Department of Gynecology and Obstetrics, Jessenius Faculty of Medicine in Martin, Comenius University in Bratislava, Slovakia.
JBRA Assist Reprod. 2023 Mar 30;27(1):60-70. doi: 10.5935/1518-0557.20220043.
Multiple genetic variants have been studied for years to try to find an association with polycystic ovary syndrome (PCOS). This meta-analysis will investigate if there are associations between increased risk of PCOS and rs6165 polymorphism in follicle stimulating hormone receptor (FSHR) gene and rs2479106 polymorphism in differentially expressed in Differentially Expressed in Normal and Neoplastic Development Isoform 1A (DENND1A) gene.
Studies were identified from PubMed library, and case-control studies with correct polymorphisms and available genotype frequencies were included. The statistical analysis is done in Review Manager 5.3, and odds ratio (OR) with corresponding 95% confidence interval (CI) was calculated to see if any association with PCOS exists.
In the study of FSHR gene, eight articles with 1539 cases and 1877 controls were included. No relations were found between PCOS and rs6165 polymorphism in neither the allelic (OR=1.07, 95% CI=0.97-1.19, p=0.18), recessive (OR=1.21, 95% CI=0.98-1.50, p=0.07) nor the dominant (OR=1.05, 95% CI=0.91-1.20, p=0.53) model. The rs2479106 polymorphism in DENND1A gene included 10 studies with 3627 cases and 20325 controls. Only the Asian subgroup in the recessive model (OR=1.84, 95% CI=1.19-2.85, p=0.006) showed a positive relation with PCOS, while associations were not found within the overall results in the allelic (OR=1.09, 95% CI=0.98-1.21, p=0.10), recessive (OR=1.26, 95% CI=0.73-2.19, p=0.41) or the dominant (OR=1.31, 95% CI=1.00-1.71, p=0.05) model.
This meta-analysis suggests that rs2479106 polymorphism in DENND1A gene is associated with increased risk of PCOS in the Asian population. No relations were found with increased risk of PCOS and rs6165 polymorphism in FSHR gene.
多年来,人们一直在研究多种遗传变异,试图找到与多囊卵巢综合征(PCOS)相关的关联。本荟萃分析将研究卵泡刺激素受体(FSHR)基因中 rs6165 多态性和差异表达的分化发育同型 1A(DENND1A)基因中 rs2479106 多态性与 PCOS 风险增加之间是否存在关联。
从 PubMed 库中检索研究,纳入了正确的多态性和可用基因型频率的病例对照研究。统计分析采用 Review Manager 5.3 进行,计算比值比(OR)及其相应的 95%置信区间(CI),以确定是否与 PCOS 存在关联。
在 FSHR 基因研究中,纳入了 8 项研究,共 1539 例病例和 1877 例对照。无论是在等位基因(OR=1.07,95%CI=0.97-1.19,p=0.18)、隐性(OR=1.21,95%CI=0.98-1.50,p=0.07)还是显性(OR=1.05,95%CI=0.91-1.20,p=0.53)模型中,均未发现 PCOS 与 rs6165 多态性之间存在关联。DENND1A 基因中的 rs2479106 多态性包括 10 项研究,共 3627 例病例和 20325 例对照。仅在隐性模型的亚洲亚组中(OR=1.84,95%CI=1.19-2.85,p=0.006)发现与 PCOS 呈阳性关联,而在总体结果的等位基因(OR=1.09,95%CI=0.98-1.21,p=0.10)、隐性(OR=1.26,95%CI=0.73-2.19,p=0.41)或显性(OR=1.31,95%CI=1.00-1.71,p=0.05)模型中均未发现关联。
本荟萃分析表明,DENND1A 基因中的 rs2479106 多态性与亚洲人群 PCOS 风险增加相关。FSHR 基因中 rs6165 多态性与 PCOS 风险增加无关。