Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure

This study revealed that both epistasis between singlenucleotide polymorphisms of HSD17B4 and TG and an HSD17B4 haplotype were significantly associated with premature ovarian failure.


Jung-A. Pyun, M.S., Sunshin Kim, Ph.D., Dong Hyun Cha, M.D., Ph.D., Jeong-Jae Ko, Ph.D., KyuBum Kwack, Ph.D.

Volume 97, Issue 4, Pages 968-973



To identify whether epistasis between TG and HSD17B4 and whether polymorphisms in HSD17B4 are associated with premature ovarian failure (POF).


Case-control genetic association study.


Research laboratory of a university.


Female patients with POF (98) and controls (218) of Korean ethnicity participated in this study.



Main Outcome Measure(s):

Genotype distribution, haplotype (HT) inference, and gene–gene interaction.


Distribution of one haplotype (A-G-A-A-G-G) on the HSD17B4 gene was significantly different between the POF group and the control group in a dominant model. In addition, the combined effect of the single nucleotide polymorphisms (SNPs) HSD17B4 rs28943592 and TG rs2076740 was significantly associated with POF (odds ratio = 7.74, 95% confidence interval = 1.67–35.94), although a significant association was not observed in the single SNP model.


A haplotype in the HSD17B4 gene was identified that was significantly associated with resistance to POF. In addition, epistasis between two missense SNPs (rs28943592, rs2076740) located in HSD17B4 and TG was significantly associated with susceptibility to POF.

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