Association between the p.V37I variant of GJB2 and hearing loss: a pedigree and meta-analysis

Na Shen _, Jing Peng, Xiong Wang, Yaowu Zhu, Weiyong Liu, Aiguo Liu and Yanjun Lu

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Oncotarget. 2017; 8:46681-46690. https://doi.org/10.18632/oncotarget.17325

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Na Shen1, Jing Peng1, Xiong Wang1, Yaowu Zhu1, Weiyong Liu1, Aiguo Liu2 and Yanjun Lu1

1Department of Laboratory Medicine, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China

2Department of Otorhinolaryngology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China

Correspondence to:

Aiguo Liu, email: [email protected]

Yanjun Lu, email: [email protected]

Keywords: hearing loss (HL), GJB2, p.V37I, pedigree analysis, meta-analysis

Received: February 03, 2017     Accepted: March 19, 2017     Published: April 21, 2017


Pathogenic variants in the gap junction protein beta-2 (GJB2) gene are the most common cause of hearing loss. Of these, the p.V37I variant of GJB2 has a high allele frequency (up to 10%) in East Asians. Characterization of the phenotypic spectrum associated with p.V37I, as well as the role of this variant in the onset of hearing loss could have a remarkable effect on future diagnostic strategies. Here, we performed a pedigree analysis of unrelated families exhibiting various hearing phenotypes, and then conducted a meta-analysis to comprehensively assess the association between the p.V37I and the risk of hearing loss. Pedigree analyses showed that both homozygous p.V37I variants, as well as compound heterozygous p.V37I with other GJB2 pathogenic variants, contributed to various phenotypes of hearing loss. Meanwhile, meta-analysis demonstrated that, compared with those in the wild type group, both p.V37I homozygotes and compound heterozygous p.V37I variants were at significantly higher risk of developing hearing loss (odds ratios = 7.14 and 3.63; 95% confidence intervals = 3.01-16.95 and 1.38–9.54, respectively). Conversely, heterozygous p.V37I variants alone did not increase the risk of hearing loss. Given the high allele carriage rate of p.V37I (up to 10%) within the general population, our work not only provides information that might influence future genetic screening policies, but also offers insight into clinical risk evaluation and genetic counseling regarding hearing loss.

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