Association of the VDAC3 gene polymorphism with sperm count in Han-Chinese population with idiopathic male infertility
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Lianjun Pan1,*, Qingzhen Liu2,*, Jingyun Li3,*, Wei Wu4, Xinru Wang4, Dan Zhao1 and Jiehua Ma1
1State Key Laboratory of Reproductive Medicine, Department of Urology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China
2Department of Anesthesiology, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002, China
3Department of Gynaecology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China
4State Key Laboratory of Reproductive Medicine, Institute of Toxicology, Nanjing Medical University, Nanjing 210029, China
*These authors contributed equally to this work
Dan Zhao, email: [email protected]
Jiehua Ma, email: [email protected]
Keywords: VDAC, male infertility, semen
Received: October 20, 2016 Accepted: March 27, 2017 Published: April 06, 2017
Voltage-dependent anion channel (VDAC) is a multifunctional channel protein across the outer mitochondrial membrane of somatic cells and participates in many physiological and pathophysiological processes. Up to now, only a few studies, including our previous studies, showed that VDAC exists in mammalian spermatozoa and is involved in spermatogenesis and sperm functions. There is no report about VDAC genetic variants in germinal tissues or cells. To investigate the possible association between VDAC genetic variants and human sperm quality, we performed semen analysis and variant Genotyping of VDAC3 subtype (rs7004637, rs16891278 and rs6773) of 523 Han-Chinese males with idiopathic infertility respectively by computer assisted semen analysis (CASA) and single nucleotide polymorphism (SNP) Genotyping assay. No significant association was found between rs7004637 and rs6773 genotypes and semen quality. However, the AG genotype of rs16891278 showed a significantly lower sperm concentration compared with the AA genotype (P = 0.044). Our findings suggest that VDAC3 genetic variants may be associated with human sperm count.
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