The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis
We conducted a meta-analysis assessing the association between the p.P240L (c.C719T) variant and the risk of nonsyndromic hearing loss (NSHL).
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.
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.
The p.P240L variant increased the risk of NHSL in Asian populations, suggesting a remarkable ethnic specificity linked with susceptibility to this mutation.
KeywordsCDH23 Hearing loss Asian Mutation
The authors exclude any relevant financial activities outside the submitted work.
Compliance with ethical standards
Conflict of interest
The authors declare no conflict of interest. This research did not receive any specific grant from funding agencies in the public, commercial, or not-for-profit sectors.
All procedures performed in this study involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. There was no evaluation or vote of an Ethical Committee necessary because this study was designed as a meta-analysis.
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