|
|||||
|
|
Genetic contribution of HIST1H1T regulatory region alternations to human nonobstructive azoospermia |
|
| Authors: | Zhila Mollaee Raha Favaedi Parham Jazireian Parvaneh Afsharian Anahita Mohseni Meybodi Maryam Shahhoseini |
| Affiliation: | 1. Department of Molecular Genetics, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran Reproductive Epidemiology Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran;2. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran;3. Reproductive Epidemiology Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran;4. Reproductive Epidemiology Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran |
| Abstract: | HIST1H1T encodes H1T, a testicular variant of histone H1, which is expressed during spermatogenesis especially in primary spermatocytes and facilitates histone to protamine exchanges during maturation of spermatozoa. The goal of the conducted research was to evaluate four genetic variations of HIST1H1T in men with nonobstructive azoospermia. This case–control study was conducted among a total number of 200 men, including 100 nonobstructive azoospermic (NOA) infertile men. In this study, three single-nucleotide polymorphisms, including c.-54C>T (rs72834678), c.-912A>C (rs707892) and c.-947A>G (rs74293938) in regulatory region as well as one SNP c.40G>C (rs198844) in coding region were identified using PCR sequencing. According to statistical analysis, none of those SNPs in regulatory regions showed significant differences in case and control groups. For SNP (c.40G>C), a significantly higher frequency of C allele in the case group was observed compared to the control group (p-value: .044). In conclusion, according to statistical analysis it seems that the polymorphism of c.40G>C is not associated with nonobstructive azoospermia. |
| Keywords: | azoospermia genetic variation HIST1H1T male infertility spermatogenesis failure |