Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
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DOI：
10.1097/md.0000000000002248
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发表时间：
2015-12
期刊：
影响因子：
1.6
通讯作者：
Cao X
中科院分区：
文献类型：
--
作者：
Lu YJ;Yao J;Wei QJ;Xing GQ;Cao X
补充数字内容可在文本中许多SLC 26 A4突变已被确定在患者与非综合征扩大前庭水管（伊娃）。然而，SLC 26 A4基因型和表型在遗传性耳聋中的作用仍然无法解释。本研究旨在基于PRISMA声明进行荟萃分析，以评估SLC 26 A4突变等位基因在伊娃患者中的诊断价值及其与多种族听力表型的相关性。对PubMed、Wiley Online Library、EMBASE、Web of Science和Science Direct数据库中2015年7月15日之前发表的文章进行了英文系统性文献检索。两名研究者独立审查检索到的文献并评价合格性。通过讨论和第三名研究者解决了分歧。采用Newcastle-Ottawa质量评估量表评价纳入研究的质量。使用随机效应或固定效应模型合成数据。通过测量比值比（OR）和95%置信区间（CI）估计效应量。25项合格研究涉及2294例病例，均具有伊娃数据。伊娃耳聋患者共发现272个SLC 26 A4变异，其中26个突变频率较高。总体OR为646.71（95%CI：383.30-1091.15，P = 0.000）。 在所有种族中，共有22个突变体被认为具有统计学意义（OR>1，P <0.05）。 其中，亚洲人群中有8个突变体具有伊娃表型特异性（OR>1，P <0.05），欧洲和北美人群中有4个突变体具有EVA表型特异性（OR>1，P <0.05），而在具有伊娃表型的人群中，SLC 26 A4的IVS 7 -2A>G突变频率最高（62.42%）。 在仅限于伊娃表型的研究中，11种突变体的相关风险（RR）均P <0.05，尤其是在耳聋人群中检测到的IVS 7 -2A>G双等位基因突变体（RR = 0.880，P = 0.000）。 SLC 26 A4突变结果的诊断准确性还确定了检测耳聋的IVS 7 -2A>G（AUC = 0.99，95% CI：0.97-0.99）和p.H723 R（AUC = 0.99，95% CI：0.98-1.00）与伊娃的显著相关性。 结论：SLC 26 A4的IVS 7 -2A>G和H723 R对耳聋人群中伊娃的临床诊断具有显著的预测价值和鉴别能力。
Supplemental Digital Content is available in the text Many SLC26A4 mutations have been identified in patients with nonsyndromic enlarged vestibular aqueduct (EVA). However, the roles of SLC26A4 genotypes and phenotypes in hereditary deafness remain unexplained. This study aims to perform a meta-analysis based on the PRISMA statement to evaluate the diagnostic value of SLC26A4 mutant alleles and their correlations with multiethnic hearing phenotypes in EVA patients. The systematic literature search of the PubMed, Wiley Online Library, EMBASE, Web of Science, and Science Direct databases was conducted in English for articles published before July 15, 2015. Two investigators independently reviewed retrieved literature and evaluated eligibility. Discrepancy was resolved by discussion and a third investigator. Quality of included studies was evaluated using Newcastle-Ottawa Quality Assessment Scale. Data were synthesized using random-effect or fixed-effect models. The effect sizes were estimated by measuring odds ratios (ORs) with 95% confidence interval (CI). Twenty-five eligible studies involved 2294 cases with EVA data. A total of 272 SLC26A4 variations were found in deafness with EVA and 26 mutations of SCL26A4 had higher frequency. The overall OR was 646.71 (95% CI: 383.30–1091.15, P = 0.000). A total of 22 mutants were considered statistically significant in all ethnicities (ORs >1, P < 0.05). In particular, 8 mutants were specificity of EVA phenotypes in mutations of SLC26A4 for Asia deafness populations (ORs >1, P < 0.05), 4 mutants for Europe and North America (ORs >1, P < 0.05), and the IVS7-2A>G mutations in SLC26A4 were found to have the highest frequency in deafness individuals with EVA phenotype (62.42%). Moreover, subgroups for studies limited to cases with EVA phenotype, 11 mutants relevant risks (RRs) were P < 0.05, especially for IVS7-2A>G bi-allelic mutants assayed in a deafness population (RR = 0.880, P = 0.000). Diagnostic accuracy of SLC26A4 mutation results also identified the significant association of IVS7-2A>G (AUC = 0.99, 95% CI: 0.97–0.99) and p.H723R (AUC = 0.99, 95% CI: 0.98–1.00) detecting deafness with EVA. To conclude, the IVS7-2A>G and H723R in SLC26A4 present a significant predicting value and discriminatory ability for clinical use on diagnosis of EVA within a deafness population.