• PMID: 29317647
• Gene Name: TDRD5
• Condition: Idiopathic non-obstructive azoospermia
• Association: Associated
• Mutation: HIWI2 rs508485 (T>C), HIWI3 rs11703684 (C>T), TDRD5 rs508485TC
• Population size: 426
• Population details: 426 (226 non-obstructive azoospermia patients, 200 fertile males)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Idiopathic non-obstructive azoospermia

Investigation of piwi-interacting RNA pathway genes role in idiopathic non-obstructive azoospermia

Kamaliyan Z, Pouriamanesh S, Soosanabadi M, Gholami M, Mirfakhraie R.

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. FAU - Kamaliyan, Zeeba AU - Kamaliyan Z AD - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Pouriamanesh, Sara AU - Pouriamanesh S AD - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. FAU - Soosanabadi, Mohsen AU - Soosanabadi M AD - Faculty of Medicine, Semnan University of Medical Sciences, Tehran, Iran. FAU - Gholami, Milad AU - Gholami M AD - Department of Medical Genetics, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.