Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.

ABSTRACT: Transthyretin amyloidosis (ATTR amyloidosis) is a rare disease characterised by extracellular deposition of amyloid fibrils composed by transthyretin. ATTR amyloidosis can be sub-classified as wild-type ATTR (ATTR-wt) or as hereditary amyloidosis (ATTR-m); the prevalence of both types are likely underestimated. There are tools that can help us to study ATTR-m, as gnomAD database. Our primary aim was to estimate prevalence of variants, especially amyloidogenic variants, in the TTR gene using gnomAD database. We analysed TTR missense variants found in gnomAD. The variables studied were classified according to their clinical significance and according to the different populations. We found 71 missense variants in the TTR gene. Eleven variants were described as affects function variants (preva

SUBMITTER: Lahuerta Pueyo C 

PROVIDER: S-EPMC6461877 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature