Pilot study on evaluation and determination of the prevalence of Polycystic Ovarian Syndrome (PCOS) associated gene markers in the South Indian population

Indian J Endocrinol Metab. 2021 Nov-Dec;25(6):551-558. doi: 10.4103/ijem.ijem_340_21. Epub 2022 Feb 17.


Background: 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.

Methods: 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.

Results: 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.

Conclusion: In the study population, the presence of rs10818854 of DENND1A polymorphism may be associated with the risk of PCOS and high levels of DHEAS.

Keywords: ACE; CAPN10; CX37; DENND1A; FSHR; INSR; LHCGR; PCR; RFLP; THADA; polycystic ovarian syndrome; polymorphism.