rs8025774

This is a 3 prime utr variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (1)

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

vital capacity

Wyss AB et al. “Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function.” Nature Communications 9(1):2976 (2018)

Allele T

OR 20.87

p 9.0e-13

N 90,715

Meta-analysisLarge GWAS

multi-ancestry

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ClinVar annotation

Benign★☆☆☆

2 submitters1 publication

Aneurysm-osteoarthritis syndrome; Loeys-Dietz syndrome (LDS)

View on ClinVar →

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Research that mentions this SNP (1)

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Genetic variants in noncoding PIWI‐interacting RNA and colorectal cancer risk

AssociationN=280Haiyan Chu et al.(2015)· Cancer

This PhD thesis investigated pharmacogenetics of microRNAs and immune system genes in locally advanced rectal cancer (LARC) patients treated with neoadjuvant chemoradiotherapy. In 265 LARC patients, five SNPs were identified as predictive biomarkers of pathological response: DROSHA-rs10719 (OR=1.87, p=0.0274) and SMAD3-rs17228212 (OR=2.01, p=0.0049) were unfavorable, while SMAD3-rs744910 (OR=0.45, p=0.0153), SMAD3-rs745103 (OR=0.48, p=0.0471), and TRBP-rs6088619 (OR=0.39, p=0.0125) were protective. In 235 LARC patients, three prognostic biomarkers for 2-year disease-free survival were identified: IL17F-rs641701 (HR=3.23, p=0.003), IL17F-rs9463772 (HR=2.89, p=0.002), and STAT3-rs8069645 (HR=0.50, p=0.044).

Traits studied:Chemoradiotherapy responseDisease-free survivalLocally advanced rectal cancerOverall survivalPathological complete responseTumour regression grade

PubMed DOI Metascience Observatory

About SMAD3

The SMAD family of proteins are a group of intracellular signal transducer proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. The SMAD3 protein functions in the transforming growth factor-beta signaling pathway, and transmits signals from the cell surface to the nucleus, regulating gene activity and cell proliferation. This protein forms a complex with other SMAD proteins and binds DNA, functioning both as a transcription factor and tumor suppressor. Mutations in this gene are associated with aneurysms-osteoarthritis syndrome and Loeys-Dietz Syndrome 3. [provided by RefSeq, May 2022]