Progress in genome-wide association studies of age at natural menopause

被引:7
作者
Xu, Che [1 ]
Ruan, Xiangyan [1 ,2 ,3 ]
Mueck, Alfred O. [1 ,2 ,3 ]
机构
[1] Capital Med Univ, Beijing Obstet & Gynecol Hosp, Beijing Maternal & Child Hlth Care Hosp, Dept Gynecol Endocrinol, Beijing, Peoples R China
[2] Univ Tubingen, Univ Womens Hosp, Tubingen, Germany
[3] Univ Tubingen, Res Ctr Womens Hlth, Dept Womens Hlth, Tubingen, Germany
基金
北京市自然科学基金;
关键词
Age at natural menopause; DNA damage repair; Epidemiology; Genome-wide association study; Menopause; Trans-ethnic; PRIMARY OVARIAN INSUFFICIENCY; ESTROGEN-RECEPTOR-ALPHA; MENARCHE; LOCI; GENE; POLYMORPHISMS; VARIANTS; REPAIR; WOMEN; ONSET;
D O I
10.1016/j.rbmo.2022.11.017
中图分类号
R71 [妇产科学];
学科分类号
100211 ;
摘要
Menopause is not only the end of reproductive life, it is also related to diseases such as hyperlipidaemia, atherosclerotic cardiovascular disease, osteoporosis and breast cancer. Traditional epidemiological studies have found that heredity is the main determinant of age at natural menopause (ANM). Early studies on genetic factors were limited to candidate gene studies. Menopause age is not inherited by a single gene, but is the result of multiple gene effects. With the development of genomic technology, the Reproductive Genetics Consortium conducted several genome-wide association studies on ANM in people of European descent, and found that defects in DNA damage repair pathways were the main genetic mechanism. In recent years, due to the ethnic heterogeneity of ANM, there has been further development of global studies into multi-ethnic and trans-ethnic genome-wide association studies. Further genetic and epidemiological studies, including polygenetic score and genetic mechanism research, should be conducted to investigate the pathogenesis and mechanism with respect to menopause and its related diseases.
引用
收藏
页码:607 / 622
页数:16
相关论文
共 49 条
[1]   Demographic, clinical and hormonal characteristics of patients with premature ovarian insufficiency and those of early menopause: data from two tertiary premature ovarian insufficiency centers in Greece [J].
Bompoula, Maria Sotiria ;
Valsamakis, Georgios ;
Neofytou, Spyridoula ;
Messaropoulos, Pantelis ;
Salakos, Nikolaos ;
Mastorakos, George ;
Kalantaridou, Sophia N. .
GYNECOLOGICAL ENDOCRINOLOGY, 2020, 36 (08) :693-697
[2]   The UK Biobank resource with deep phenotyping and genomic data [J].
Bycroft, Clare ;
Freeman, Colin ;
Petkova, Desislava ;
Band, Gavin ;
Elliott, Lloyd T. ;
Sharp, Kevin ;
Motyer, Allan ;
Vukcevic, Damjan ;
Delaneau, Olivier ;
O'Connell, Jared ;
Cortes, Adrian ;
Welsh, Samantha ;
Young, Alan ;
Effingham, Mark ;
McVean, Gil ;
Leslie, Stephen ;
Allen, Naomi ;
Donnelly, Peter ;
Marchini, Jonathan .
NATURE, 2018, 562 (7726) :203-+
[3]   Replication of genetic loci for ages at menarche and menopause in the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) study [J].
Carty, C. L. ;
Spencer, K. L. ;
Setiawan, V. W. ;
Fernandez-Rhodes, L. ;
Malinowski, J. ;
Buyske, S. ;
Young, A. ;
Jorgensen, N. W. ;
Cheng, I. ;
Carlson, C. S. ;
Brown-Gentry, K. ;
Goodloe, R. ;
Park, A. ;
Parikh, N. I. ;
Henderson, B. ;
Le Marchand, L. ;
Wactawski-Wende, J. ;
Fornage, M. ;
Matise, T. C. ;
Hindorff, L. A. ;
Arnold, A. M. ;
Haiman, C. A. ;
Franceschini, N. ;
Peters, U. ;
Crawford, D. C. .
