1. Главная
  2. Ресурсы
  3. Библиотечный поиск
A systematic reviewand meta-analysis of235delC mutation ofGJB2 gene Jun YaoYajie LuQinjun Wei2012 год

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

Полный текстСтраница публикацииПубликация в OpenAlex
Аннотация: Abstract 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.
Год издания: 2012
Авторы: Jun Yao, Yajie Lu, Qinjun Wei, Xin Cao, Guangqian Xing
Издательство: BioMed Central
Источник: Journal of Translational Medicine
Ключевые слова: Hearing, Cochlea, Tinnitus, Genetics, Vestibular and auditory disorders, Connexins and lens biology
Другие ссылки: Journal of Translational Medicine (PDF)
Journal of Translational Medicine (HTML)
PubMed Central (HTML)
PubMed (HTML)