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PMID: 18305346 Published · ppublish English Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Association study of the oestrogen signalling pathway genes in relation to age at natural menopause.

Journal of genetics ·Vol. 86 ·No. 3 ·2007-12-00 ·Pages 269-76

He LN, Xiong DH, Liu YJ, Zhang F, Recker RR, Deng HW

Abstract

Genetic factors play a significant role in influencing the variation of age at natural menopause (AANM). Estrogen receptor beta (ESR2), is an important factor in the mechanism of action of estrogen, while the aromatase gene (CYP19) and the 17-alpha-hydroxylase gene (CYP17) are involved in the biosynthesis of estrogen. We tested whether polymorphisms of ESR2, CYP19 and CYP17 genes are associated with AANM in Caucasian females. A total of 52 SNPs (17 for ESR2, 28 for CYP19, and 7 for CYP17) were successfully genotyped for 229 Caucasian women having experienced natural menopause. Comprehensive statistical analyses focusing on the association of these genes with AANM were conducted. The effects of age, height and age at menarche on AANM were adjusted when conducting association analyses. We found that six SNPs (2, 6-7, 9, 13 and 16) within ESR2 were not significantly associated with AANM after Bonferroni correction. However, two blocks of ESR2 were associated with AANM. For CYP19, two SNPs (24 and 27) were nominally associated with AANM. No significant association was observed between CYP17 and AANM. Our results suggest that genetic variation in the ESR2 and CYP19 genes may influence the variation in AANM in Caucasian women.

MeSH Terms
Age Factors Aromatase/genetics Base Sequence Estrogen Receptor beta/genetics Estrogens/metabolism Female Humans Linkage Disequilibrium Menopause/genetics,metabolism Middle Aged Polymorphism, Single Nucleotide Signal Transduction/genetics Steroid 17-alpha-Hydroxylase/genetics
Chemicals
Estrogen Receptor beta Estrogens Aromatase Steroid 17-alpha-Hydroxylase
Authors & Affiliations
6 authors, click to expand affiliations / ORCID
He Li-Na
The Key Laboratory of Biomedical Information Engineering of Ministry of Education and Institute of Molecular Genetics, School of Life Science and Technology, Xi'an Jiaotong University, Xi'an 710049, China.
Xiong Dong-Hai
Liu Yong-Jun
Zhang Feng
Recker Robert R
Deng Hong-Wen
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Article Info
Journal
Journal of genetics
Abbr.
J Genet
ISSN
0022-1333
Published
2007-12-00
Pages
269-76
Language
English
Region
India
NLM ID
2985113R
Subset
IM
Grants
NIAMS NIH HHS · K01 AR 02170-01 · United States
NIAMS NIH HHS · R01 AR 050496 · United States
NIAMS NIH HHS · R01 AR 45349-01 · United States
NIGMS NIH HHS · R01 GM 60402-01A1 · United States
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