Association study of the oestrogen signalling pathway genes in relation to age at natural menopause
Association study of the oestrogen signalling pathway genes in relation to age at natural menopause
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DOI：
10.1007/s12041-007-0034-7
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发表时间：
2007-12-01
影响因子：
1.5
通讯作者：
Deng, Hong-Wen
中科院分区：
文献类型：
--
作者：
He, Li-Na;Xiong, Dong-Hai;Deng, Hong-Wen
遗传因素在影响自然绝经年龄变异中起重要作用。雌激素受体β（ESR 2）是雌激素作用机制中的重要因子，而芳香化酶基因（CYP 19）和17-α-羟化酶基因（CYP 17）参与雌激素的生物合成。我们检测了ESR 2、CYP 19和CYP 17基因多态性是否与高加索女性AANM相关。共有52个SNPs（17个ESR 2，28个CYP 19和7个CYP 17）成功地对229名经历过自然绝经的高加索妇女进行了基因分型。对这些基因与AANM的关联进行了全面的统计分析。在进行关联分析时，调整了年龄、身高和初潮年龄对AANM的影响。我们发现ESR 2内的6个SNPs（2，6-7，9，13和16）在Bonferroni校正后与AANM无显著相关。然而，两个阻滞的ESR 2与AANM相关。对于CYP 19，两个SNP（24和27）与AANM名义上相关。CYP 17与AANM之间未观察到显著关联。我们的研究结果表明，ESR 2和CYP 19基因的遗传变异可能会影响高加索妇女AANM的变异。
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.