rs1127348

This variant is located in the BLTP1 gene.

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GWAS Catalog Trait Associations (1)

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

mosquito bite reaction itch intensity measurement

Jones AV et al. “GWAS of self-reported mosquito bite size, itch intensity and attractiveness to mosquitoes implicates immune-related predisposition loci.” Human Molecular Genetics 26(7):1391-1406 (2017)

Allele T

OR 0.03

p 4.0e-9

N 84,724

Large GWAS

European

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ClinVar annotation

Benign★☆☆☆

1 submitter

View on ClinVar →

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Research that mentions this SNP (1)

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Fine-mapping and transethnic genotyping establish IL2/IL21 genetic association with lupus and localize this genetic effect to IL21

AssociationN=15,529Travis Hughes et al.(2011)· Arthritis & Rheumatism

This study fine-maps the IL2/IL21 genetic association with systemic lupus erythematosus (SLE) in two large independent sample sets: European-derived (4,248 lupus patients, 3,818 controls) and African-American (1,569 patients, 1,893 controls). Using conditional analysis and trans-ethnic mapping, the researchers localized the primary genetic effect to two SNPs in high linkage disequilibrium: rs907715 within IL21 (OR=1.16, 95% CI 1.10-1.22, P=2.17×10⁻⁸) and rs6835457 in the 3'-UTR flanking region of IL21 (OR=1.11, 95% CI 1.05-1.17, P=9.35×10⁻⁵). The findings establish genome-wide significance for the IL2/IL21 locus in lupus genetic susceptibility.

Traits studied:LupusSystemic lupus erythematosus

PubMed DOI Metascience Observatory

About BLTP1

This gene is located on the long arm of chromosome 4 in a region that is associated with susceptibility to celiac disease. The encoded protein is similar to a Chinese hamster protein that is associated with spermatocyte and adipocyte differentiation. The C-terminus of the protein is also similar to a Caenorhabditis elegans protein that plays a role in lipid storage. In mammals, this protein is thought to function in the regulation of epithelial growth and differentiation, and in tumor development. [provided by RefSeq, Oct 2009]