rs2259571
This variant is located in the AIF1 gene.
▶Research that mentions this SNP (1)
▶A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibilityAssociationN=2,162Mahamadou Diakite et al.(2009)· Human Genetics
A case-control association study of 2162 Gambian individuals identified a BAT2 polymorphism (rs1046089) significantly associated with severe malaria (G vs A OR=0.73, P<10⁻⁶ for allelic test; recessive model GG vs GA/AA OR=0.48, P<10⁻⁶). Haplotype analysis confirmed BAT2-associated variants conferred ~40% reduced risk. Secondary findings included AIF1 (rs2259571, OR=0.57, P=0.004) and TNF-238 (rs361525, OR=1.33, P=0.04) associations, though only BAT2 remained significant after Bonferroni correction.
About AIF1
This gene encodes a protein that binds actin and calcium. This gene is induced by cytokines and interferon and may promote macrophage activation and growth of vascular smooth muscle cells and T-lymphocytes. Polymorphisms in this gene may be associated with systemic sclerosis. Alternative splicing results in multiple transcript variants, but the full-length and coding nature of some of these variants is not certain. [provided by RefSeq, Jan 2016]
View all AIF1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
Community Wiki
No community notes yet for this variant. Sign in to start one.
Comments
Sign in to join the discussion.
Loading comments…