rs11466334

This variant is located in the TGFB1 gene.

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GWAS Catalog Trait Associations (8)

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

type 2 diabetes mellitus

Suzuki K et al. “Genetic drivers of heterogeneity in type 2 diabetes pathophysiology.” Nature 627(8003):347-357 (2024)
Allele A
OR —
p 2.0e-27
N 2,535,601
Large GWAS
multi-ancestry
Huerta-Chagoya A et al. “Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes.” Nature Genetics 56(11):2370-2379 (2024)
Allele A
OR 0.33
p 1.0e-8
N 421,743
Large GWAS
multi-ancestry
Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele A
OR 0.15
p 9.0e-17
N 116,014
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
Polfus LM et al. “Genetic discovery and risk characterization in type 2 diabetes across diverse populations.” Hgg Advances 2(2) (2021)
Allele A
OR 1.35
p 6.0e-23
N 25,478
Large GWAS
African American or Afro-Caribbean, African unspecified

diabetic retinopathy

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.27
p 6.0e-21
N 611,288
Major Consortium StudyLarge GWAS
multi-ancestry

diabetes mellitus

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.15
p 4.0e-16
N 115,705
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

diabetes mellitus, Drugs used in diabetes use measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.20
p 1.0e-11
N 404,034
Major Consortium StudyLarge GWAS
multi-ancestry

age of onset of type 2 diabetes mellitus

Kwak SH et al. “Genetic architecture and biology of youth-onset type 2 diabetes.” Nature Metabolism 6(2):226-237 (2024)
Allele A
OR 1.55
p 5.0e-8
N 12,782
Large GWAS
multi-ancestry

diabetic eye disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.25
p 8.0e-18
N 115,018
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean

glucose measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.09
p 8.0e-20
N 601,111
Major Consortium StudyLarge GWAS
multi-ancestry

HbA1c measurement

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele G
OR 0.10
p 1.0e-21
N 98,578
Major Consortium StudyLarge GWAS
African American or Afro-Caribbean
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ClinVar annotation

Benign★★★☆
2 submitters1 publication
View on ClinVar →

About TGFB1

This gene encodes a secreted ligand of the TGF-beta (transforming growth factor-beta) superfamily of proteins. Ligands of this family bind various TGF-beta receptors leading to recruitment and activation of SMAD family transcription factors that regulate gene expression. The encoded preproprotein is proteolytically processed to generate a latency-associated peptide (LAP) and a mature peptide, and is found in either a latent form composed of a mature peptide homodimer, a LAP homodimer, and a latent TGF-beta binding protein, or in an active form consisting solely of the mature peptide homodimer. The mature peptide may also form heterodimers with other TGFB family members. This encoded protein regulates cell proliferation, differentiation and growth, and can modulate expression and activation of other growth factors including interferon gamma and tumor necrosis factor alpha. This gene is frequently upregulated in tumor cells, and mutations in this gene result in Camurati-Engelmann disease. [provided by RefSeq, Aug 2016]

View all TGFB1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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