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Background  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.    Methods  A 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.    Results  A 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).    Conclusions  The 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.

A systematic review and meta-analysis of 235delC mutation of GJB2 gene