Targeted sequencing of selected functional genes in patients with wild-type transthyretin amyloidosis.

ABSTRACT:

Objective

Wild-type transthyretin (ATTRwt) amyloidosis is caused by the misfolding and deposition of the transthyretin protein (TTR) in the absence of mutations in the TTR gene. Studies regarding the variant form of ATTR amyloidosis (ATTRv) suggest that the presence of single-nucleotide polymorphisms (SNP) in genes other than the TTR, may influence the development of the disease. However, other genetic factors involved in the aetiopathogenesis of ATTRwt are currently unknown. This work investigates the presence of sequence variants in genes selected for their possible impact on ATTRwt amyloidosis. To do so, targeted sequencing of 84 protein-coding genes was performed in a cohort of 27 patients diagnosed with ATTRwt.

Results

After applying quality and frequency filtering crit

SUBMITTER: Moreno-Gazquez I 

PROVIDER: S-EPMC10546623 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature