OBJECTIVE: To identify whether epistasis between TG and HSD17B4 and whether polymorphisms in HSD17B4 are associated with premature ovarian failure (POF). DESIGN: Case-control genetic association study. SETTING: Research laboratory of a university. PATIENT(S): Female patients with POF (98) and controls (218) of Korean ethnicity participated in this study. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype distribution, haplotype (HT) inference, and gene-gene interaction. RESULT(S): 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. CONCLUSION(S): 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.
OBJECTIVE: To identify whether epistasis between TG and HSD17B4 and whether polymorphisms in HSD17B4 are associated with premature ovarian failure (POF). DESIGN: Case-control genetic association study. SETTING: Research laboratory of a university. PATIENT(S): Female patients with POF (98) and controls (218) of Korean ethnicity participated in this study. INTERVENTION(S): None. MAIN OUTCOME MEASURE(S): Genotype distribution, haplotype (HT) inference, and gene-gene interaction. RESULT(S): 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) HSD17B4rs28943592 and TGrs2076740 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. CONCLUSION(S): 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.