Abstract：
OBJECTIVE: To assess the evidence supporting the heritability and genetic basis of sudden sensorineural hearing loss (SSNHL).
METHODS: Records were extracted from PubMed, Scopus, and Cochrane databases.
METHODS: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL. The search strategy yielded 1.483 articles from electronic databases. After quality assessment, 34 records were selected, including 369.650 patients with SSNHL from nine prevalence studies, two familial aggregation studies, one twin study, and 22 genetic studies. The prevalence of SSNHL was calculated from data on its incidence from population-based studies (period prevalence). To evaluate the heritability of SSNHL, the sibling recurrence risk ratio (λs) was calculated, by comparing the prevalence of SSNHL among siblings within the same generation to the estimated prevalence in the overall population. Genetic variants were grouped, based on the pathological mechanism related to SSNHL.
RESULTS: The prevalence of SSNHL ranged from 0.1% to 0.0003% in America to 0.12%-0.0093% in Asia. The estimated sibling recurrence risk ratio for SSNHL (λs = 20.8-83.3) supports a significant familial aggregation. Although several genetic variants were reported to be associated with SSHL in controlled studies, neither was replicated in an independent cohort.
CONCLUSIONS: Evidence supporting heritability of SSNHL is limited to epidemiological studies showing prevalence differences across different populations and familial aggregation. Genetic studies are of low quality and they lack replication cohort to confirm their findings. According to its low prevalence, exome or genome sequencing familial-based studies are needed to identify rare genetic variants in SSNHL.
METHODS: NA Laryngoscope, 134:3447-3457, 2024.
METHODS: Records were extracted from PubMed, Scopus, and Cochrane databases.
METHODS: The protocol was registered on PROSPERO (CRD42022357389) and includes a systematic review on the genetic contribution to SSNHL. The search strategy yielded 1.483 articles from electronic databases. After quality assessment, 34 records were selected, including 369.650 patients with SSNHL from nine prevalence studies, two familial aggregation studies, one twin study, and 22 genetic studies. The prevalence of SSNHL was calculated from data on its incidence from population-based studies (period prevalence). To evaluate the heritability of SSNHL, the sibling recurrence risk ratio (λs) was calculated, by comparing the prevalence of SSNHL among siblings within the same generation to the estimated prevalence in the overall population. Genetic variants were grouped, based on the pathological mechanism related to SSNHL.
RESULTS: The prevalence of SSNHL ranged from 0.1% to 0.0003% in America to 0.12%-0.0093% in Asia. The estimated sibling recurrence risk ratio for SSNHL (λs = 20.8-83.3) supports a significant familial aggregation. Although several genetic variants were reported to be associated with SSHL in controlled studies, neither was replicated in an independent cohort.
CONCLUSIONS: Evidence supporting heritability of SSNHL is limited to epidemiological studies showing prevalence differences across different populations and familial aggregation. Genetic studies are of low quality and they lack replication cohort to confirm their findings. According to its low prevalence, exome or genome sequencing familial-based studies are needed to identify rare genetic variants in SSNHL.
METHODS: NA Laryngoscope, 134:3447-3457, 2024.
摘要：
目的：评估支持突发性感音神经性耳聋（SSNHL）遗传和遗传基础的证据。
方法：记录是从PubMed中提取的，Scopus,和Cochrane数据库。
方法：该方案已在PROSPERO（CRD42022357389）上注册，并包括对SSNHL遗传贡献的系统评价。搜索策略从电子数据库中获得了1.483篇文章。经过质量评估，选择了34条记录，包括来自9项患病率研究的369.650例SSNHL患者，两项家族聚集性研究，一个双胞胎研究，22个基因研究SSNHL的患病率是根据基于人群的研究（期间患病率）的发病率数据计算得出的。为了评估SSNHL的遗传力，计算兄弟姐妹复发风险比(λs)，通过将同一代兄弟姐妹中SSNHL的患病率与总体人群中的估计患病率进行比较。遗传变异被分组，基于与SSNHL相关的病理机制。
结果：SSNHL的患病率在美国为0.1％至0.0003％，在亚洲为0.12％-0.0093％。SSNHL的估计同胞复发风险比（λs=20.8-83.3）支持显着的家族聚集。尽管在对照研究中报道了几种遗传变异与SSHL相关，两者均未在独立队列中重复.
结论：支持SSNHL遗传性的证据仅限于流行病学研究，这些研究显示了不同人群和家族聚集性的患病率差异。遗传研究质量低，缺乏复制队列来证实他们的发现。根据其患病率低，需要以外显子组或基因组测序为基础的家族研究来鉴定SSNHL中的罕见遗传变异.
方法：NA喉镜，2024.
方法：记录是从PubMed中提取的，Scopus,和Cochrane数据库。
方法：该方案已在PROSPERO（CRD42022357389）上注册，并包括对SSNHL遗传贡献的系统评价。搜索策略从电子数据库中获得了1.483篇文章。经过质量评估，选择了34条记录，包括来自9项患病率研究的369.650例SSNHL患者，两项家族聚集性研究，一个双胞胎研究，22个基因研究SSNHL的患病率是根据基于人群的研究（期间患病率）的发病率数据计算得出的。为了评估SSNHL的遗传力，计算兄弟姐妹复发风险比(λs)，通过将同一代兄弟姐妹中SSNHL的患病率与总体人群中的估计患病率进行比较。遗传变异被分组，基于与SSNHL相关的病理机制。
结果：SSNHL的患病率在美国为0.1％至0.0003％，在亚洲为0.12％-0.0093％。SSNHL的估计同胞复发风险比（λs=20.8-83.3）支持显着的家族聚集。尽管在对照研究中报道了几种遗传变异与SSHL相关，两者均未在独立队列中重复.
结论：支持SSNHL遗传性的证据仅限于流行病学研究，这些研究显示了不同人群和家族聚集性的患病率差异。遗传研究质量低，缺乏复制队列来证实他们的发现。根据其患病率低，需要以外显子组或基因组测序为基础的家族研究来鉴定SSNHL中的罕见遗传变异.
方法：NA喉镜，2024.
