rs4143094

badMag 3.5

This is a intergenic variant variant in the GATA3 gene.

Key Literature Trait Associations

Colorectal Cancer Risk

The T allele at rs4143094 on chromosome 10p14 near GATA3 was identified through a genome-wide diet-gene interaction analysis of 9,287 colorectal cancer cases and 9,117 controls from the GECCO consortium. A significant gene-diet interaction was found with processed meat consumption, where TG heterozygotes had OR 1.20 and TT homozygotes had OR 1.39 for colorectal cancer risk.

Figueiredo JC et al. “Genome-wide diet-gene interaction analyses for risk of colorectal cancer.” Plos Genetics 10(4):e1004228 (2014)
Allele T
OR 1.17
p 8.7e-9
Large GWAS

Childhood rhinitis and atopy

A birth cohort study in 923 children identified rs4143094 as one of four GATA3 and IL13 polymorphisms forming a predictive model for childhood rhinitis and positive skin prick test results at age 10. The variant contributed to a significant gene-gene interaction pattern between GATA3 and IL13, but specific per-allele odds ratios for rs4143094 alone were not reported. Evidence is limited to a single small study, and rs4143094 was not independently significant — its effect is embedded within a multi-locus haplotype model. This association should be considered exploratory.

Huebner M et al. “Patterns of GATA3 and IL13 gene polymorphisms associated with childhood rhinitis and atopy in a birth cohort.” The Journal of Allergy and Clinical Immunology (2008)
Allele T
OR —
p 4.4e-2
N 923
Preliminary work
European
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GWAS Catalog Trait Associations (1)

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

diet measurement, colorectal cancer

Figueiredo JC et al. “Genome-wide diet-gene interaction analyses for risk of colorectal cancer.” Plos Genetics 10(4):e1004228 (2014)
Allele T
OR 1.17
p 9.0e-9
N 18,404
Large GWAS
European

Gene information from NCBI Gene. Variant classifications from ClinVar.

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