polycystic ovary syndrome associated with chronic infammation per se? Eur. J. Obstet. Gynecol. Reprod. Biol. 133, 197-202 (2007).
    • (2007) Eur. J. Obstet. Gynecol. Reprod. Biol. , vol.133 , pp. 197-202
    • Olszanecka-Glinianowicz, M.1
  • 29
    • 12644305063 scopus 로고
    • Clinical assessment of body hair growth in women
    • Ferriman, D. & Gallwey, J.D. Clinical assessment of body hair growth in women. J. Clin. Endocrinol. Metab. 21, 1440-1447 (1961).
    • (1961) J. Clin. Endocrinol. Metab. , vol.21 , pp. 1440-1447
    • Ferriman, D.1    Gallwey, J.D.2
  • 30
    • 52949146816 scopus 로고    scopus 로고
    • Clinical and metabolic characteristics of polycystic ovary syndrome without polycystic ovary: A pilot study on Chinese women
    • Shi, Y., Gao, X., Sun, X., Zhang, P. & Chen, Z. Clinical and metabolic characteristics of polycystic ovary syndrome without polycystic ovary: a pilot study on Chinese women. Fertil. Steril. 90, 1139-1143 (2008).
    • (2008) Fertil. Steril. , vol.90 , pp. 1139-1143
    • Shi, Y.1    Gao, X.2    Sun, X.3    Zhang, P.4    Chen, Z.5
  • 31
    • 0034485313 scopus 로고    scopus 로고
    • Insulin sensitivity and its measurement: Structural commonalities among the methods
    • Radziuk, J. Insulin sensitivity and its measurement: structural commonalities among the methods. J. Clin. Endocrinol. Metab. 85, 4426-4433 (2000).
    • (2000) J. Clin. Endocrinol. Metab. , vol.85 , pp. 4426-4433
    • Radziuk, J.1
  • 32
    • 52949085789 scopus 로고    scopus 로고
    • Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs
    • Korn, J.M. et al. Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat. Genet. 40, 1253-1260 (2008).
    • (2008) Nat. Genet. , vol.40 , pp. 1253-1260
    • Korn, J.M.1
  • 33
    • 3042772974 scopus 로고    scopus 로고
    • Capillary and microelectrophoretic separations of ligase detection reaction products produced from low-abundant point mutations in genomic DNA
    • Thomas, G. et al. Capillary and microelectrophoretic separations of ligase detection reaction products produced from low-abundant point mutations in genomic DNA. Electrophoresis 25, 1668-1677 (2004).
    • (2004) Electrophoresis , vol.25 , pp. 1668-1677
    • Thomas, G.1
  • 34
    • 61449225648 scopus 로고    scopus 로고
    • PCR/LDR/capillary electrophoresis for detection of single-nucleotide differences between fetal and maternal DNA in maternal plasma
    • Yi, P. et al. PCR/LDR/capillary electrophoresis for detection of single-nucleotide differences between fetal and maternal DNA in maternal plasma. Prenat. Diagn. 29, 217-222 (2009).
    • (2009) Prenat. Diagn. , vol.29 , pp. 217-222
    • Yi, P.1
  • 35
    • 18944381751 scopus 로고    scopus 로고
    • SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci
    • Shi, Y.Y. & He, L. SHEsis, a powerful software platform for analyses of linkage disequilibrium, haplotype construction, and genetic association at polymorphism loci. Cell Res. 15, 97-98 (2005).
    • (2005) Cell Res. , vol.15 , pp. 97-98
    • Shi, Y.Y.1    He, L.2
  • 36
    • 77954223152 scopus 로고    scopus 로고
    • Genome-wide association study in alopecia areata implicates both innate and adaptive immunity
    • Petukhova, L. et al. Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature 466, 113-117 (2010).
    • (2010) Nature , vol.466 , pp. 113-117
    • Petukhova, L.1
  • 37
    • 13444269543 scopus 로고    scopus 로고
    • Haploview: Analysis and visualization of LD and haplotype maps
    • Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics 21, 263 (2005).
    • (2005) Bioinformatics , vol.21 , pp. 263
    • Barrett, J.C.1    Fry, B.2    Maller, J.3    Daly, M.J.4
  • 38
    • 34249888775 scopus 로고    scopus 로고
    • Genome-wide association analysis identifes loci for type 2 diabetes and triglyceride levels
    • Saxena, R. et al. Genome-wide association analysis identifes loci for type 2 diabetes and triglyceride levels. Science 316, 1331-1336 (2007).
    • (2007) Science , vol.316 , pp. 1331-1336
    • Saxena, R.1
  • 39
    • 84959801619 scopus 로고
    • Statistical aspects of the analysis of data from retrospective studies
    • Mantel, N. & Haenszel, W. Statistical aspects of the analysis of data from retrospective studies. J. Natl. Cancer Inst. 22, 719-748 (1959).
    • (1959) J. Natl. Cancer Inst. , vol.22 , pp. 719-748
    • Mantel, N.1    Haenszel, W.2


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