MARVELD2（DFNB49）新的 SNP 变体与中国人群中非综合征性听力损失相关。
New SNP variants of MARVELD2 (DFNB49) associated with non-syndromic hearing loss in Chinese population.
机构信息
Division of Medical Genetics and Genomics, the Children's Hospital, Zhejiang University School of Medicine, Hangzhou 310003, China.
Institute of Genetics, Zhejiang University, Hangzhou 310058, China.
出版信息
J Zhejiang Univ Sci B. 2019;20(2):164-169. doi: 10.1631/jzus.B1700185. Epub 2018 Nov 8.
Non-syndromic hearing loss (NSHL) is a common defect in humans. Variants of MARVELD2 at the DFNB49 locus have been shown to cause bilateral, moderate to profound NSHL. However, the role of MARVELD2 in NSHL susceptibility in the Chinese population has not been studied. Here we conducted a case-control study in an eastern Chinese population to profile the spectrum and frequency of MARVELD2 variants, as well as the association of MARVELD2 gene variants with NSHL. Our results showed that variants identified in the Chinese population are significantly different from those reported in Slovak, Hungarian, and Czech Roma, as well as Pakistani families. We identified 11 variants in a cohort of 283 NSHL cases. Through Sanger sequencing and bioinformatics analysis, we found that c.730G>A variant has detrimental effects in the eastern Chinese population, and may have relatively high correlation with NSHL pathogenicity.
非综合征性听力损失（NSHL）是人类常见的缺陷。DFNB49 位点 MARVELD2 的变异已被证明可导致双侧中度至重度 NSHL。然而，MARVELD2 在中国人 NSHL 易感性中的作用尚未得到研究。在这里，我们在中国东部人群中进行了病例对照研究，以分析 MARVELD2 变异的谱和频率，以及 MARVELD2 基因突变与 NSHL 的关联。我们的研究结果表明，在中国人群中发现的变异与在斯洛伐克、匈牙利和捷克罗姆以及巴基斯坦家庭中报道的变异有显著差异。我们在 283 例 NSHL 病例的队列中鉴定出 11 种变异。通过 Sanger 测序和生物信息学分析，我们发现 c.730G>A 变异在中国东部人群中具有有害影响，可能与 NSHL 的致病性具有相对较高的相关性。
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