rs744910

This is a intron variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (2)

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

asthma, endometriosis

Adewuyi EO et al. “Genetic overlap analysis of endometriosis and asthma identifies shared loci implicating sex hormones and thyroid signalling pathways.” Human Reproduction (oxford, England) 37(2):366-383 (2022)

Allele G

OR —

β 0.063

p 3.0e-12

N 519,828

Large GWAS

East Asian, European

asthma

Moffatt MF et al. “A large-scale, consortium-based genomewide association study of asthma.” The New England Journal of Medicine 363(13):1211-1221 (2010)

Allele G

OR 1.12

p 4.0e-9

N 26,475

Major Consortium StudyLarge GWAS

European, Other

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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]