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

Tumor necrosis factor-a gene mutations may be responsible for the genetic susceptibility of Korean women to idiopathic primary ovarian insufficiency.


Ji Hyang Kim, M.D., Young Joo Jeon, M.S., Hyung Chul Rah, D.V.M., Ph.D., Bo Eun Lee, B.S., Dong Hee Choi, M.D., Ph.D., Woo Sik Lee, M.D., Ph.D., Nam Keun Kim, Ph.D.

Vol 98, Issue 5, Pages 1260-1265.e2



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


Case-control study.


An urban university-based hospital in South Korea.


A cohort of 135 Korean POI patients and 236 controls.



Main Outcome Measure(s):

We analyzed TNF-α gene variants of all participants using the polymerase chain reaction-restriction fragment length polymorphism assay.


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 (P<0.0001). In analyses of two loci, the -1031T/-308A, -1031C/-308G, -1031C/-238A, and -308G/-238A haplotypes were more frequent in POI patients. Conclusion(s):

TNF-α -1031C allele and -238A allele had strong association with POI. 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.

Read the full text at: http://www.fertstert.org/article/S0015-0282(12)01847-X/fulltext

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