rs1057233

This is a regulatory region variant variant in the SPI1 gene.

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GWAS Catalog Trait Associations (1)

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

insomnia

Watanabe K et al. “Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways.” Nature Genetics 54(8):1125-1132 (2022)
Allele A
OR 0.01
p 3.0e-10
N 1,216,033
Meta-analysisLarge GWAS
European
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Research that mentions this SNP (1)

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Association of a functional polymorphism in the 3′-untranslated region of SPI1 with systemic lupus erythematosus
FunctionalKoki Hikami et al.(2011)· Arthritis &amp; Rheumatism

This computational study developed a novel algorithm to analyze how genetic variants (SNPs and indels) in microRNA binding sites affect miRNA target regulation. The authors analyzed 2,006,524 genetic variants in 3'UTRs from 2,016 genes and 677 validated miRNA-mRNA pairs, identifying 37,999 variants (2%) that could create, disrupt, or modify miRNA target sites. The findings confirm previously reported cancer-associated variants (e.g., rs2239680 increasing lung cancer risk, rs1042538 linked to breast cancer) and identify numerous novel variants potentially worthy of investigation for disease associations.

Traits studied:COVID-19Parkinson's diseasebreast cancercancerirritable bowel syndromelung cancerovarian cancersystemic lupus erythematosus
PubMedDOIMetascience Observatory

About SPI1

This gene encodes an ETS-domain transcription factor that activates gene expression during myeloid and B-lymphoid cell development. The nuclear protein binds to a purine-rich sequence known as the PU-box found near the promoters of target genes, and regulates their expression in coordination with other transcription factors and cofactors. The protein can also regulate alternative splicing of target genes. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

View all SPI1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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