Association of β-defensin 126 gene alteration with ICSI and IVF outcome in unexplained infertile men

Abedini Marghzari, M.; Mohseni Meybodi, A.; Sabbaghian, M.; Nickhah, Z.; Asadpour, U.; Eftekhari-Yazdi, P.; Omani Samani, R.; Sadighi Gilani, M.; Gourabi, H.
June 2014
Iranian Journal of Reproductive Medicine;Jun2014 Supplement, Vol. 12, p85
Academic Journal
Introduction: Despite improved methods for evaluation sperm quality, infertility remains unexplained in about 20% of affected couples. During sperm maturation, a Cysteine-rich secretory glycoprotein β-defensin126 secreted by the epididymal epithelium adsorbed to the entire sperm surface. It remains on the sperm until sperm become capacitated in the female reproductive tract. Its removal from over the head of sperm is required for sperm zona recognition. A cytosine dinucleotide deletion in the open reading frame of second exon of DEFB126 gene generates an abnormal mRNA. Men homozygous for this mutation have reduced chance of successful fertilization. Materials and Methods: Genomic DNA from the peripheral blood of 80 male partners of unexplained couples who underwent ICSI (first group) and IVF (second group), were extracted. PCR was performed and molecular genotyping for the DEFB126 variant was done by SSCP (single strand conformational polymorphism), tetra PCR and DNA sequencing. ELISA performed for the assessment of this protein expression on sperm cells. Results: Statistical analysis shows, no significant differences were found between homozygote mutation and wild type carriers in fertilization rates, implantation rates and clinical pregnancy of IVF and ICSI. The protein expression was less in men with del/del genotype, compare to other genotypes (p<0.005). Conclusion: Although previous studies were found DEFB126 variation would affect sperm function and male fertility rate, in present study, no significant differences were found between homozygote mutation and wild type carriers in fertilization rates, implantation rates and clinical pregnancy of IVF and ICSI. Further confirmation in a larger scale study is needed.


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