rs17293632

This is a regulatory region variant variant in the SMAD3 gene.

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GWAS Catalog Trait Associations (17)

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

asthma

Han Y et al. “Genome-wide analysis highlights contribution of immune system pathways to the genetic architecture of asthma.” Nature Communications 11(1):1776 (2020)
Allele T
OR —
p 3.0e-70
N 536,345
Large GWAS
multi-ancestry
Zhou W et al. “Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease.” Cell Genomics 2(10):100192 (2022)
Allele T
OR 0.08
p 5.0e-58
N 1,800,785
Meta-analysisLarge GWAS
multi-ancestry
Demenais F et al. “Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks.” Nature Genetics 50(1):42-53 (2018)
Allele T
OR 0.12
p 9.0e-16
N 127,669
Large GWAS
European

body height

Yengo L et al. “A saturated map of common genetic variants associated with human height.” Nature 610(7933):704-712 (2022)
Allele T
OR 0.01
p 8.0e-47
N 5,314,291
Large GWAS
European, Hispanic or Latin American, East Asian, African unspecified, South Asian

eosinophil percentage of leukocytes

Vuckovic D et al. “The Polygenic and Monogenic Basis of Blood Traits and Diseases.” Cell 182(5):1214-1231.e11 (2020)
Allele T
OR 0.03
p 2.0e-33
N 408,112
Large GWAS
European

hemorrhoid

Zheng T et al. “Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease.” Gut 70(8):1538-49 (2021)
Allele T
OR 1.06
p 7.0e-32
N 944,133
Large GWAS
European

thyroid carcinoma

White SL et al. “Global multi-ancestry genome-wide analyses identify genes and biological pathways associated with thyroid cancer and benign thyroid diseases.” Nature Genetics 58(2):307-316 (2026)
Allele T
OR 0.15
p 1.0e-31
N 2,917,628
Large GWAS
multi-ancestry

Eczematoid dermatitis, allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.07
p 6.0e-25
N 323,807
Major Consortium StudyLarge GWAS
European

inflammatory bowel disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele A
OR 1.11
p 3.0e-20
N 34,652
Large GWAS
multi-ancestry
Jostins L et al. “Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.” Nature 491(7422):119-24 (2012)
Allele A
OR 1.07
p 6.0e-16
N 34,366
Large GWAS
European

Crohn's disease

Liu JZ et al. “Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.” Nature Genetics 47(9):979-986 (2015)
Allele T
OR 1.14
p 4.0e-20
N 20,883
Large GWAS
multi-ancestry
Franke A et al. “Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.” Nature Genetics 42(12):1118-25 (2010)
Allele T
OR 1.12
p 3.0e-19
N 21,389
Meta-analysisLarge GWAS
European

allergic rhinitis

Johansson Å et al. “Genome-wide association analysis of 350 000 Caucasians from the UK Biobank identifies novel loci for asthma, hay fever and eczema.” Human Molecular Genetics 28(23):4022-4041 (2019)
Allele T
OR 1.11
p 9.0e-16
N 258,688
Major Consortium StudyLarge GWAS
European

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 C
OR —
β 0.080
p 7.0e-15
N 519,828
Large GWAS
East Asian, European
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ClinVar annotation

Benign★☆☆☆
1 submitter

Aneurysm-osteoarthritis syndrome

View on ClinVar →
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Research that mentions this SNP (1)

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Association of TGFBR2 rs6785358 Polymorphism with Increased Risk of Congenital Ventricular Septal Defect in a Chinese Population
AssociationN=3,000Xiang-Ting Li et al.(2015)· Pediatric Cardiology

This association study examined 141 tag SNPs in 8 transforming growth factor-beta (TGFβ) signaling pathway genes (SMAD2, SMAD3, SMAD4, TGFB1, TGFB2, TGFB3, TGFBR1, TGFBR2) in 3,000 Taiwanese subjects (2,467 without metabolic syndrome, 533 with) to assess associations with metabolic syndrome (MetS). The study found significant associations with SMAD2 rs11082639 (OR=1.66, 95% CI=1.32-2.08, P=1.4×10⁻⁵ in additive model) and TGFBR2 rs3773651 (OR=1.50, 95% CI=1.04-2.15, P=0.0285 in additive model), which remained significant after Bonferroni correction. SMAD2 rs11082639 was specifically associated with high waist circumference. Gene-gene interaction analysis revealed a significant interaction between SMAD2 and TGFBR2 variants influencing MetS risk.

Traits studied:blood pressurefasting glucosehigh-density lipoprotein cholesterolmetabolic syndrometriglyceridewaist circumference
PubMedDOIMetascience 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]

View all SMAD3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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