Abstract：
Genetic variants are predisposing factors to polycystic ovary syndrome (PCOS), a multifactorial condition that often gets triggered due to various environmental factors. The study investigates the association of the variants of genes that are involved in the steroidogenesis pathway or gonadotropin pathway with the risk of PCOS. Appropriate keywords for predetermined genes were used to search in PubMed, Google Scholar, Science Direct, and Central Cochrane Library up to January 11, 2023. PROSPERO (CRD42022275425). Inclusion criteria: (a) case-control study; (b) genotype or allelic data. Exclusion criteria were: (a) duplicate studies; (b) clinical trials, systematic reviews, meta-analysis or conference abstract, case reports; (c) other than the English language; (d) having insufficient data; e) genetic variants for which meta-analysis has been reported recently and does not have a scope of the update. Various genetic models were applied as per data availability. Overall 12 variants of 7 genes were selected for the analysis. Relevant data were extracted from 47 studies which include 10,584 PCOS subjects and 16,150 healthy controls. Meta-analysis indicates a significant association between TOX3 rs4784165 [ORs = 1.08, 95% CI (1.00-1.16)], HMGA2 rs2272046 [ORs = 2.73, 95% CI (1.97-3.78)], YAP1 rs1894116 [OR = 1.22, 95% CI (1.13-1.33)] and increased risk of PCOS. Whereas FSHR rs2268361 [ORs = 0.84, 95% CI (0.78-0.89)] is associated with decreased PCOS risk. When sensitivity analysis was carried out, the association became significant for CYP19 rs700519 and FSHR rs6165 under an additive model. In addition, C9Orf3 rs3802457 became significantly associated with decreased PCOS risk with the removal of one study. Insignificant association was observed for CYP19A (rs2470152), FSHR (rs2349415, rs6166), C9Orf3 (rs4385527), GnRH1 (rs6185) and risk of PCOS. Our findings suggest association of CYP19A (rs700519), TOX3 (rs4784165), HMGA2 (rs2272046), FSHR (rs6165, rs2268361), C9orf3 (rs3802457), and YAP1 (rs1894116) with risk for PCOS.
摘要：
遗传变异是多囊卵巢综合征（PCOS）的诱发因素，通常由于各种环境因素而触发的多因素条件。该研究调查了参与类固醇生成途径或促性腺激素途径的基因变体与PCOS风险的关联。在PubMed中使用预定基因的适当关键字进行搜索，谷歌学者，科学直接，和中央科克伦图书馆至2023年1月11日。PROSPERO（CRD42022275425）。纳入标准：（a）病例对照研究；（b）基因型或等位基因数据。排除标准为：(a)重复研究；(b)临床试验，系统评价,荟萃分析或会议摘要，病例报告；（c）英语以外的语言；（d）数据不足；e）最近已报告荟萃分析且没有更新范围的遗传变异。根据数据可用性应用各种遗传模型。选择7个基因的总共12个变体用于分析。相关数据来自47项研究，其中包括10584名PCOS受试者和16150名健康对照。荟萃分析表明TOX3rs4784165[OR=1.08，95%CI(1.00-1.16)]之间存在显著关联，HMGA2rs2272046[OR=2.73，95%CI（1.97-3.78）]，YAP1rs1894116[OR=1.22，95%CI(1.13-1.33)]和PCOS风险增加。而FSHRrs2268361[OR=0.84，95%CI(0.78-0.89)]与PCOS风险降低相关。当进行敏感性分析时，在加性模型下,CYP19rs700519和FSHRrs6165的相关性变得显著.此外,一项研究的删除后，C9Orf3rs3802457与PCOS风险降低显著相关。CYP19A（rs2470152）无显著关联，FSHR(rs2349415,rs6166),C9Orf3(rs4385527),GnRH1（rs6185）与PCOS的风险。我们的研究结果表明CYP19A（rs700519），TOX3(rs4784165),HMGA2(rs2272046),FSHR(rs6165,rs2268361),C9orf3(rs3802457),和YAP1（rs1894116）有PCOS风险。
