Impact of Genetic Variations on Thromboembolic Risk in Saudis with Sickle Cell Disease.

ABSTRACT:

Background

Sickle cell disease (SCD) is a Mendelian disease characterized by multigenic phenotypes. Previous reports indicated a higher rate of thromboembolic events (TEEs) in SCD patients. A number of candidate polymorphisms in certain genes (e.g., FVL, PRT, and MTHFR) were previously reported as risk factors for TEEs in different clinical conditions. This study aimed to genotype these genes and other loci predicted to underlie TEEs in SCD patients.

Methodology

A multi-center genome-wide association study (GWAS) involving Saudi SCD adult patients with a history of TEEs (n = 65) and control patients without TEE history (n = 285) was performed. Genotyping used the 10× Affymetrix Axiom array, which includes 683,030 markers. Fisher's exact test was used to generate p-values of

SUBMITTER: Alshabeeb MA 

PROVIDER: S-EPMC10606407 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature