Association study of SPATA-16 polymorphism with male infertility in Iranian population

Abstract

IntroductionIt is estimated that about 15% of couples are confronted with the inability to conceive after 1year of unprotected intercourse. Genetic and environmental factors are the most important reasons that affect male infertility. SPATA16 is encoded by a gene that maps to human chromosome 3q26. The c.848G>A mutation has been predicted to change an amino acid of a highly conserved residue (p.R283Q). In addition, the c.848G>A mutation affects the last nucleotide of exon 4, and may disrupt the 5′ splice site of intron 4. Our purpose was to study association of individuals with globozoospermia and teratozzospermia and SNP rs137853118 located in exon 4 of SPATA-16 gene. MethodsDNA samples of 130 infertile couples suffered from teratozoospermia, globozoospermia, and 110 control individuals were collected from Royan institute. SNP genotyping was performed by PCR-RFLP technique following sequencing exon 4 region of SPATA-16 gene. ResultsThe rs137853118 SNP showed no polymorphism in patients and controls according to sequencing and statistical analysis. ConclusionsSPATA16 studied SNP did not exist in Iranian population and has no significant relation with globozoospermia infertility, although further studies on more samples are demanded. Furthermore, the study of genetic parameters did not show genetic variation between case and control individuals.