No association between the -308 polymorphism in the tumour necrosis factoralpha (TNF alpha) promoter region and polycystic ovaries

The tumour necrosis factor (TNF)2 allele appears to be linked with increase d insulin resistance and obesity, conditions often found in overweight pati ents with polycystic ovary syndrome (PCOS). The significance of TNF alpha p olymorphism in relation to the clinical and biochemical parameters associat ed with PCOS was investigated in 122 well-characterized patients with polyc ystic ovaries (PCO). Of these, 84 had an abnormal menstrual cycle and were classified as having PCOS, while the remaining 38 had a normal menstrual cy cle and were classified as having PCO. There were a further 28 individuals without PCO (non-PCO) and 108 individuals whose PCO status was undetermined (reference population). The promoter region of the TNF alpha gene was ampl ified by polymerase chain reaction (PCR), and the presence or absence of th e polymorphism at -308 was determined by single-strand conformational polym orphism (SSCP) analysis. The less common TNF allele (TNF2) was found as TNF 1/2 or TNF2/2 in 11/38 (29%) of PCO subjects, 25/84 (30%) of PCOS subjects, 7/28 (25%) of non-PCO subjects, and 45/108 (42%) of the reference populati on. There was no significant difference in the incidence of the TNF2 allele between the groups. The relationship of TNF genotype to clinical and bioch emical parameters was examined. In both the PCO group and the PCOS group, t he presence of the TNF2 allele was significantly associated with lower gluc ose values obtained from the glucose tolerance testing (P < 0.05). The TNF genotype was not significantly associated with any clinical or biochemical parameter measured in the PCO, PCOS or non-PCOS groups. Thus, the TNF alpha -308 polymorphism does not appear to strongly influence genetic susceptibi lity to polycystic ovaries.