Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review
. 2012 Jan 17:7:5.
doi: 10.1186/1750-1172-7-5.

ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

Yingying Qin  1 , Mei Sun, Li You, Deying Wei, Jielin Sun, Xiaoyan Liang, Bo Zhang, Hong Jiang, Jianfeng Xu, Zi-Jiang Chen
Affiliations
Review

ESR1, HK3 and BRSK1 gene variants are associated with both age at natural menopause and premature ovarian failure

Yingying Qin et al. Orphanet J Rare Dis. .

Abstract

Background: Premature ovarian failure (POF) is a complex and heterogeneous disorder that is influenced by multiple genetic components. Numerous candidate gene studies designed to identify POF susceptibility loci have been published, but most positive findings have not been confirmed in follow up studies. We sought to determine if sequence variants previously associated with age at natural menopause (AANM) or early menopause (EM) contribute as well to genetic susceptibility to POF.

Methods: Our study was performed on 371 unrelated idiopathic women with POF and 800 women controls, all Chinese Han. Thirty six SNPs from previous genome-wide association studies (GWAS) responsible for AANM or EM and 3 additional SNPs in ESR1, and 2 additional SNPs in PTHB1 were tested using the Sequenom MassARRAY iPLEX platform for genotyping.

Results: Three SNPs - rs2278493 in HK3, rs2234693 in ESR1 and rs12611091 in BRSK1 - showed nominally significant association with POF. Thus, a plausible relationship could exist between ESR1, BRSK1, HK3 and POF.

Conclusions: This largest association study undertaken to determine correlation between POF and AANM/EM revealed three significant SNPs (rs2278493, rs2234693, and rs12611091). All are associated with not only AAWM and EM but also POF. Insights into shared genetic susceptibility between POF and AANM/EM will provide novel entry points for unraveling genetic mechanism involved in ovarian reserve and oocyte aging processes.

PubMed Disclaimer

References

    1. Stolk L, Zhai G, van Meurs JB, Verbiest MM, Visser JA, Estrada K, Rivadeneira F, Williams FM, Cherkas L, Deloukas P, Soranzo N, de Keyzer JJ, Pop VJ, Lips P, Lebrun CE, van der Schouw YT, Grobbee DE, Witteman J, Hofman A, Pols HA, Laven JS, Spector TD, Uitterlinden AG. Loci at chromosomes 13, 19 and 20 influence age at natural menopause. Nat Genet. 2009;41:645–647. doi: 10.1038/ng.387. - DOI - PMC - PubMed
    1. Nie GN, Wang XY, Yang HY, Aihua Ou. The investigation and analysis of the factors related with the menopausal age of urban women in China. China maternal and child healthcare (Chinsese) 2011;8:1191–1193.
    1. Chang SH, Kim CS, Lee KS, Kim H, Yim SV, Lim YJ, Park SK. Premenopausal factors influencing premature ovarian failure and early menopause. Maturitas. 2007;58:19–30. doi: 10.1016/j.maturitas.2007.04.001. - DOI - PubMed
    1. De Vos M, Devroey P, Fauser BC. Primary ovarian insufficiency. Lancet. 2010;376:911–921. doi: 10.1016/S0140-6736(10)60355-8. - DOI - PubMed
    1. Nelson LM. Clinical practice. Primary ovarian insufficiency. N Engl J Med. 2009;360:606–614. doi: 10.1056/NEJMcp0808697. - DOI - PMC - PubMed

Publication types

LinkOut - more resources