Abstract
BackgroundThe 235delC mutation of GJB2 gene is considered as a risk factor for the non-syndromic hearing loss (NSHL), and a significant difference in the frequency and distribution of the 235delC mutation has been described world widely.MethodsA systematic review was performed by means of a meta-analysis to evaluate the influence of the 235delC mutation on the risk of NSHL. A literature search in electronic databases using keywords “235delC”, “GJB2” associated with “carrier frequency” was conducted to include all papers from January 1999 to June 2011. A total of 36 papers were included and there contained 13217 cases and 6521 controls derived from Oceania, American, Europe and Asian.ResultsA remarkable heterogeneity between these studies was observed. The combined results of meta-analysis showed that the 235delC mutant increased the risk of NSHL (OR = 7.9, 95%CI 4.77 ~ 13.11, P <0.00001). Meanwhile, heterogeneity of genetic effect was also observed due to the ethnic specificity and regional disparity. Therefore, the stratified meta-analysis was subsequently conducted and the results indicated that the 235delC mutation was significantly correlated with the risk of NHSL in the East Asian and South-east Asian populations (OR = 12.05, 95%CI 8.33~17.44, P <0.00001), but not significantly in the Oceania and European populations (OR = 10.36, 95%CI: 4.68~22.96, Z = 1.68, P >0.05).ConclusionsThe 235delC mutation of GJB2 gene increased the risk of NHSL in the East Asian and South-east Asian populations, but non-significantly associated with the NSHL susceptibility in Oceania and European populations, suggesting a significant ethnic specificity of this NSHL-associated mutation.
Highlights
Hearing impairment is the most common sensory disorder, present in 1 of every 1000 newborns, about half of which could be attributed to genetic factors [1]
The investigation on heterogeneity in genetic association were commonly leveled to the genetic effect and genetic model: the genetic effect focused on the difference in study method, potential interaction of gene-gene or gene-environment and linkage disequilibrium [13], while the genetic model was mainly concerned with the differential association between heterozygote and the risk of human diseases
A systematic review was performed by means of a metaanalysis to evaluate the influence of the 235delC mutation on the non-syndromic hearing loss (NSHL) susceptibility
Summary
Hearing impairment is the most common sensory disorder, present in 1 of every 1000 newborns, about half of which could be attributed to genetic factors [1]. More than 70 loci for nonsyndromic hearing loss (NSHL) had been identified (http://hereditaryhearingloss.org/). DFNB1 was considered to be the main cause of prelingual deafness. More than a hundred different mutations of this gene has been implicated in NSHL [2]. The most common mutations of GJB2 gene comprised 35delG, 167delT and 235delC with the varied incidence among populations [2]. The 235delC mutation of GJB2 gene is considered as a risk factor for the non-syndromic hearing loss (NSHL), and a significant difference in the frequency and distribution of the 235delC mutation has been described world widely
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