Tumor necrosis factor-alpha promoter polymorphisms are associated with idiopathic primary ovarian insufficiency in Korean women.

Objective: To investigate the possible association between primary ovarian insufficiency (POI) and TNF-α gene polymorphisms in Korean women.

Methods: Case-control study. Methods: An urban university-based hospital in South Korea. Methods: A cohort of 135 Korean POI patients and 236 controls. Methods: None. Methods: We analyzed TNF-α gene variants of all participants using the polymerase chain reaction-restriction fragment length polymorphism assay.

Results: The TNF-α -1031TC+CC, -238GA+AA, -1031TC+CC/-308GG, -1031TT/-308GA+AA, -1031TC+CC/-238GA+AA, and -308GG/-238GA+AA genotypes were significantly more frequent in POI patients than in controls. Among the haplotypes for the three TNF-α loci, the -1031C/-308G/-238A haplotype was more frequent in POI patients than in controls and conferred POI susceptibility. In analyses of two loci, the -1031T/-308A, -1031C/-308G, -1031C/-238A, and -308G/-238A haplotypes were more frequent in POI patients.

Conclusions: The TNF-α -1031C and -238A alleles had strong association with POI. The TNF-α -308A allele showed limited significance for POI risk with the presence of the -1031T allele. Our data suggest that the minor alleles of TNF-α promoter polymorphisms may increase POI risk in Korean women.