AI Article Synopsis
- The study investigates the role of specific gene polymorphisms (HIWI2 rs508485 and HIWI3 rs11703684) and mutations in the TDRD5 gene in relation to idiopathic non-obstructive azoospermia, a form of male infertility.
- It includes a case-control analysis with 226 non-obstructive azoospermia patients compared to 200 fertile males, using specific genetic testing methods.
- Findings suggest a significant association between the HIWI2 gene polymorphism and non-obstructive azoospermia, indicating that variations in piRNA pathway genes can contribute to male infertility risk.
Article Abstract
Genes involved in piwi-interacting RNAs (piRNAs) pathway have an essential role in spermatogenesis. HIWI and TDRD proteins are critical for piRNA biogenesis and function. Therefore, Mutations and polymorphisms in HIWI and TDRD genes may play role in male infertility. The aim of the present study was to investigate the role of HIWI2 rs508485 (T>C) and HIWI3 rs11703684 (C>T) polymorphisms and mutational analysis of TDRD5 gene in idiopathic non-obstructive azoospermia in a case-control study including 226 non-obstructive azoospermia patients and 200 fertile males. Genotyping for both polymorphisms was performed using Tetra-Primer ARMS PCR. Mutation analysis of TDRD5 gene was done using multi-temperature single strand conformation polymorphism technique (MSSCP). The frequency of rs508485TC genotype was significantly different in the studied groups (P = 0.0032; OR = 2.12; 95% CI, 1.29-3.48). In addition, the genotype frequencies showed a significant difference under dominant model (P = 0.005; OR = 2.79; 95% CI, 1.22-3.13). No mutation was detected in the Tudor domain of the TDRD5 in the studied patients. In conclusion, we provide evidence for association between genetic variation in the HIWI2 gene and idiopathic non-obstructive azoospermia in Iranian patients. Therefore, piRNA pathway genes variants can be considered as risk factors for male infertility.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5760646 | PMC |
| http://dx.doi.org/10.1038/s41598-017-17518-4 | DOI Listing |
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