Profile of genetic variations in severely calcified carotid plaques by whole-exome sequencing.

ABSTRACT:

Background

The precise mechanisms of carotid calcification and its clinical significance have not been established.

Methods

We classified ten plaques from carotid endarterectomy patients into high- and low-calcified plaques based on the Agatston calcium scores. We performed whole-exome sequencing for genetic profiles with single nucleotide variations (SNVs), insertions, and deletions. Bioinformatic data mining was then conducted to disclose specific gene variations to either high- or low-calcified carotid plaques.

Results

In the carotid plaques, G:C>A:T/C:G>T:A transitions as SNVs, insT after C/insC after A as insertions, and delA after G/delT after C as deletions were most frequently observed, but no significant difference was observed between the high- and low-calci

SUBMITTER: Katano H 

PROVIDER: S-EPMC7538800 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature