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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
Authors: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
Affiliation: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;6. Human & Molecular Genetics, Obstetrics and Gynecology, Herbert Wertheim College of Medicine, Florida International University, Miami, FL, USA;g Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China
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:BRSK1   ESR1   HK3   Premature ovarian failure (POF)   8q22.3
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