OBJECTIVE: To analyze and evaluate 4 single nucleotide polymorphisms (SNPs)-T132903C, C109869T, T824C, and T886C- and their correlation to the idiopathic Persian (Iranian) infertile male with oligospermia and azoospermia. STUDY DESIGN: A total of 96 idiopathic infertile male patients and 100 normal fertile men (controls) were included in the study. SNP analysis was performed using Real-Time High Resolution Melt analysis (PCR-HRM). Results were confirmed using PCR-RFLP and DNA sequencing analysis. RESULTS: The frequency of 2 SNPs, T132903C in INSR and C109869T in SLC6A14, were statistically different in the infertile males as compared to the control males (p < 0.02 for T132903C and p < 0.04 for C109869T). The SNP frequency for T824C in OR2W3 and T886C in TAS2R38 were similar in the infertile men and the control group with p values of < 0.2 for the T824C and p < 0.9 for T886C SNPs, respectively. CONCLUSION: Our results indicate a significant correlation between T132903C and C109869T SNPs in the INSR and SLC6A14 genes with idiopathic infertility in Persian males. These SNPs may also play a role in defects in spermatogenesis (oligospermia and azoospermia). Our study on Persian infertile, male patients was surprisingly consistent with what others have reported for the European male population. Such similarity might indicate a solid and crucial involvement of these SNPs in idiopathic male infertility in general.
OBJECTIVE: To analyze and evaluate 4 single nucleotide polymorphisms (SNPs)-T132903C, C109869T, T824C, and T886C- and their correlation to the idiopathic Persian (Iranian) infertile male with oligospermia and azoospermia. STUDY DESIGN: A total of 96 idiopathic infertile malepatients and 100 normal fertile men (controls) were included in the study. SNP analysis was performed using Real-Time High Resolution Melt analysis (PCR-HRM). Results were confirmed using PCR-RFLP and DNA sequencing analysis. RESULTS: The frequency of 2 SNPs, T132903C in INSR and C109869T in SLC6A14, were statistically different in the infertile males as compared to the control males (p < 0.02 for T132903C and p < 0.04 for C109869T). The SNP frequency for T824C in OR2W3 and T886C in TAS2R38 were similar in the infertile men and the control group with p values of < 0.2 for the T824C and p < 0.9 for T886C SNPs, respectively. CONCLUSION: Our results indicate a significant correlation between T132903C and C109869T SNPs in the INSR and SLC6A14 genes with idiopathic infertility in Persian males. These SNPs may also play a role in defects in spermatogenesis (oligospermia and azoospermia). Our study on Persian infertile, male patients was surprisingly consistent with what others have reported for the European male population. Such similarity might indicate a solid and crucial involvement of these SNPs in idiopathic male infertility in general.
Authors: Laura Governini; Bianca Semplici; Valentina Pavone; Laura Crifasi; Camilla Marrocco; Vincenzo De Leo; Elisabeth Arlt; Thomas Gudermann; Ingrid Boekhoff; Alice Luddi; Paola Piomboni Journal: J Clin Med Date: 2020-01-18 Impact factor: 4.241