The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis
The association between androgen receptor gene CAG polymorphism and polycystic ovary syndrome: a case-control study and meta-analysis
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雄激素受体基因CAG多态性与多囊卵巢综合征的关联：病例对照研究及荟萃分析
DOI：
10.1007/s10815-014-0286-0
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发表时间：
2014-09-01
影响因子：
3.1
通讯作者：
Yin, Jie
中科院分区：
文献类型：
--
作者：
Peng, Cui Ying;Xie, Hui Jun;Yin, Jie
目的雄激素受体基因CAG重复序列多态性与多囊卵巢综合征（PCOS）的关系已被大量研究证实，但尚无一致的结果。方法选取224例汉族PCOS患者和223例输卵管因素或男性不育的体外受精-胚胎移植（IVF-ET）不孕患者作为对照组。应用基于PCR的测定对（CAG）nrepeat等位基因进行基因分型。结果PCOS患者CAG双等位基因平均长度为22.65 ± 2.5，对照组为23.09 ± 2.1，P = 0.116;将CAG双等位基因分为两类（平均重复数≤ 22和> 22）时，短AR-CAG双等位基因在PCOS组中的频率明显高于对照组（56.25%vs29.14%，P <0.001）。进一步分析表明，在PCOS患者中，CAG重复序列的平均长度在平均双等位基因长度中较低（22.3 ± 2.5vs.23.9 ± 2.2，P = 0.008）和长双等位基因长度睾酮< 0.7ng/ml组与睾酮< 0.7ng/ml组比较，差异有统计学意义（24.3 ± 1.4vs25.9 ± 1.6，P = 0.05）。结论AR-CAG等位基因在PCOS患者和对照组中的分布存在差异，CAG重复序列长度多态性可能是PCOS患者高雄激素血症的发病机制之一。
PurposeMany studies have been carried out to confirm the relationship between androgen receptor gene CAG repeat polymorphism and polycystic ovary syndrome (PCOS), without consistent results. Hence we conducted the current study to research this relationship.Methods224 Chinese Han women with PCOS and 223 in vitro fertilization and embryo transplantation (IVF-ET) infertile women with tubal factor or male infertility served as the controls were recruited in our study. PCR-based assays were applied to genotype the (CAG)nrepeat alleles. A meta-analysis including 1,536 PCOS patients and 1,807 controls was conducted to produce a pooled estimate.ResultsWe observed that the CAG bi-allelic mean lengths were similar in PCOS patients and controls (22.65 ± 2.5 vs. 23.09 ± 2.1,P= 0.116). When CAG bi-allelic were divided into two categories (mean repeats ≤22, >22), the short AR-CAG bi-allelic showed more frequent in PCOS group than in controls (56.25 % vs 29.14 %,P< 0.001). Further analysis presented that, in PCOS, there was a lower mean CAG repeat lengths in mean bi-allelic lengths (22.3 ± 2.5 vs. 23.9 ± 2.2,P= 0.008) and long bi-allelic lengths (24.3 ± 1.4 vs. 25.9 ± 1.6,P= 0.05) among patients with testosterone less than 0.7 ng/ml compared with those whose testosterone was more than 0.7 ng/ml. Besides, the testosterone were positively correlated with the CAG polymorphism (r= 0.237,P= 0.008), which accorded with our meta-analysis results.ConclusionsThe distribution of AR-CAG allele differed between PCOS patients and controls, and polymorphism of CAG repeat lengths may contribute to hyperandrogenism in PCOS.