Past Issue

Volume 9, Number 2, Jul-Sep 2015, Pages: 205-214

Association of Two Polymorphisms in H2B.W Gene with Azoospermia and Severe Oligozoospermia in An Iranian Population


Haleh Haji Ebrahim Zargar, M.Sc, 1, 2, Anahita Mohseni Meybodi, Ph.D, 2, Marjan Sabbaghian, Ph.D, 3, Maryam Shahhoseini, Ph.D, 2, Ummulbanin Asadpor, M.Sc, 2, Mohammad Ali Sadighi Gilani, M.D, 3, Mohammad Chehrazi, Ph.D, 4, Mansoureh Farhangniya, M.Sc, 1, 5, Seyed Abolhassan Shahzadeh Fazeli, M.D., Ph.D., 1, 2, 5, *,
Department of Molecular and Cellular Biology, Faculty of Basic Sciences and Advanced Technologies in Biology, University of Science and Culture, Tehran, Iran
Department of Genetics at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Department of Andrology at Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Department of Epidemiology and Reproductive Health at Reproductive Epidemiology Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran
Iranian Biological Resource Center (IBRC), ACECR, Tehran, Iran
* Corresponding Address: P.O.Box: 1551916111 Iranian Biological Resource Center (IBRC) ACECR Tehran Iran Email:fazeli@ibrc.ir

Abstract

Background

During spermatogenesis, the H2B family, member W (H2B.W) gene, en- codes 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 im- pairment. 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 includ- ing 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 frag- ment 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 occur- rence 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 azoo- spermic patients and SNP 368A>G had no correlation with male infertility in Iranian population.