Purpose: We conducted a meta-analysis assessing the association between the p.P240L (c.C719T) variant and the risk of nonsyndromic hearing loss (NSHL).
Methods: Literatures that reported prevalence rates were identified using PubMed, EMBASE, OVID, Cochrane library, Web of Science, Chinese National Knowledge Infrastructure, Wanfang Databases for the period from inception to August 2017. Random and fixed effects models were used to generate pooled ORs and I2 values. The heterogeneity assumption decided the effect model.
Results: A total of four relevant studies were included in the meta-analysis. The results of meta-analysis indicated that the p.P240L variant was correlated with the risk of NHSL in Asian populations (OR = 10.17, 95% CI = 2.74-37.82, P = 0.001). The T allele of p.P240L was associated with a 12-fold higher risk of NSHL than the C allele (OR = 11.68; 95% CI = 3.16-43.24, P < 0.001). Specifically, p.P240L heterozygotes (OR = 8.49; 95% CI = 2.28-31.59, P = 0.001), had a significantly higher risk of NSHL. Publication bias of our meta-analysis was attributed to the limited availability of relevant results and the number of studies included in our meta-analysis was relatively small.
Conclusions: The p.P240L variant increased the risk of NHSL in Asian populations, suggesting a remarkable ethnic specificity linked with susceptibility to this mutation.
Keywords: Asian; CDH23; Hearing loss; Mutation.