HUMAN REPRODUCTION, 2013, 28 (06) :1695-1706
[4]  
Channing C P, 1980, Int Rev Physiol, V22, P117
[5]  
COULAM CB, 1986, OBSTET GYNECOL, V67, P604
[6]   Genetically Determined Reproductive Aging and Coronary Heart Disease: A Bidirectional 2-sample Mendelian Randomization [J].
Dam, Veerle ;
Onland-Moret, N. Charlotte ;
Burgess, Stephen ;
Chirlaque, Maria-Dolores ;
Peters, Sanne A. E. ;
Schuit, Ewoud ;
Tikk, Kaja ;
Weiderpass, Elisabete ;
Oliver-Williams, Clare ;
Wood, Angela M. ;
Tjonneland, Anne ;
Dahm, Christina C. ;
Overvad, Kim ;
Boutron-Ruault, Marie-Christine ;
Schulze, Matthias B. ;
Trichopoulou, Antonia ;
Ferrari, Pietro ;
Masala, Giovanna ;
Krogh, Vittorio ;
Tumino, Rosario ;
Matullo, Giuseppe ;
Panico, Salvatore ;
Boer, Jolanda M. A. ;
Verschuren, W. M. Monique ;
Waaseth, Marit ;
Sanchez Perez, Maria Jose ;
Amiano, Pilar ;
Imaz, Liher ;
Moreno-Iribas, Conchi ;
Melander, Olle ;
Harlid, Sophia ;
Nordendahl, Maria ;
Wennberg, Patrik ;
Key, Timothy J. ;
Riboli, Elio ;
Santiuste, Carmen ;
Kaaks, Rudolf ;
Katzke, Verena ;
Langenberg, Claudia ;
Wareham, Nicholas J. ;
Schunkert, Heribert ;
Erdmann, Jeanette ;
Willenborg, Christina ;
Hengstenberg, Christian ;
Kleber, Marcus E. ;
Delgado, Graciela ;
Marz, Winfried ;
Kanoni, Stavroula ;
Dedoussis, George ;
Deloukas, Panos .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2022, 107 (07) :E2952-E2961
[7]   Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair [J].
Day, Felix R. ;
Ruth, Katherine S. ;
Thompson, Deborah J. ;
Lunetta, Kathryn L. ;
Pervjakova, Natalia ;
Chasman, Daniel I. ;
Stolk, Lisette ;
Finucane, Hilary K. ;
Sulem, Patrick ;
Bulik-Sullivan, Brendan ;
Esko, Tonu ;
Johnson, Andrew D. ;
Elks, Cathy E. ;
Franceschini, Nora ;
He, Chunyan ;
Altmaier, Elisabeth ;
Brody, Jennifer A. ;
Franke, Lude L. ;
Huffman, Jennifer E. ;
Keller, Margaux F. ;
McArdle, Patrick F. ;
Nutile, Teresa ;
Porcu, Eleonora ;
Robino, Antonietta ;
Rose, Lynda M. ;
Schick, Ursula M. ;
Smith, Jennifer A. ;
Teumer, Alexander ;
Traglia, Michela ;
Vuckovic, Dragana ;
Yao, Jie ;
Zhao, Wei ;
Albrecht, Eva ;
Amin, Najaf ;
Corre, Tanguy ;
Hottenga, Jouke-Jan ;
Mangino, Massimo ;
Smith, Albert V. ;
Tanaka, Toshiko ;
Abecasis, Goncalo R. ;
Andrulis, Irene L. ;
Anton-Culver, Hoda ;
Antoniou, Antonis C. ;
Arndt, Volker ;
Arnold, Alice M. ;
Barbieri, Caterina ;
Beckmann, Matthias W. ;
Beeghly-Fadiel, Alicia ;
Benitez, Javier ;
Bernstein, Leslie .
