title: Single nucleotide polymorphisms of the GJB2 and GJB6 genes are associated with autosomal recessive nonsyndromic hearing loss.
abstract: Single nucleotide polymorphisms (SNPs) are important markers in many studies that link DNA sequence variations to phenotypic changes; such studies are expected to advance the understanding of human physiology and elucidate the molecular basis of diseases. The DFNB1 locus, which contains the GJB2 and GJB6 genes, plays a key role in nonsyndromic hearing loss. Previous studies have identified important mutations in this locus, but the contribution of SNPs in the genes has not yet been much investigated. The aim of this study was to investigate the association of nine polymorphisms located within the DFNB1 locus with the occurrence of autosomal recessive nonsyndromic hearing loss (ARNSHL). The SNPs rs3751385 (C/T), rs7994748 (C/T), rs7329857 (C/T), rs7987302 (G/A), rs7322538 (G/A), rs9315400 (C/T), rs877098 (C/T), rs945369 (A/C), and rs7333214 (T/G) were genotyped in 122 deaf patients and 132 healthy controls using allele-specific PCR. There were statistically significant differences between patients and controls, in terms of allelic frequencies in the SNPs rs3751385, rs7994748, rs7329857, rs7987302, rs945369, and rs7333214 (P < 0.05). No significant differences between the two groups were observed for rs7322538, rs9315400, and rs877098. Our results suggest that SNPs present in the GJB2 and GJB6 genes may have an influence on ARNSHL in humans.
authors.affiliation: Laboratory of Genetics and Molecular Biology, Graduate Program in Biomedical Sciences, Centro Universitário Hermínio Ometto (UNIARARAS), Avenida Maximiliano Barutto No. 500, Jardim Universitário, 13607339 Araras, SP, Brazil.
authors.forename: Ana Paula
authors.initials: AP
authors.lastname: Grillo
authors.affiliation: School of Biology, Centro Universitário Hermínio Ometto (UNIARARAS), 13607339 Araras, SP, Brazil.
authors.forename: Flávia Marcorin
authors.initials: FM
authors.lastname: de Oliveira
authors.affiliation: School of Biomedicine, Centro Universitário Hermínio Ometto (UNIARARAS), 13607339 Araras, SP, Brazil.
authors.forename: Gabriela Queila
authors.initials: GQ
authors.lastname: de Carvalho
authors.affiliation: School of Biomedicine, Centro Universitário Hermínio Ometto (UNIARARAS), 13607339 Araras, SP, Brazil.
authors.forename: Ruan Felipe Vieira
authors.initials: RF
authors.lastname: Medrano
authors.affiliation: Center of Molecular Biology and Genetic Engineering (CBMEG), Molecular Biology Laboratory, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Sueli Matilde
authors.initials: SM
authors.lastname: da Silva-Costa
authors.affiliation: Center of Molecular Biology and Genetic Engineering (CBMEG), Molecular Biology Laboratory, State University of Campinas (UNICAMP), 13083-970 Campinas, SP, Brazil.
authors.forename: Edi Lúcia
authors.initials: EL
authors.lastname: Sartorato
authors.affiliation: Laboratory of Genetics and Molecular Biology, Graduate Program in Biomedical Sciences, Centro Universitário Hermínio Ometto (UNIARARAS), Avenida Maximiliano Barutto No. 500, Jardim Universitário, 13607339 Araras, SP, Brazil.
authors.forename: Camila Andréa
authors.initials: CA
authors.lastname: de Oliveira
mesh_terms: D000072259:Connexin 26; D000075302:Connexin 30; D017630:Connexins / Q000235:genetics*; D003638:Deafness / Q000235:genetics; D005260:Female; D030342:Genetic Diseases, Inborn / Q000235:genetics*; D056426:Genetic Loci; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide
chemical_list: D000075302:Connexin 30; D017630:Connexins; C000607042:GJB2 protein, human; C491020:GJB6 protein, human; D000072259:Connexin 26