Genome-wide association studies identify loci associated with age at menarche and age at natural menopause

被引：288

作者：

He, Chunyan ^{[1
,2
]}

Kraft, Peter ^{[1
,2
]}

Chen, Constance ^{[1
,2
]}

Buring, Julie E. ^{[2
,3
,4
]}

Pare, Guillaume ^{[3
,4
,5
]}

Hankinson, Susan E. ^{[2
,6
]}

Chanock, Stephen J. ^{[7
]}

Ridker, Paul M. ^{[2
,3
,4
,5
]}

Hunter, David J. ^{[1
,2
,6
,7
,8
]}

Chasman, Daniel I. ^{[3
,4
,5
]}

机构：

[1] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA

[3] Harvard Univ, Sch Med, Donald W Reynolds Ctr Cardiovasc Res, Boston, MA 02115 USA

[4] Harvard Univ, Sch Med, Div Prevent Med, Boston, MA 02115 USA

[5] Harvard Univ, Sch Med, Brigham & Womens Hosp, Ctr Cardiovasc Dis Prevent, Boston, MA 02115 USA

[6] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Med,Channing Lab, Boston, MA 02115 USA

[7] NCI, Div Canc Epidemiol & Genet, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA

[8] Harvard & MIT, Broad Inst, Program Med & Populat Genet, Cambridge, MA USA

来源：

NATURE GENETICS | 2009年 / 41卷 / 06期

关键词：

QUANTITATIVE TRAIT LOCI; REPRODUCTIVE FACTORS; LINKAGE ANALYSIS; BREAST-CANCER; SCAN; RISK; REPLICATION; PROTEIN; GENES; TWIN;

D O I：

10.1038/ng.385

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Age at menarche and age at natural menopause are associated with causes of substantial morbidity and mortality such as breast cancer and cardiovascular disease. We conducted a joint analysis of two genome-wide association studies of these two traits in a total of 17,438 women from the Nurses' Health Study (NHS, N = 2,287) and the Women's Genome Health Study (WGHS, N = 15,151). For age at menarche, we identified ten associated SNPs (P = 1 x 10(-7)-3 x 10(-13)) clustered at 6q21 (in or near the gene LIN28B) and 9q31.2 (in an intergenic region). For age at natural menopause, we identified 13 associated SNPs (P = 1 x 10(-7)-1 x 10(-21)) clustered at 20p12.3 (in the gene MCM8), 19q13.42 (in or near the gene BRSK1), 5q35.2 (in or near genes UIMC1 and HK3) and 6p24.2 (in the gene SYCP2L). These newly identified loci might expand understanding of the biological pathways regulating these two traits.

引用

页码：724 / 728

页数：5

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