C1QA and C1QC modify age-at-onset in familial amyloid polyneuropathy patients.

ABSTRACT:

Objectives

Transthyretin (TTR) familial amyloid polyneuropathy (FAP) (OMIM 176300) shows a variable age-at-onset (AO), including within families. We hypothesized that variants in C1QA and C1QC genes, might also act as genetic modifiers of AO in TTR-FAP Val30Met Portuguese patients.

Methods

We analyzed DNA samples of 267 patients (117 families). To search for variants, all exons and flanking regions were genotyped by automated sequencing. We used generalized estimating equations (GEEs) to take into account the non-independency of AO among relatives. Intensive in silico analyses were performed, using various software to assess miRNAs target sites, splicing sites, transcription factor binding sites alterations, and gene-gene interactions.

Results

Two varian

SUBMITTER: Dias A 

PROVIDER: S-EPMC6469251 | biostudies-literature | 2019 Apr

REPOSITORIES: biostudies-literature