title: Association of the gonadotrophin-regulated testicular RNA helicase gene polymorphism with human male infertility.
abstract: Gonadotrophin-regulated testicular RNA helicase (GRTH) plays an important role in RNA functions including nuclear transcription, pre-mRNA splicing and it regulates the translation of specific genes required for the progression of spermatogenesis. In this study, we analysed the association of GRTH gene IVS6+55G/T and c.852C/T polymorphisms with human male infertility. The study showed c.852 T allele was associated with an increased risk of male infertility (OR: 3.16, P = 0.008), whereas IVS6+55G/T allele conferred no risk. In Indian population, this is the first report on association of GRTH gene SNP polymorphism and male infertility and it underscores the significance of GRTH genotypes in modulating the risk of male infertility.
authors.affiliation: Department of Molecular and Human Genetics, Banaras Hindu University, Varanasi, India.
authors.forename: D
authors.initials: D
authors.lastname: Jaiswal
authors.forename: S
authors.initials: S
authors.lastname: Trivedi
authors.forename: N K
authors.initials: NK
authors.lastname: Agrawal
authors.forename: K
authors.initials: K
authors.lastname: Singh
mesh_terms: D000328:Adult; D053713:Azoospermia / Q000201:enzymology* / Q000235:genetics*; D016022:Case-Control Studies; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005787:Gene Frequency; D056726:Genetic Association Studies; D006239:Haplotypes; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D013091:Spermatogenesis / Q000235:genetics
chemical_list: C510069:DDX25 protein, human; D053487:DEAD-box RNA Helicases
keywords: Apoptosis; GRTH; genotype; meta-analysis; mutation