Molecular Human Reproduction, Vol. 5, No. 1, 5-9,
January 1999
© 1999 European Society of Human Reproduction and Embryology
No association between the 308 polymorphism in the tumour necrosis factor
(TNF
) promoter region and polycystic ovaries
1 Reproductive Medicine Unit, The University of Adelaide, The Queen Elizabeth Hospital, Woodville 5011, South Australia, Australia
The tumour necrosis factor (TNF)2 allele appears to be linked with increased insulin resistance and obesity, conditions often found in overweight patients with polycystic ovary syndrome (PCOS). The significance of TNF
polymorphism in relation to the clinical and biochemical parameters associated with PCOS was investigated in 122 well-characterized patients with polycystic ovaries (PCO). Of these, 84 had an abnormal menstrual cycle and were classified as having PCOS, while the remaining 38 had a normal menstrual cycle 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
gene was amplified by polymerase chain reaction (PCR), and the presence or absence of the polymorphism at 308 was determined by single-strand conformational polymorphism (SSCP) analysis. The less common TNF allele (TNF2) was found as TNF1/2 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 population. There was no significant difference in the incidence of the TNF2 allele between the groups. The relationship of TNF genotype to clinical and biochemical parameters was examined. In both the PCO group and the PCOS group, the presence of the TNF2 allele was significantly associated with lower glucose 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
308 polymorphism does not appear to strongly influence genetic susceptibility to polycystic ovaries.
polycystic ovary syndrome/polymorphism/tumour necrosis factor 
2 Current address: Walter and Eliza Hall Institute of Medical Research, Melbourne 3000, Australia
3 To whom correspondence should be addressed
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