Background:The p.Val142Ile variant, predominantly found among people of African descent, is the most common cause of variant transthyretin amyloidosis and carriers predominantly develop a cardiomyopathy (variant transthyretin amyloidosis cardiomyopathy) phenotype. Yet, there are conflicting data on the prevalence and outcomes of p.Val142Ile variant carriers.Methods:We performed a systematic review of the prevalence and outcomes of p.Val142Ile variant transthyretin amyloidosis cardiomyopathy among subjects of African descent. We found 62 relevant articles after searching the MEDLINE databases from 1980 to 2020 that reported data for ≈150 000 subjects.Results:The reported worldwide prevalence of the p.Val142Ile variant is 0.3% to 1.6% in the general population. Among people of African descent, the reported prevalence from all studies ranges from 1.1% to 9.8%, but for studies with >1000 subjects, it is 3% to 3.5%. The prevalence of the p.Val142Ile variant in a region is dependent on the reported percentage of subjects who are of African descent in that region. p.Val142Ile variant transthyretin amyloidosis cardiomyopathy typically presents in the seventh to eighth decade of life and the majority of cases reported were male, with 25% to 38% diagnosed with atrial fibrillation. It was associated with a longitudinally worse quality of life and a lower adjusted survival compared with other types of transthyretin amyloidosis cardiomyopathy.Conclusions:The p.Val142Ile variant is the most common variant of the transthyretin gene with most carriers being of African descent. The true penetrance is unknown but the p.Val142Ile variant is associated with increased rates of incident heart failure and portends a lower overall survival. Increased awareness could lead to earlier diagnosis and improved heart failure outcomes among those of African descent, which is of increasing importance given the advent of novel therapeutics for this disease.

中文翻译：

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p.Val142Ile TTR 淀粉样变性心肌病的患病率和结局：系统评价

背景：p.Val142Ile 变异主要在非洲裔人群中发现，是变异型转甲状腺素蛋白淀粉样变性最常见的原因，携带者主要发展为心肌病（变异型转甲状腺素蛋白淀粉样变性心肌病）表型。然而，关于 p.Val142Ile 变异携带者的患病率和结果存在相互矛盾的数据。方法：我们对非洲裔受试者中 p.Val142Ile 变异转甲状腺素蛋白淀粉样变性心肌病的患病率和结果进行了系统评价。在搜索 1980 年至 2020 年的 MEDLINE 数据库后，我们发现了 62 篇相关文章，这些文章报告了大约 150 000 名受试者的数据。结果：据报道，p.Val142Ile 变体在普通人群中的全球流行率为 0.3% 至 1.6%。在非洲人后裔中，所有研究报告的患病率范围为 1。1% 至 9.8%，但对于超过 1000 名受试者的研究，为 3% 至 3.5%。p.Val142Ile 变体在一个地区的流行率取决于该地区非洲裔受试者的报告百分比。p.Val142Ile 变异型转甲状腺素蛋白淀粉样变性心肌病通常出现在 7 至 80 岁，报告的大多数病例为男性，25% 至 38% 被诊断为心房颤动。与其他类型的转甲状腺素蛋白淀粉样变性心肌病相比，它与纵向较差的生活质量和较低的调整生存率有关。结论：p.Val142Ile 变体是转甲状腺素蛋白基因最常见的变体，大多数携带者是非洲人后裔。真正的外显率是未知的，但 p。Val142Ile 变异与心力衰竭发生率增加有关，并预示着较低的总体生存率。提高认识可能会导致非洲人后裔的早期诊断和改善心力衰竭结果，鉴于这种疾病的新疗法的出现，这一点变得越来越重要。