TNF-α haplotype association with polycystic ovary syndrome – a South Indian study

Abstract

Background Tumor Necrosis Factor Alpha (TNF-α), is a proinflammatory cytokine in the pathogenesis of Polycystic Ovary Syndrome (PCOS). In order to investigate the role of rs1800629 and rs1799964 polymorphisms in relation to anthropometric measures, family history of complex diseases, diet and clinical features, we performed a case control study in PCOS women from South India. Methods A total of 589 samples comprising of 283 patients and 306 controls were enrolled in the present study. Patients were selected based on Rotterdam criteria and ultrasound scanned normal women were selected as controls. Following extraction of DNA, genotyping for rs1800629 and rs1799964 was performed by polymerase chain reaction using tetra primers and PCR-RFLP respectively. Results The distribution of genotypes for rs1799964 was significantly different between the groups (p =0.001), however it was not for rs1800629. Haplotype analysis revealed a significant difference between patients and controls. The predisposing and protective role of haplotype with mutant allele at both loci (combination 3) and haplotype with mutant allele at either loci was reflected by the over representation of combination 3 in patients and combination 2 in controls respectively. In addition, rs1799964 showed an association with dietary habit, clinical hyperandrogenism and AAO. The modifying role of TT genotype on age at onset was noted in quartile analysis. ConclusionReplicative studies on the influence of TNF-α polymorphism in different ethnic groups may identify the potentiality of these polymorphisms as markers of inflammation and in turn may help the clinicians for the better management of the condition.

Associations between TNF-α and interleukin gene polymorphisms with polycystic ovary syndrome risk: a systematic review and meta-analysis

“…Eight publications were excluded for insufficient or uncorrelated data according to our inclusion criteria [9,11,10,14,13,23,24,30]. Finally, 18 articles met the inclusion criteria and were selected [8,7,27,12,28,18,15,17,20,19,22,21,25,26,29,31,16]. The study selection process is shown in Fig.…”

“…For -308G>A, 582 PCOS cases and 563 controls from 4 articles [32,31,17,27] were included. For -805C>T, 87 cases and 115 controls were analyzed from the study by Korhonen [29].…”

CYP11A1 microsatellite (tttta)n polymorphism in PCOS women from South India

“…Their BMI was calculated by the formula: body weight in kg/ height in meters square (kg/ m 2 ) and waist circumference was measured between the lower rib and the iliac crest at the end of a normal expiration. A value ≥23 kg/m 2 [1,14] was considered as over-weight/obese and a value of≥0.8 was regarded to have abdominal obesity.…”

“…Polycystic Ovary Syndrome (PCOS) is one of the most common endocrine disorders affecting 5% to 12% of women of reproductive age worldwide [1,2]. However, the estimated frequency may rise up to 25 % depending on the diagnostic criteria used.…”

“…Elevated levels of androgens seem to influence the process of follicular maturation leading to PCOS phenotype [3,4]. This complex disorder with clinical features changes throughout the life span and is often associated with long term consequences such as obesity, type 2 diabetes, endometrial hyperplasia, thyroid dysfunction and cardiovascular diseases [1]. Clinical and genetic heterogeneity is observed in PCOS and invariably associated with hyperandrogenic condition indicating the possible involvement of abnormalities associated with steroidogenic pathway.…”