Association of trinucleotide repeat polymorphisms CAG and GGC in exon 1 of the Androgen Receptor gene with male infertility: a cross-sectional study.

Background: Infertility is a global problem that brings with serious sexual and social consequences that strain the health sector and society. The expansion of CAG & GGC repeats in androgen receptor (AR) gene Ensembl number; ENSG00000169083 may leads to reduced fertility. Our objective was to determine association of CAG and GGC repeats with altered sperm parameters in male infertile subjects.

Materials And Methods: It was a cross sectional study conducted at Aga Khan University, Karachi Pakistan. A total of 376 males were recruited, out of which group A (N=208) and group B (N=168) comprised of subjects with normal and altered sperm parameters respectively from 18 to 60 years. Numbers of CAG and GGC repeats were determined by using PCR amplification and sequence analysis using Molecular Evolutionary Genetic Analysis (MEGA) software version 6.0. Statistical analysis was done using SPSS version 20 and p-value of < 0.05 were considered significant.

Results: The mean androgen receptor gene CAG repeats were significantly longer in males with altered sperm parameters as compared to male subjects with normal sperm parameters (p< 0.001). There was no significant difference found for GGC repeats for subjects with altered sperm parameters.

Conclusions: Longer CAG length corresponded to greater severity of spermatogenic defect and may lead to subfertility recommendations.