Idiopathic male infertility in the Han population in China is affected by polymorphism in the VDAC2 gene.
BACKGROUND
It has been proved that human voltage-dependent anion channel 2 (VDAC2) plays a significant role in sperm function and male fertility. This study was primarily aimed at exploring whether VDAC2 is a risk factor for idiopathic male infertility.


RESULTS
We determined a significantly increased risk of idiopathic infertility with abnormal semen parameters in association with the variant rs2804535 and a decreased risk of idiopathic infertility with abnormal semen parameters in association with the variant rs11001334. However, among subjects with normal semen parameters, no significant differences could be found in these genotypes. Moreover, we could not find any differences in the variants rs7896741 and rs1259503, which showed no risk of male infertility, whether normal or abnormal.


METHODS
All of the experimental subjects, including 523 men who cannot conceive children and 277 fertile controls, underwent complete historical and physical examinations. Each participant donated an ejaculate for semen analysis and 5 ml of peripheral blood for genomic DNA extraction. A computer-assisted semen analysis system was used for the semen analysis. Four single-nucleotide polymorphisms were identified and analyzed using TaqMan SNP Genotyping Assays.


CONCLUSIONS
The result shows that the relationships between different variants in the VDAC2 gene and male fertility differ, and the individuals who carry those variants may have a decreased or increased risk of abnormal semen parameters associated with male infertility.
State Key Laboratory of Reproductive Medicine, Department of Urology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Lianjun
L
Pan
Department of Urology, Yidu Central Hospital of Weifang, Qingzhou 262500, China.
Daoxian
D
Qiu
State Key Laboratory of Reproductive Medicine, Department of Plastic and Cosmetic Surgery, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jingyun
J
Li
State Key Laboratory of Reproductive Medicine, Department of Plastic and Cosmetic Surgery, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jun
J
Li
Department of Gynaecology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Pu
P
Xu
State Key Laboratory of Reproductive Medicine, Department of Urology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Dan
D
Zhao
State Key Laboratory of Reproductive Medicine, Department of Urology, Nanjing Maternity and Child Health Care Hospital Affiliated to Nanjing Medical University, Nanjing 210004, China.
Jiehua
J
Ma
D000328:Adult; D044466:Asian People / Q000235:genetics; D016022:Case-Control Studies; D002681:China; D005298:Fertility / Q000235:genetics*; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055101:Semen Analysis; D050996:Voltage-Dependent Anion Channel 2 / Q000235:genetics*; D055815:Young Adult
C494765:VDAC2 protein, human; D050996:Voltage-Dependent Anion Channel 2
VDAC2; genetic diversity; idiopathic male infertility; semen parameters