association of two polymorphisms in h2b.w gene with azoospermia and severe oligozoospermia in an iranian population

background: during spermatogenesis, the h2b family, member w (h2b.w) gene, encodes a testis specific histone that is co-localized with telomeric sequences and has the potential role to mediate the sperm-specific chromatin remodeling. previously h2b.w genetic variants were reported to be involved in susceptibility to spermatogenesis impairment. in the present study, two single nucleotide polymorphisms (snps) in 5΄utr and exon 1 of h2b.w gene were examined to investigate possible association of these polymorphisms with male infertility in iranian population. materials and methods: this case control study was conducted in royan institute during four-year period (2010–2013). genetic alteration of two snps loci, −9c>t and 368a>g, in h2b.w gene were indicated in 92 infertile men who were divided into two main groups including azoospermia (n=46) and sever oligozoospermia (n=46), while there was 60 fertile men as control group. azoosperima was also divided into three sub-groups including sertoli cell only syndrome (scos, n=21), complete maturation arrest (cma, n=17) and hypo spermatogenesis (n=8) according to testicular biopsy. for analysis, polymerase chain reaction-restriction fragment length polymorphism (pcr-rflp) technique was applied. results: the frequency of allele −9t was significantly higher in cma group than in patients with scos (p<0.05). the haplotype ta (corresponding to simultaneous occurrence of −9t and 368a) compared with haplotype ca (corresponding to simultaneous occurrence of −9c and 368a) in patients suffering from cma significantly increased, compared with patients had scos (p<0.05). however, statistical studies indicated that in general, the distribution frequencies of −9c>t and 368a>g had no significant difference between the infertile groups and control (p=0.859 and p=0.812, respectively). conclusion: this investigation showed that snp −9c>t might be contribute to cma in azoospermic patients and snp 368a>g had no correlation with male infertility in iranian population.