rs2857597

This variant is located in the AIF1 gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

psoriasis

Zhang M et al. “Multi-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.” Journal of Translational Medicine 23(1):133 (2025)

Allele A

OR 0.21

p 2.0e-61

N 472,819

Meta-analysisLarge GWAS

multi-ancestry

body mass index

Schoeler T et al. “Participation bias in the UK Biobank distorts genetic associations and downstream analyses.” Nature Human Behaviour 7(7):1216-1227 (2023)

Allele T

OR 0.11

p 3.0e-15

N 283,749

Major Consortium StudyLarge GWAS

European

body fat percentage

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele A

OR 0.01

p 1.0e-19

N 394,642

Large GWAS

European

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]