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

Maturitas. 2014 Jan;77(1):64-7. doi: 10.1016/j.maturitas.2013.09.006. Epub 2013 Sep 20.


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 indicates that ethnically distinct populations may show differences in gene-regulating pathways and genes causing POF.

Keywords: 8q22.3; BRSK1; ESR1; HK3; Premature ovarian failure (POF).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Asians
  • Cohort Studies
  • Estrogen Receptor alpha / genetics*
  • Ethnicity / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease / ethnology
  • Genotype*
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • Menopause, Premature / ethnology
  • Menopause, Premature / genetics*
  • Polymorphism, Single Nucleotide*
  • Primary Ovarian Insufficiency / ethnology
  • Primary Ovarian Insufficiency / genetics*
  • Protein Serine-Threonine Kinases / genetics*
  • Serbia
  • Young Adult


  • Estrogen Receptor alpha
  • Intracellular Signaling Peptides and Proteins
  • BRSK1 protein, human
  • Protein Serine-Threonine Kinases