SPO11-C631T Gene Polymorphism: Association With Male Infertility and an in Silico-Analysis
-
Mohammad Karimian
,
Hossein Nikzad
,
Abolfazl Azami-Tameh
,
Aliakbar Taherian
,
Fatemeh Zahra Darvishi
,
Mohammad Javad Haghighatnia
Abstract
Objective: To investigate the association of C631T single nucleotide polymorphisms in SPO11 gene with male infertilityfollowed by an in silico approach. SPO11 is a gene involved in meiosis and spermatogenesis process, which in humans, this gene is located on chromosome 20 (20q13.2-13.3) with 13 exons.
Materials and methods: In a case-control study, 200 blood samples were collected from the IVF center (Kashan, Iran) including; 100 infertile and 100 healthy control men. SPO11-C631T were genotyped using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method.The effects of C631T transition on the structure of mRNA and protein of SPO11 was evaluated by bioinformatics tools.
Results: Our data revealed that all subjects were wild-type homozygous inC631T positionsand just a sample from fertile group was heterozygousin C631T (OR: 0.3300, 95% CI: 0.0133 to 8.1992,
p = 0.4988).Our in silico-analysis revealed that C631T transition could make fundamental changes in the structure of the mRNA (Score: 0.1983) and protein (PROVEAN Score: -3.371; Reliability Index: 4; Expected Accuracy: 82%) of SPO11. Also, C631T substitution could change the aggregation prone regions of the SPO11 protein (dTANGO = 209.99).
Conclusion: So even though the SPO11-C631T don’t increase the risk of male infertility, it could be deleterious for themRNA and protein.
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| Issue | Vol 9, No 4 (December 2015) | |
| Section | Original Articles | |
| Keywords | ||
| Male Infertility SPO11 Gene Single Nucleotide Polymorphism PCR-RFLP | ||
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