Identification of genetic variants associated with clinical features of sickle cell disease.

ABSTRACT: Sickle cell disease (SCD) is an inherited blood disorder marked by homozygosity of hemoglobin S, which is a defective hemoglobin caused by a missense mutation in the β-globin gene. However, clinical phenotypes of SCD vary among patients. To investigate genetic variants associated with various clinical phenotypes of SCD, we genotyped DNA samples from 520 SCD subjects and used a genome-wide association study (GWAS) approach to identify genetic variants associated with phenotypic features of SCD. For HbF levels, the previously reported 2p16.1 locus (BCL11A) reached genome significance (rs1427407, P = 8.58 × 10^-10) in our GWAS as expected. In addition, we found a new genome-wide significance locus at 15q14 (rs8182015, P = 2.07 × 10^-8) near gene EMC7. GWAS of acute chest s

SUBMITTER: Tsukahara K 

PROVIDER: S-EPMC11362596 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature