Ethnic specificity of variants of the ESR1, HK3, BRSK1 genes and the 8q22.3 locus: No association with premature ovarian failure (POF) in Serbian women

Objective: To identify whether variants found in a large Han Chinese cohort - 8q22.3 SNPs rs3847153 and rs3108910; and one SNP each in HK3 (rs2278493), ESR1 (rs2234693) and BRSK1 (rs12611091) - are associated with premature ovarian failure (POF) in a different ethnic group (Serbian). Design: Case-control genetic association study in 197 Serbian POF cases and 552 matched controls. Results: None of the SNPs found associated with POF in Chinese cohort were found to be associated in the Serbian sample. Conclusions: In contrast to Han Chinese, no association was found between POF in Serbian women and any of the four tested loci: 8q22.3, HK3, ESR1 and BRSK1. This indicate's that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF. (C) 2013 Elsevier Ireland Ltd. All rights reserved.