Altered folliculogenesis and reproductive anomalies in polycystic ovary syndrome (PCOS) suggest that variations of genes involved in folliculogenesis might influence etiopathogenesis of this syndrome. The objective of this study was to assess the association of LHβ (rs1056917) and lutropin receptor (LHR) (rs61996318) polymorphism with polycystic ovarian syndrome and to interrelate the levels of luteinizing hormone (LH) with severity of clinical manifestations of PCOS. Three hundred women of reproductive age were enrolled in this retrospective case-control study. Rotterdam Criteria was used to diagnose PCOS patients. Nucleotide mutations of LH and LHR gene was analyzed using polymerase chain reaction-restriction fragment length polymorphism. High LH levels were found in 88% of PCOS patients. LHβ TC and CC genotypes were significantly associated with PCOS risk (OR [odds ratio] 13.95, CI [confidence interval] 6.30–30.86, p < 0.0001 and OR 3.31, CI 1.30–8.41, p = 0.01). The frequency of the C allele was 0.31 in PCOS and 0.02 in controls (OR 18.80, CI 8.54–41.37, p < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50–10.31, p < 0.0001). The frequency of the A allele was 0.51 in PCOS and 0.03 in controls (OR 26.62, CI 13.99–50.65, p < 0.0001). The results show an association between polymorphism of LHβ, LHR and PCOS, indicating that variants of these genes may affect the metabolic pathways involved in this syndrome. Majority of the affected women were found to have elevated LH levels. This study sheds new light in the diagnosis, treatment and management of PCOS syndrome.

Abbreviations: AUC: area under curve; BMI: body mass index; C: cholesterol; CI: confidence interval; DBP: diastolic blood pressure; DHEAS: dehydroepiandrosterone sulfate; FG: Ferriman–Gallway; FSH: follicle stimulating hormone; GHQ: general health questionnaire; HA: hyperandrogenism; HDL-C: high-density lipoprotein cholesterol; HOMA-IR: homeostatic model assessment for insulin resistance; HWR: hip waist ratio; LDL-C: low-density lipoprotein cholesterol; LH: luteinizing hormone; LH: luteinizing hormone; LHR: lutropin receptor; O: oligomenorrhea; OR: odds ratio; PCO: polycystic ovaries; PCO: polycystic ovary; PCOS: polycystic ovary syndrome; PCR: polymerase chain reaction; ROC: receiver operating curve; SBP: systolic blood pressure; SE: standard error of coefficient; SNP: single nucleotide polymorphism; TG: triglycerides; TSH: thyroid stimulating hormone; VD: vitamin D

多囊卵巢综合征（PCOS）的卵泡发生和生殖异常改变提示，参与卵泡发生的基因变异可能会影响该综合征的病因。这项研究的目的是评估LHβ（rs1056917）和促肾上腺素受体（LHR）（rs61996318）多态性与多囊卵巢综合征的相关性，并把黄体生成激素（LH）的水平与PCOS临床表现的严重性联系起来。这项回顾性病例对照研究纳入了300名育龄妇女。鹿特丹标准用于诊断PCOS患者。使用聚合酶链反应-限制性片段长度多态性分析LH和LHR基因的核苷酸突变。在88％的PCOS患者中发现了较高的LH水平。p <0.0001，OR为3.31，CI为1.30-8.41，p = 0.01）。C等位基因的频率在PCOS中为0.31，在对照中为0.02（OR 18.80，CI 8.54–41.37，p <0.0001）。LHR CA和AA基因型给PCOS的发展带来重大风险（OR 5.07，CI 2.50-10.31，p <0.0001）。A等位基因的频率在PCOS中为0.51，在对照中为0.03（OR 26.62，CI 13.99-50.65，p <0.0001）。结果表明，LHβ，LHR和PCOS的多态性之间存在关联，表明这些基因的变异可能会影响该综合征涉及的代谢途径。发现大多数受影响的妇女的LH水平升高。这项研究为PCOS综合征的诊断，治疗和管理提供了新的思路。

缩略语：AUC：曲线下面积；BMI：体重指数；C：胆固醇；CI：置信区间；DBP：舒张压；DHEAS：脱氢表雄酮硫酸盐；FG：Ferriman-Gallway；FSH：促卵泡激素；GHQ：一般健康问卷；HA：高雄激素血症；HDL-C：高密度脂蛋白胆固醇；HOMA-IR：胰岛素抵抗的稳态模型评估；HWR：臀围腰围比例；LDL-C：低密度脂蛋白胆固醇；LH：促黄体激素；LH：促黄体激素；LHR：促肾上腺素受体；O：少经；OR：比值比；PCO：多囊卵巢；PCO：多囊卵巢；PCOS：多囊卵巢综合征；PCR：聚合酶链反应；ROC：接收机工作曲线；SBP：收缩压；SE：系数的标准误差；SNP：单核苷酸多态性；TG：甘油三酸酯；TSH：促甲状腺激素；VD：