Genome-wide association study of age at menarche in African-American women

被引：42

作者：

Demerath, Ellen W. ^{[1
]}

Liu, Ching-Ti ^{[2
]}

Franceschini, Nora ^{[4
]}

Chen, Gary ^{[7
]}

Palmer, Julie R. ^{[3
]}

Smith, Erin N. ^{[9
]}

Chen, Christina T. L. ^{[11
]}

Ambrosone, Christine B. ^{[12
]}

Arnold, Alice M. ^{[13
]}

Bandera, Elisa V. ^{[15
]}

Berenson, Gerald S. ^{[16
]}

Bernstein, Leslie ^{[17
]}

Britton, Angela ^{[18
]}

Cappola, Anne R. ^{[19
]}

Carlson, Christopher S. ^{[11
]}

Chanock, Stephen J. ^{[21
]}

Chen, Wei ^{[16
]}

Chen, Zhao ^{[23
]}

Deming, Sandra L. ^{[24
,25
]}

Elks, Cathy E.

Evans, Michelle K. ^{[20
]}

Gajdos, Zofia

Henderson, Brian E. ^{[7
]}

Hu, Jennifer J.

Ingles, Sue ^{[7
]}

John, Esther M.

Kerr, Kathleen F. ^{[13
]}

Kolonel, Laurence N.

Le Marchand, Loic

Lu, Xiaoning ^{[2
]}

Millikan, Robert C. ^{[4
]}

Musani, Solomon K.

Nock, Nora L.

North, Kari ^{[5
,6
]}

Nyante, Sarah ^{[21
]}

Press, Michael F. ^{[8
]}

Rodriquez-Gil, Jorge L.

Ruiz-Narvaez, Edward A. ^{[3
]}

Schork, Nicholas J.

Srinivasan, Sathanur R. ^{[16
]}

Woods, Nancy F. ^{[14
]}

Zheng, Wei ^{[24
,25
]}

Ziegler, Regina G. ^{[22
]}

Zonderman, Alan

Heiss, Gerardo ^{[4
]}

Windham, B. Gwen

Wellons, Melissa

Murray, Sarah S. ^{[10
]}

Nalls, Michael ^{[18
]}

Pastinen, Tomi

机构：

[1] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN USA

[2] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA

[3] Boston Univ, Slone Epidemiol Ctr, Boston, MA 02215 USA

[4] Univ N Carolina, Dept Epidemiol, Gillings Sch Publ Hlth, Chapel Hill, NC USA

[5] Univ N Carolina, Dept Epidemiol, Chapel Hill, NC USA

[6] Univ N Carolina, Carolina Ctr Genome Sci, Chapel Hill, NC USA

[7] Univ So Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA

[8] Univ So Calif, Keck Sch Med, Dept Pathol, Los Angeles, CA 90033 USA

[9] Univ Calif San Diego, Div Genome Informat Sci, Dept Pediat, La Jolla, CA 92093 USA

[10] Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA

[11] Fred Hutchinson Canc Res Ctr, Seattle, WA 98104 USA

[12] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA

[13] Univ Washington, Sch Publ Hlth, Dept Biostat, Seattle, WA 98195 USA

[14] Univ Washington, Sch Nursing, Seattle, WA 98195 USA

[15] Canc Inst New Jersey, New Brunswick, NJ USA

[16] Tulane Univ, Sch Publ Hlth & Trop Med, Dept Epidemiol, New Orleans, LA USA

[17] Beckman Res Inst, Dept Populat Sci, Div Canc Etiol, Duarte, CA USA

[18] NIH, Natl Inst Aging, Neurogenet Lab, Bethesda, MD 20892 USA

[19] Univ Penn, Perelman Sch Med, Div Endocrinol Diabet & Metab, Philadelphia, PA 19104 USA

[20] NIH, Natl Inst Aging, Clin Res Branch, Hlth Disparaties Res Sect, Baltimore, MD USA

[21] NIH, NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA

[22] NCI, Div Canc Epidemiol & Genet, Epidemiol & Biostat Program, Bethesda, MD 20892 USA

[23] Univ Arizona, Coll Publ Hlth, Tucson, AZ 85721 USA

[24] Vanderbilt Epidemiol Ctr, Dept Med, Div Epidemiol, Nashville, TN USA

[25] Vandebilt Ingram Canc Ctr, Nashville, TN USA

来源：

HUMAN MOLECULAR GENETICS | 2013年 / 22卷 / 16期

基金：

美国国家卫生研究院;

关键词：

NUTRITION EXAMINATION SURVEY; BREAST-CANCER; SEQUENCE VARIANTS; GENETIC-VARIATION; NATIONAL-HEALTH; BODY-SIZE; US GIRLS; LOCI; METAANALYSIS; POPULATION;

D O I：

10.1093/hmg/ddt181

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

African-American (AA) women have earlier menarche on average than women of European ancestry (EA), and earlier menarche is a risk factor for obesity and type 2 diabetes among other chronic diseases. Identification of common genetic variants associated with age at menarche has a potential value in pointing to the genetic pathways underlying chronic disease risk, yet comprehensive genome-wide studies of age at menarche are lacking for AA women. In this study, we tested the genome-wide association of self-reported age at menarche with common single-nucleotide polymorphisms (SNPs) in a total of 18 089 AA women in 15 studies using an additive genetic linear regression model, adjusting for year of birth and population stratification, followed by inverse-variance weighted meta-analysis (Stage 1). Top meta-analysis results were then tested in an independent sample of 2850 women (Stage 2). First, while no SNP passed the pre-specified P 5 10(8) threshold for significance in Stage 1, suggestive associations were found for variants near FLRT2 and PIK3R1, and conditional analysis identified two independent SNPs (rs339978 and rs980000) in or near RORA, strengthening the support for this suggestive locus identified in EA women. Secondly, an investigation of SNPs in 42 previously identified menarche loci in EA women demonstrated that 25 (60) of them contained variants significantly associated with menarche in AA women. The findings provide the first evidence of cross-ethnic generalization of menarche loci identified to date, and suggest a number of novel biological links to menarche timing in AA women.

引用

页码：3329 / 3346

页数：18

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