The genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis

被引：25

作者：

Fernandez-Rhodes, Lindsay ^{[1
,2
]}

Malinowski, Jennifer R. ^{[3
]}

Wang, Yujie ^{[1
]}

Tao, Ran ^{[4
]}

Pankratz, Nathan ^{[5
]}

Jeff, Janina M. ^{[6
]}

Yoneyama, Sachiko ^{[1
]}

Carty, Cara L. ^{[7
]}

Setiawan, V. Wendy ^{[8
]}

Le Marchand, Loic ^{[9
]}

Haiman, Christopher ^{[8
]}

Corbett, Steven ^{[10
]}

Demerath, Ellen ^{[11
]}

Heiss, Gerardo ^{[1
]}

Gross, Myron ^{[5
]}

Buzkova, Petra ^{[12
]}

Crawford, Dana C. ^{[13
]}

Hunt, Steven C. ^{[14
]}

Rao, D. C. ^{[15
]}

Schwander, Karen ^{[15
]}

Chakravarti, Aravinda ^{[16
]}

Gottesman, Omri ^{[17
]}

Abul-Husn, Noura S. ^{[18
]}

Bottinger, Erwin P. ^{[18
]}

Loos, Ruth J. F. ^{[18
]}

Raffel, Leslie J. ^{[19
]}

Yao, Jie ^{[20
,21
]}

Guo, Xiuqing ^{[20
,21
]}

Bielinski, Suzette J. ^{[22
]}

Rotter, Jerome I. ^{[20
,21
]}

Vaidya, Dhananjay ^{[23
]}

Chen, Yii-Der Ida ^{[20
,21
]}

Castaneda, Sheila F. ^{[24
]}

Daviglus, Martha ^{[25
]}

Kaplan, Robert ^{[26
]}

Talavera, Gregory A. ^{[24
]}

Ryckman, Kelli K. ^{[27
,28
]}

Peters, Ulrike ^{[7
]}

Ambite, Jose Luis ^{[29
]}

Buyske, Steven ^{[30
]}

Hindorff, Lucia ^{[31
]}

Kooperberg, Charles ^{[7
]}

Matise, Tara

Franceschini, Nora ^{[1
]}

North, Kari E. ^{[1
]}

机构：

[1] Univ North Carolina Chapel Hill, Dept Epidemiol, Chapel Hill, NC USA

[2] Univ North Carolina Chapel Hill, Carolina Populat Ctr, Chapel Hill, NC USA

[3] Write InSciTe LLC, Hebron, CT USA

[4] Vanderbilt Univ, Med Ctr, Dept Biostat, Nashville, TN USA

[5] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[6] Illumina Inc, Genotyping Arrays Div, San Diego, CA USA

[7] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA

[8] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Norris Comprehens Canc Ctr, Los Angeles, CA USA

[9] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI USA

[10] Kansas Hlth Inst, Topeka, KS USA

[11] Univ Minnesota, Div Epidemiol & Community Hlth, Minneapolis, MN USA

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

[13] Case Western Reserve Univ, Dept Epidemiol & Biostat, Inst Computat Biol, Cleveland, OH 44106 USA

[14] Weill Cornell Med Coll Qatar, Dept Genet Med, Doha, Qatar

[15] Washington Univ, Div Biostat, St Louis, MO USA

[16] Johns Hopkins Univ, McKusick Nathans Inst Genet Med, Ctr Complex Dis Genom, Baltimore, MD USA

[17] Icahn Sch Med Mt Sinai, Div Gen Internal Med, New York, NY 10029 USA

[18] Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY 10029 USA

[19] Univ Calif Irvine, Div Genet & Genom Med, Irvine, CA USA

[20] Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA 90509 USA

[21] Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA

[22] Mayo Clin, Coll Med, Rochester, MN USA

[23] Johns Hopkins Univ, Dept Med, Baltimore, MD USA

[24] San Diego State Univ, Grad Sch Publ Hlth, South Bay Latino Res Ctr, San Diego, CA 92182 USA

[25] Univ Illinois, Inst Minor Hlth Res, Chicago, IL USA

[26] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA

[27] Univ Iowa, Dept Epidemiol, Iowa City, IA USA

[28] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[29] Univ Southern Calif, Inst Informat Sci, Marina Del Rey, CA USA

[30] Rutgers State Univ, Dept Genet, Piscataway, NJ USA

[31] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA

来源：

PLOS ONE | 2018年 / 13卷 / 07期

基金：

美国国家卫生研究院; 美国国家环境保护局;

关键词：

AFRICAN-AMERICAN WOMEN; WIDE ASSOCIATION; GENOMEWIDE ASSOCIATION; ADOLESCENT GIRLS; COMPLEX TRAITS; DNA-REPAIR; BODY-MASS; LOCI; VARIANTS; HEALTH;

D O I：

10.1371/journal.pone.0200486

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

Current knowledge of the genetic architecture of key reproductive events across the female life course is largely based on association studies of European descent women. The relevance of known loci for age at menarche (AAM) and age at natural menopause (ANM) in diverse populations remains unclear. We investigated 32 AAM and 14 ANM previously-identified loci and sought to identify novel loci in a trans-ethnic array-wide study of 196,483 SNPs on the MetaboChip (Illumina, Inc.). A total of 45,364 women of diverse ancestries (African, Hispanic/Latina, Asian American and American Indian/Alaskan Native) in the Population Architecture using Genomics and Epidemiology (PAGE) Study were included in cross-sectional analyses of AAM and ANM. Within each study we conducted a linear regression of SNP associations with self-reported or medical record-derived AAM or ANM (in years), adjusting for birth year, population stratification, and center/region, as appropriate, and meta-analyzed results across studies using multiple meta-analytic techniques. For both AAM and ANM, we observed more directionally consistent associations with the previously reported risk alleles than expected by chance (p-values(binomial)<= 0.01). Eight densely genotyped reproductive loci generalized significantly to at least one non-European population. We identified one trans-ethnic array-wide SNP association with AAM and two significant associations with ANM, which have not been described previously. Additionally, we observed evidence of independent secondary signals at three of six AAM trans-ethnic loci. Our findings support the transferability of reproductive trait loci discovered in European women to women of other race/ethnicities and indicate the presence of additional transethnic associations both at both novel and established loci. These findings suggest the benefit of including diverse populations in future studies of the genetic architecture of female growth and development.

引用

页数：21

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