The aim of this study was to examine whether an association exists between glutathione S-transferase Mu-1 (GSTM1) gene polymorphism and idiopathic male infertility. Forty-two men with infertility and 43 fertile men were recruited for this study. GSTM1 gene was analysed using PCR technique. The frequency of GSTM1 null (-) genotype was observed to be 45.2% in infertile men as against 20.09% in fertile men. Subjects with the GSTM1 null genotype had lower sperm concentrations and motility when compared with the subjects with GSTM1-positive genotype in both the groups. This study shows that the frequency of GSTM1 null (-) genotype is significantly high in infertile males when compared with the frequency in fertile males (OR = 0.32, P = 0.017, 95% CI = 0.124-0.831).
Goldenhar syndrome is a very rare kind of syndromic deafness and is inherited as autosomal dominant. A study was taken up to understand the prevalence of this syndrome in children below the age of 14 years with hearing loss. Out of 1073 children with hearing impairment, Goldenhar syndrome was observed only in 1 (0.09%) case. The child suffered severe hearing loss. Facial paralysis and hemifacial microsomia were prominent features observed in the child. Facio-Auricular-Vertebral syndrome is therefore synonymously used with Goldenhar syndrome.
Previous studies have revealed that genetic factors may be involved in regulating the mechanism of infertility, e.g., MTHFR gene polymorphism in the development of male infertility. The aim of this study is to examine whether an association exists between MTHFR C677T polymorphism and male infertility. The study was carried out by means of a PCR-RFLP assay in 206 infertile men and 230 ethnically matched controls. The statistical analysis using two-sided Fisher's exact test and Pearson chi-squared test showed CT genotype is associated nonsignificantly with male infertility (OR = 1.19, 95% CI = 0.71-1.97). Because of the lack of TT homozygotes in the controls, a combined odds ratio of CT and TT homozygotes against the control has been calculated (OR = 1.36, 95% CI = 0.83-2.22), and the same was insignificant. The overall results of the study indicate that MTHFR C677T polymorphism is not associated with male infertility.
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