Lanzhou University Second Hospital, Medical Record Department, Lanzhou, 730030, Gansu Province, China.
Blood Center of Zhejiang Province, Blood Donation Service Department, Hangzhou, 310006, Zhejiang Province, China.
BMC Med Genet. 2019 Feb 14;20(1):32. doi: 10.1186/s12881-019-0763-5.
Polycystic ovary syndrome (PCOS) is a common endocrine disorder in reproductive-age women. Multiple susceptible gene as well as environmental factors and their interaction each other are contributed to the PCOS risk. Several case-control studies have researched the associations of the vitamin D receptor gene (VDR) polymorphisms with PCOS susceptibility, but the jury is still out. Here, we carried out a meta-analysis to clarify polymorphisms between ApaI (C/A) (rs7975232), BsmI (G/A) (rs1544410), FokI (C/T) (rs10735810), TaqI (T/C) (rs731236) and Tru9I (G/A) (rs757343) in the VDR gene and PCOS susceptibility based on relative lager sample size.
English database of PubMed and Embase, and Chinese database of Wanfang and China National Knowledge Infrastructure (CNKI) databases were retrivaled for the relationship between VDR gene variates and PCOS susceptibility published before 31th, May 2018. Crude odds ratios (ORs) and its 95% confidence intervals (95% CIs) in different comparisons were used to detected the strength of the association. All the statistical analyses of the present meta-analysis were performed by STATA version 12.0 software.
Totally, 3587 (PCOS group 1922; control group 1665) participants from 13 studies were included which met our inclusion criteria. A statistically significant association between VDR ApaI (rs7975232) polymorphism and PCOS susceptibility (C vs. A: OR = 1.19, 95%CI = 1.061.34, P = 0.004) was found in the overall population. After stratified by ethnicity, we showed that there is a significant association between VDR ApaI (rs7975232) polymorphism and susceptibility to PCOS in the Asian (C vs. A: OR = 1.21, 95%CI = 1.041.42, P = 0.016) population, but this association was not found in the Caucasian population. Additionally, a significant relationship between VDR BsmI (rs1544410) variates with PCOS susceptibility in the Asian (G vs. A: OR = 1.27, 95%CI = 1.06~1.53, P = 0.011) population, but this association was not found in the Caucasian population. We didn't find any association between VDR FokI (rs2228570), VDR TaqI (rs731236), VDR Tru9I (rs757343) and PCOS susceptibility in the overall and the subgroup populations.
Our findings demonstrated that VDR ApaI (rs7975232) and VDR BsmI (rs1544410) polymorphisms are correlated with susceptibility to PCOS in the Asian population and VDR TaqI (rs731236), VDR FokI (rs2228570), VDR Tru9I (rs757343) did not reveal a relationship with the PCOS susceptibility.
多囊卵巢综合征(PCOS)是生殖年龄妇女常见的内分泌疾病。多个易感基因以及环境因素及其相互作用都与 PCOS 风险有关。多项病例对照研究已经研究了维生素 D 受体基因(VDR)多态性与 PCOS 易感性之间的关系,但仍存在争议。在这里,我们进行了一项荟萃分析,以阐明 VDR 基因中的 ApaI(C/A)(rs7975232)、BsmI(G/A)(rs1544410)、FokI(C/T)(rs10735810)、TaqI(T/C)(rs731236)和 Tru9I(G/A)(rs757343)多态性与 PCOS 易感性之间的关系,基于相对较大的样本量。
检索了 Pubmed 和 Embase 的英文数据库、万方和中国国家知识基础设施(CNKI)的中文数据库,以获取截止 2018 年 5 月 31 日发表的关于 VDR 基因变异与 PCOS 易感性关系的文献。不同比较中使用粗比值比(OR)及其 95%置信区间(95%CI)来检测关联的强度。本荟萃分析的所有统计分析均采用 STATA 版本 12.0 软件进行。
共有 13 项研究的 3587 名(PCOS 组 1922 名;对照组 1665 名)参与者符合我们的纳入标准。在总体人群中,VDR ApaI(rs7975232)多态性与 PCOS 易感性之间存在统计学显著关联(C 对 A:OR=1.19,95%CI=1.061.34,P=0.004)。按种族分层后,我们表明 VDR ApaI(rs7975232)多态性与亚洲人群 PCOS 易感性之间存在显著关联(C 对 A:OR=1.21,95%CI=1.041.42,P=0.016),但在白种人群中未发现这种关联。此外,VDR BsmI(rs1544410)多态性与亚洲人群 PCOS 易感性之间存在显著关系(G 对 A:OR=1.27,95%CI=1.06~1.53,P=0.011),但在白种人群中未发现这种关联。我们没有发现 VDR FokI(rs2228570)、VDR TaqI(rs731236)和 VDR Tru9I(rs757343)与 PCOS 易感性之间的任何关联在总体和亚人群中。
我们的研究结果表明,VDR ApaI(rs7975232)和 VDR BsmI(rs1544410)多态性与亚洲人群 PCOS 易感性有关,而 VDR TaqI(rs731236)、VDR FokI(rs2228570)、VDR Tru9I(rs757343)与 PCOS 易感性无明显关系。