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

Oleh:

Pyun, Jung-A. ; Kim, Sunshin ; Cha, Dong Hyun ; Ko, Jeong-Jae

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Fertility and Sterility (keterangan: ada di ClinicalKey) vol. 97 no. 04 (Apr. 2012), page 968-973.
Topik: HSD17B4; TG; Epistasis; Premature Ovarian Failure; Polymorphism

Ketersediaan

Perpustakaan FK Nomor Panggil: F02.K.2012.01 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

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.

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