Variants in the β-globin locus are associated with pneumonia in African American children.

ABSTRACT: In African American adults, the strongest genetic predictor of pneumonia appears to be the A allele of rs334, a variant in the β-globin gene, which in homozygous form causes sickle cell disease (SCD). No comparable studies have been done in African American children. We performed genome-wide association analyses of 482 African American children with documented pneumonia and 2,048 African American control individuals using genotypes imputed from two reference panels: 1000 Genomes (1KG) (which contains rs334) and TOPMed (does not contain rs334). Using 1KG imputed genotypes, the most significant variant was rs334 (A allele; odds ratio [OR] = 2.76; 95% CI, 2.21-3.74; p = 5.9 × 10^-19); using TOPMed imputed genotypes the most significant variant was rs2226952, found in the β-globin lo

SUBMITTER: Halligan NLN 

PROVIDER: S-EPMC11664401 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature