Related Experiment Video
Updated: May 25, 2026

Evaluation of Hepatic Glucose Production in a Polycystic Ovary Syndrome Mouse Model
Published on: March 5, 2022
Epistasis between the HSD17B4 and TG polymorphisms is associated with premature ovarian failure
Jung-A Pyun1, Sunshin Kim, Dong Hyun Cha
1Department of Biomedical Science, College of Life Science, CHA University, Seongnam, South Korea.
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.
Related Concept Videos
Oogenesis
Genetic Lingo
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Nondisjunction

