Association of gjb2 gene mutations with non syndromic autosomal recessive deafness in different populations of the world


  • Shahid Hussain Mohammad Ali Jinnah University Islamabad
  • Mohammad Haroon Khan Mohammad Ali Jinnah University Islamabad
  • Muhammad Tahir Khan Mohammad Ali Jinnah University Islamabad
  • Shujah Zeb Mohammad Ali Jinnah University Islamabad
  • Muhammad Haseeb Mohammad Ali Jinnah University Islamabad
  • Asad Ullah Tariq Mohammad Ali Jinnah University Islamabad





Deafness, Conexin 26, GJB2, Meta-Analysis, NSHL.


Background: More than 90 variants of the GJB2 gene have been reported. Objectives: We analyzed the reported mutation data of hearing loss impairment from different countries through Meta-analysis to evaluate the influence of the mutations in GJB2 gene on the risk of NSHL and the differential distribution in its frequency as described in the previous studies. We were mainly concerned with the inclusion of dubious studies as they could lead to notorious outcomes. Methods: The data was retrieved from online databases with different keywords to include the data from 1997 to 2013. Full length papers were obtained wherever possible. A total of 22 case-control studies were included in the meta-analysis. Results: The analysis was performed for the total included data having 14254 patients and 9721/14254 patient cases with GJB2 mutation along with 3427 controls and 56/3427 mutant controls. Genetic association was measured by using the pooled odd ratios along with 95% CI (OR = 2.72, 95%CI: 2.48~2.97) by using the random effect model. The forest plot on the association of mutation carriers demonstrated that there was higher mutations prevalence in the case group. Most of the data points were located within 95%CI which indicates the association of mutation and increased risk of NSHL but showed variation within the regional disparity or ethnic specificity. Conclusions: The Meta-analysis was conducted in different ethnic group, the results showed a strong association of GJB2 mutations with the increased risk of hearing loss in the selected populations.


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