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

Yingying Qin; Svetlana Vujovic; Guangyu Li; Jin Li; Raymond Dalgleish; Joe Leigh Simpson; Maja Ivanisevic; Miomira Ivovic; Milina Tancic; Farook Al-Azzawi; Zi-Jiang Chen

doi:10.1016/j.maturitas.2013.09.006

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.

Authors

Affiliations

¹ Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China.
² Faculty of Medicine, University of Belgrade, Clinic of Endocrinology, Clinical Center of Serbia, Belgrade, Serbia.
³ Gynaecology Research Unit, University Hospitals of Leicester, United Kingdom.
⁴ Department of Genetics, University of Leicester, Leicester, United Kingdom.
⁵ Research and Global Programs March of Dimes Foundation, White Plains, NY, USA; Human & Molecular Genetics, Obstetrics and Gynecology, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA.
⁶ Gynaecology Research Unit, University Hospitals of Leicester, United Kingdom. Electronic address: fa2@leicester.ac.uk.
⁷ Center for Reproductive Medicine, Shandong Provincial Hospital, Shandong University, National Research Center for Assisted Reproductive Technology and Reproductive Genetics, The Key Laboratory for Reproductive Endocrinology of Ministry of Education, Shandong Provincial Key Laboratory of Reproductive Medicine, Jinan, China; Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China. Electronic address: chenzijiang@hotmail.com.

PMID: 24103315
DOI: 10.1016/j.maturitas.2013.09.006

Abstract

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
Asian People
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

Substances

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