未经证实:多囊卵巢综合征(PCOS)的典型特征是一系列表现,包括月经不调,无排卵,囊肿,像多毛症这样的高雄激素特征,痤疮,脱发,和各种代谢并发症。PCOS的病理是复杂的,几种机制可能涉及遗传异常/功能障碍。因此,本研究旨在检查候选基因(甲状腺腺瘤相关基因[THADA],黄体生成素和人绒毛膜促性腺激素受体[LHCGR],含有1A[DENND1A]的DENN域,卵泡刺激素受体[FSHR],Connexin37[CX37],血管紧张素转换酶[ACE],南印度地区PCOS患者的胰岛素受体[INSR]和钙蛋白酶10[CAPN10])。
未经评估:研究组包括20例PCOS病例和10例对照,其脱氧核糖核酸(DNA)通过聚合酶链反应(PCR)进行基因分型,PCR-限制性片段长度多态性(RFLP),和PCR产物测序以确定DENND1A(rs10818854)的患病率,LHCGR(rs13405728),FSHR(rs2349415),THADA(rs13429458),CX37(rs1764391),ACE(rs1799752),INSR(rs1799817),和CAPN10(rs2975760)多态性。临床检查,包括人体测量,与葡萄糖代谢相关的生化研究,和荷尔蒙被测量。
UNASSIGNED:在对照和PCOS患者之间观察到DENND1A(rs10818854)多态性的显着差异(P=0.001)。LHCGR的变体,FSHR,THADA,CX37、ACE、INSR,和CAPN10与PCOS无统计学意义。体重指数(BMI)(P=0.01),甘油三酯(P=0.01),硫酸脱氢表雄酮(DHEAS)与对照组比较差异有统计学意义(P=0.05)。在INSR的rs1799817单核苷酸多态性(SNP)中观察到显着结果,甘油三酯和DENND1A的rs10818854水平升高,THADA的rs13429458,具有高水平DHEAS的FSHR的rs2349415。
未经评估:在研究人群中,DENND1A多态性rs10818854的存在可能与PCOS和高水平DHEAS的风险相关。
UNASSIGNED: Polycystic ovarian syndrome (PCOS) is typically characterized by a spectrum of manifestations that include menstrual irregularities, anovulation, cysts, hyperandrogenic features like hirsutism, acne, alopecia, and various metabolic complications. The pathology of PCOS is complex and several mechanisms have been potentially involved in the genetic abnormalities/dysfunctions. Hence, the present
study aims to examine the prevalence and association of polymorphisms in candidate genes (thyroid adenoma-associated gene [THADA], luteinizing hormone and human chorionic gonadotropin receptor [LHCGR], DENN domain containing 1A [DENND1A], follicle-stimulating hormone receptor [FSHR], Connexin37 [CX37], angiotensin-converting enzyme [ACE], insulin receptor [INSR] and calpain 10 [CAPN10]) in PCOS patients of the South Indian regional population.
UNASSIGNED: The
study group included 20 PCOS cases and 10 controls, whose deoxyribonucleic acid (DNA) were genotyped by the polymerase chain reaction (PCR), PCR-restriction fragment length polymorphism (
RFLP), and PCR product sequencing to determine the prevalence of the DENND1A (rs10818854), LHCGR (rs13405728), FSHR (rs2349415), THADA (rs13429458), CX37 (rs1764391), ACE (rs1799752), INSR (rs1799817), and CAPN10 (rs2975760) polymorphisms. Clinical examinations including anthropometric measurements, biochemical investigations relevant to glucose metabolism, and hormones were measured.
UNASSIGNED: A significant difference was observed in the DENND1A (rs10818854) polymorphism between the control and PCOS patients (P = 0.001). The variants of LHCGR, FSHR, THADA, CX37, ACE, INSR, and CAPN10 were not statistically significant with PCOS. The body mass index (BMI) (P = 0.01), triglycerides (P = 0.01), and dehydroepiandrosterone sulfate (DHEAS) (P = 0.05) were significantly different between the PCOS patients and controls. Significant results were observed in rs1799817 single nucleotide polymorphisms (SNP) of INSR with elevated levels of triglycerides and rs10818854 of DENND1A, rs13429458 of THADA, rs2349415 of FSHR with the high levels of DHEAS.
UNASSIGNED: In the
study population, the presence of rs10818854 of DENND1A polymorphism may be associated with the risk of PCOS and high levels of DHEAS.