Yongsheng Zheng, Chong Sun, Bingyou Liu, Jianian Hu, Haofeng Chen, Chongbo Zhao, Zhang Victor Wei, Jie Lin
Department of Neurology, Huashan Hospital Fudan University, Shanghai, China.
Amcarelab Genetic Commercial Company, Guangzhou, China.
Front Genet. 2023 Apr 13;14:1126836. doi: 10.3389/fgene.2023.1126836. eCollection 2023.
Amyloid transthyretin (ATTR) is divided into either hereditary (ATTRv) or sporadic (ATTRwt) and ATTRv is a rare hereditary disease transmitted as an autosomal dominant manner. Its global prevalence is traditionally estimated as 5,000 to 10,000 persons. However, it may be underestimated and the exact prevalence of ATTRv in China mainland remains unknown. The Genome Aggregation database (gnomAD) database (containing 125,748 exomes) and two genomic sequencing databases--China Metabolic Analytics Project (ChinaMAP) (containing 10588 individuals) and Amcarelab gene database (containing 45392 exomes), were integrated to estimate the prevalence of ATTRv in the world and mainland Chinese populations. Pathogenic variants allele frequency and the prevalence of ATTRv was calculated. Six variants, counting 470 alleles, were defined as pathogenic variants in gnomAD. The prevalence of ATTRv in the world population was 57.4/100,000. Two variants (2 allele counts) and 15 variants (34 individuals) were defined as pathogenic variants in the ChinaMAP database and the Amcarelab exome database, respectively. Thus, the estimated prevalence interval of ATTRv in mainland China was 18.9/100,000-74,9/100,000. The present study demonstrated that the previous prevalence was greatly underestimated using traditional methods. Therefore, raising awareness of the disease is essential for recognizing ATTRv in its early stage.
淀粉样变甲状腺素运载蛋白（ATTR）分为遗传性（ATTRv）或散发性（ATTRwt），ATTRv是一种罕见的常染色体显性遗传疾病。传统上估计其全球患病率为5000至10000人。然而，这一数字可能被低估，中国大陆ATTRv的确切患病率仍不清楚。整合基因组聚合数据库（gnomAD）（包含125748个外显子组）以及两个基因组测序数据库——中国代谢组学分析计划（ChinaMAP）（包含10588名个体）和安盛基因数据库（包含45392个外显子组），以估计全球和中国大陆人群中ATTRv的患病率。计算了致病变异等位基因频率和ATTRv的患病率。在gnomAD中，六个变异（共470个等位基因）被定义为致病变异。全球人群中ATTRv的患病率为57.4/10万。在中国代谢组学分析计划数据库和安盛基因外显子组数据库中，分别有两个变异（2个等位基因计数）和15个变异（34名个体）被定义为致病变异。因此，中国大陆ATTRv的估计患病率区间为18.9/10万至74.9/10万。本研究表明，使用传统方法大大低估了先前的患病率。因此，提高对该疾病的认识对于早期识别ATTRv至关重要。