NATURE GENETICS, 2015, 47 (11) :1294-+
[8]   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 [J].
Fernandez-Rhodes, Lindsay ;
Malinowski, Jennifer R. ;
Wang, Yujie ;
Tao, Ran ;
Pankratz, Nathan ;
Jeff, Janina M. ;
Yoneyama, Sachiko ;
Carty, Cara L. ;
Setiawan, V. Wendy ;
Le Marchand, Loic ;
Haiman, Christopher ;
Corbett, Steven ;
Demerath, Ellen ;
Heiss, Gerardo ;
Gross, Myron ;
Buzkova, Petra ;
Crawford, Dana C. ;
Hunt, Steven C. ;
Rao, D. C. ;
Schwander, Karen ;
Chakravarti, Aravinda ;
Gottesman, Omri ;
Abul-Husn, Noura S. ;
Bottinger, Erwin P. ;
Loos, Ruth J. F. ;
Raffel, Leslie J. ;
Yao, Jie ;
Guo, Xiuqing ;
Bielinski, Suzette J. ;
Rotter, Jerome I. ;
Vaidya, Dhananjay ;
Chen, Yii-Der Ida ;
Castaneda, Sheila F. ;
Daviglus, Martha ;
Kaplan, Robert ;
Talavera, Gregory A. ;
Ryckman, Kelli K. ;
Peters, Ulrike ;
Ambite, Jose Luis ;
Buyske, Steven ;
Hindorff, Lucia ;
Kooperberg, Charles ;
Matise, Tara ;
Franceschini, Nora ;
North, Kari E. .
PLOS ONE, 2018, 13 (07)
[9]   A second generation human haplotype map of over 3.1 million SNPs [J].
Frazer, Kelly A. ;
Ballinger, Dennis G. ;
Cox, David R. ;
Hinds, David A. ;
Stuve, Laura L. ;
Gibbs, Richard A. ;
Belmont, John W. ;
Boudreau, Andrew ;
Hardenbol, Paul ;
Leal, Suzanne M. ;
Pasternak, Shiran ;
Wheeler, David A. ;
Willis, Thomas D. ;
Yu, Fuli ;
Yang, Huanming ;
Zeng, Changqing ;
Gao, Yang ;
Hu, Haoran ;
Hu, Weitao ;
Li, Chaohua ;
Lin, Wei ;
Liu, Siqi ;
Pan, Hao ;
Tang, Xiaoli ;
Wang, Jian ;
Wang, Wei ;
Yu, Jun ;
Zhang, Bo ;
Zhang, Qingrun ;
Zhao, Hongbin ;
Zhao, Hui ;
Zhou, Jun ;
Gabriel, Stacey B. ;
Barry, Rachel ;
Blumenstiel, Brendan ;
Camargo, Amy ;
Defelice, Matthew ;
Faggart, Maura ;
Goyette, Mary ;
Gupta, Supriya ;
Moore, Jamie ;
Nguyen, Huy ;
Onofrio, Robert C. ;
Parkin, Melissa ;
Roy, Jessica ;
Stahl, Erich ;
Winchester, Ellen ;
Ziaugra, Liuda ;
Altshuler, David ;
Shen, Yan .
NATURE, 2007, 449 (7164) :851-U3
[10]   Estrogen-metabolizing gene polymorphisms, but not estrogen receptor-α gene polymorphisms, are associated with the onset of menarche in healthy postmenopausal Japanese women [J].
Gorai, I ;
Tanaka, K ;
Inada, M ;
Morinaga, H ;
Uchiyama, Y ;
Kikuchi, R ;
Chaki, O ;
Hirahara, F .
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2003, 88 (02) :799-803