Key result
The DENND1A (rs10818854) polymorphism was significantly more prevalent in PCOS patients compared to healthy controls (P=0.001) and was associated with elevated levels of DHEAS.
Why the study?
PCOS pathology is complex with several potential mechanisms involved in genetic abnormalities, prompting evaluation of candidate gene polymorphisms in PCOS patients from the South Indian population.
Case-Control (n=30)
No
Absolute Event Rate: 10% vs 0%
p-value: p=0.001
The DENND1A (rs10818854) polymorphism is significantly associated with PCOS and elevated DHEAS levels in the South Indian population.
Hypothesis-generating for PCOS genetic risk in South Indians; requires validation before any clinical application.
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: = 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.
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Ramanathan et al. (2021) conducted a case-control in Polycystic Ovarian Syndrome (PCOS) (n=30). PCOS-associated gene polymorphisms (e.g., DENND1A rs10818854) vs. Healthy controls without PCOS was evaluated on Prevalence of DENND1A (rs10818854) polymorphism (p=0.001). The DENND1A (rs10818854) polymorphism was significantly more prevalent in PCOS patients compared to healthy controls (P=0.001) and was associated with elevated levels of DHEAS.
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