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

ObjectiveTo 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).DesignCase–control genetic association study in 197 Serbian POF cases and 552 matched controls.ResultsNone of the SNPs found associated with POF in Chinese cohort were found to be associated in the Serbian sample.ConclusionsIn 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 indicates that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF.