rs116734477

This is a regulatory region variant variant in the ITGA1 gene.

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GWAS Catalog Trait Associations (39)

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

apolipoprotein B measurement

Richardson TG et al. “Evaluating the relationship between circulating lipoprotein lipids and apolipoproteins with risk of coronary heart disease: A multivariable Mendelian randomisation analysis.” Plos Medicine 17(3):e1003062 (2020)

Allele C

OR 0.06

p 2.0e-33

N 439,214

Large GWAS

European

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele C

OR 0.03

p 2.0e-11

N 450,015

Large GWAS

multi-ancestry

low density lipoprotein cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele T

OR 0.05

p 2.0e-33

N 1,320,016

Large GWAS

European

Jee YH et al. “Genome-wide association studies in a large Korean cohort identify quantitative trait loci for 36 traits and illuminate their genetic architectures.” Nature Communications 16(1):4935 (2025)

Allele T

OR 0.06

p 2.0e-22

N 928,679

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 T

OR 0.06

p 6.0e-16

N 578,857

Major Consortium StudyLarge GWAS

multi-ancestry

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 1.0e-15

N 450,015

Large GWAS

multi-ancestry

Allele T

OR 0.05

p 3.0e-19

N 440,546

Large GWAS

European

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.05

p 4.0e-18

N 416,487

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.05

p 1.0e-18

N 394,642

Large GWAS

European

Davyson E et al. “Metabolomic Investigation of Major Depressive Disorder Identifies a Potentially Causal Association With Polyunsaturated Fatty Acids.” Biological Psychiatry 94(8):630-639 (2023)

Allele T

OR 0.08

p 9.0e-11

N 88,329

Large GWAS

European

C-reactive protein measurement

Koskeridis F et al. “Pleiotropic genetic architecture and novel loci for C-reactive protein levels.” Nature Communications 13(1):6939 (2022)

Allele T

OR 0.05

p 2.0e-23

N 575,531

Large GWAS

European

free cholesterol in medium LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.05

p 3.0e-19

N 450,015

Large GWAS

multi-ancestry

Allele T

OR 0.08

p 3.0e-12

N 88,329

Large GWAS

European

phospholipids in medium LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 1.0e-17

N 450,015

Large GWAS

multi-ancestry

phospholipids in small LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 2.0e-17

N 450,015

Large GWAS

multi-ancestry

Allele T

OR 0.08

p 2.0e-11

N 88,329

Large GWAS

European

phospholipids in LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 5.0e-17

N 450,015

Large GWAS

multi-ancestry

total cholesterol measurement

Graham SE et al. “The power of genetic diversity in genome-wide association studies of lipids.” Nature 600(7890):675-679 (2021)

Allele T

OR 0.03

p 2.0e-16

N 1,320,016

Large GWAS

European

Allele T

OR 0.05

p 3.0e-15

N 928,679

Large GWAS

multi-ancestry

Sakaue S et al. “A cross-population atlas of genetic associations for 220 human phenotypes.” Nature Genetics 53(10):1415-1424 (2021)

Allele T

OR 0.04

p 1.0e-11

N 480,086

Large GWAS

multi-ancestry

Loya H et al. “A scalable variational inference approach for increased mixed-model association power.” Nature Genetics 57(2):461-468 (2025)

Allele T

OR 0.04

p 3.0e-12

N 394,642

Large GWAS

European

concentration of small HDL particles measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 3.0e-16

N 450,015

Large GWAS

multi-ancestry

free cholesterol in LDL measurement

Zoodsma M et al. “A genetic map of human metabolism across the allele frequency spectrum.” Nature Genetics 57(10):2445-2455 (2025)

Allele T

OR 0.04

p 5.0e-16

N 450,015

Large GWAS

multi-ancestry

Allele T

OR 0.08

p 4.0e-11

N 88,329

Large GWAS

European

About ITGA1

This gene encodes the alpha 1 subunit of integrin receptors. This protein heterodimerizes with the beta 1 subunit to form a cell-surface receptor for collagen and laminin. The heterodimeric receptor is involved in cell-cell adhesion and may play a role in inflammation and fibrosis. The alpha 1 subunit contains an inserted (I) von Willebrand factor type I domain which is thought to be involved in collagen binding. [provided by RefSeq, Jul 2008]

rs116734477

GWAS Catalog Trait Associations (39)

apolipoprotein B measurement

low density lipoprotein cholesterol measurement

C-reactive protein measurement

free cholesterol in medium LDL measurement

phospholipids in medium LDL measurement

phospholipids in small LDL measurement

phospholipids in LDL measurement

total cholesterol measurement

concentration of small HDL particles measurement

free cholesterol in LDL measurement

About ITGA1

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