Centre for Medical Biotechnology, Maharshi Dayanand University , Rohtak , India.
Department of Obstetrics and Gynecology, PGIMS , Rohtak , India.
Syst Biol Reprod Med. 2019 Oct;65(5):400-408. doi: 10.1080/19396368.2019.1595217. Epub 2019 Apr 8.
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, < 0.0001 and OR 3.31, CI 1.30-8.41, = 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, < 0.0001). LHR CA and AA genotype conferred a significant risk in development of PCOS (OR 5.07, CI 2.50-10.31, < 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, < 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. : 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）中卵泡生成的改变和生殖异常表明，参与卵泡生成的基因变异可能会影响该综合征的病因发病机制。本研究的目的是评估黄体生成素β（LHβ）（rs1056917）和促黄体生成素受体（LHR）（rs61996318）多态性与多囊卵巢综合征的相关性，并将黄体生成素（LH）水平与 PCOS 临床表现的严重程度相关联。本回顾性病例对照研究纳入了 300 名育龄妇女。采用 Rotterdam 标准诊断 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。发现 88%的 PCOS 患者存在高 LH 水平。LHβ TC 和 CC 基因型与 PCOS 风险显著相关（OR [比值比] 13.95，CI [置信区间] 6.30-30.86， < 0.0001 和 OR 3.31，CI 1.30-8.41， = 0.01）。C 等位基因在 PCOS 中的频率为 0.31，在对照组中为 0.02（OR 18.80，CI 8.54-41.37， < 0.0001）。LHR CA 和 AA 基因型在 PCOS 的发病中具有显著风险（OR 5.07，CI 2.50-10.31， < 0.0001）。A 等位基因在 PCOS 中的频率为 0.51，在对照组中为 0.03（OR 26.62，CI 13.99-50.65， < 0.0001）。结果表明 LHβ、LHR 多态性与 PCOS 之间存在相关性，表明这些基因的变异可能影响该综合征的代谢途径。大多数受影响的女性都发现 LH 水平升高。本研究为 PCOS 综合征的诊断、治疗和管理提供了新的思路。：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：卵泡刺激素；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：稳态模型评估胰岛素抵抗；HWR：臀腰比；LDL-C：低密度脂蛋白胆固醇；LH：黄体生成素；LH：黄体生成素；LHR：促黄体生成素受体；O：月经稀发；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：接收者操作曲线；SBP：收缩压；SE：系数标准误差；SNP：单核苷酸多态性；TG：甘油三酯；TSH：促甲状腺激素；VD：维生素 D。
