Sex hormone-binding globulin (SHBG) is a plasma glycoprotein that binds androgens and oestrogens, and regulates their bioavailability to target tissues. To date, several human SHBG gene polymorphisms have been identified. Polycystic ovary syndrome (PCOS) is one of the most common endocrine disorders, and hyperandrogenism has been considered to be a hallmark of PCOS. Many studies have examined the association between SHBG gene polymorphisms and PCOS risk, but the results have been inconclusive or inconsistent. Therefore, the aim of this meta-analysis was to investigate whether SHBG gene polymorphisms are associated with risk of PCOS. Twelve studies were included, involving 4733 participants: 2271 patients with PCOS and 2462 control participants. The results revealed that SHBG polymorphism of eight or more (TAAAA)n pentanucleotide repeats (rs35785886) was associated with PCOS risk (odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.06, 1.44, Z = 2.77, P = 0.006) and low serum SHBG concentrations in women with PCOS (standardized mean difference = –0.83, 95% CI = –1.54, –0.12, Z = 2.30, P = 0.02). Other SHBG gene polymorphisms (rs6259, rs6257, rs727428 and rs1799941) were not significantly associated with either PCOS risk or serum SHBG concentrations. These findings suggest that the presence of a polymorphism of eight or more SHBG (TAAAA)_n may be a predictive factor for the risk of PCOS.

性激素结合球蛋白 (SHBG) 是一种血浆糖蛋白，可结合雄激素和雌激素，并调节它们对靶组织的生物利用度。迄今为止，已经鉴定了几种人类SHBG基因多态性。多囊卵巢综合征 (PCOS) 是最常见的内分泌疾病之一，雄激素过多被认为是 PCOS 的标志。许多研究检查了SHBG基因多态性与 PCOS 风险之间的关联，但结果尚无定论或不一致。因此，本荟萃分析的目的是调查SHBG基因多态性与 PCOS 风险相关。包括 12 项研究，涉及 4733 名参与者：2271 名 PCOS 患者和 2462 名对照参与者。结果显示，8 个或更多 (TAAAA)n 五核苷酸重复序列 (rs35785886) 的SHBG多态性与 PCOS 风险相关（优势比 [OR] = 1.24，95% 置信区间 [CI] = 1.06, 1.44，Z  = 2.77，P  = 0.006) 和 PCOS 女性血清 SHBG 浓度低（标准化平均差 = –0.83，95% CI = –1.54，–0.12，Z = 2.30，P = 0.02）。其他SHBG基因多态性（rs6259、rs6257、rs727428 和 rs1799941）与 PCOS 风险或血清 SHBG 浓度均无显着相关性。这些发现表明，存在 8 个或更多SHBG (TAAAA) _n的多态性可能是 PCOS 风险的预测因素。