rs1883025

This is a intron variant variant in the ABCA1 gene.

GWAS Catalog Trait Associations (30)

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

total cholesterol measurement

Allele T
OR 0.09
p 3.0e-103
N 153,950
Large GWAS
East Asian
Allele T
OR 2.24
p 3.0e-27
N 100,184
Large GWAS
European
Hoffmann TJ et al. A large electronic-health-record-based genome-wide study of serum lipids. Nature Genetics 50(3):401-413 (2018)
Allele T
OR
β 0.060
p 4.0e-30
N 94,674
Large GWAS
multi-ancestry
Willer CJ et al. Discovery and refinement of loci associated with lipid levels. Nature Genetics 45(11):1274-1283 (2013)
Allele T
OR
β 0.067
p 6.0e-53
N 94,595
Large GWAS
European
Allele T
OR 3.06
p 2.0e-38
N 58,701
Large GWAS
East Asian
Allele T
OR 0.09
p 2.0e-30
N 38,000
Large GWAS
South Asian
Allele T
OR 0.07
p 1.0e-9
N 22,814
Large GWAS
East Asian
Allele T
OR 0.09
p 4.0e-13
N 22,000
Large GWAS
South Asian

esterified cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 5.0e-56
N 136,016
Large GWAS
multi-ancestry

total cholesterol measurement, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.07
p 3.0e-53
N 136,016
Large GWAS
multi-ancestry

free cholesterol in very large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 3.0e-41
N 136,016
Large GWAS
multi-ancestry

total lipids in very large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.06
p 4.0e-40
N 136,016
Large GWAS
multi-ancestry

phospholipids in small HDL 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 0.03
p 2.0e-28
N 450,015
Large GWAS
multi-ancestry

phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 2.0e-24
N 136,016
Large GWAS
multi-ancestry

phospholipids in very large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.05
p 3.0e-22
N 136,016
Large GWAS
multi-ancestry

HDL particle size

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 5.0e-17
N 136,016
Large GWAS
multi-ancestry

cholesteryl esters in large HDL measurement

Karjalainen MK et al. Genome-wide characterization of circulating metabolic biomarkers. Nature 628(8006):130-138 (2024)
Allele T
OR 0.04
p 1.0e-16
N 136,016
Large GWAS
multi-ancestry

Research that mentions this SNP (3)

The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular Degeneration
AssociationN=472Li-Xia Lou et al.(2014)· JAMA Ophthalmology

Prospective cohort study of 472 elderly French participants (mean age 81.9 years) from the ALIENOR study examining incident reticular pseudodrusen (RPD). Annual incidence was 2.047% with estimated 5-year cumulative incidence of 9.73%. Risk factors identified in multivariate analysis included ARMS2 rs10490924 (HR 3.36, p=0.0009), LIPC rs10468017 (HR 2.65, p=0.0029), and thinner choroidal thickness (HR 1.06, p=0.0085). Liposoluble statin medication was protective (HR 0.18, p=0.0448).

Traits studied:age-related macular degenerationreticular pseudodrusen
The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degeneration
AssociationN=576Martha Dietzel et al.(2014)· Graefe's Archive for Clinical and Experimental Ophthalmology

This prospective cohort study (Münster Aging and Retina Study, MARS) analyzed genetic variants in CFH (rs1061170), ARMS2 (rs10490924), and ABCA1 (rs1883025) in relation to drusen phenotypes and progression in early age-related macular degeneration. Cross-sectionally, CFH and ARMS2 risk variants were associated with drusen features, while longitudinally over 2.6 years, ABCA1 showed inverse association with drusen progression (OR=0.54) and CFH showed positive association with intermediate-to-high drusen progression (OR=2.33).

Traits studied:DrusenEarly age-related macular degenerationMacular degeneration progression
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
AssociationN=5,576Logan Dumitrescu et al.(2012)· Human Genetics

This study investigated gene-environment interactions between 23 GWAS-identified lipid-associated SNPs and serum vitamins A and E in the National Health and Nutrition Examination Surveys (NHANES), including 5,576 participants across three racial/ethnic groups. Nine significant interactions were identified, with the most significant being APOB rs693×vitamin E associated with LDL-C in Mexican Americans (p=8.94×10⁻⁷). These nine interactions explained only 0.35-1.28% of variation in lipid traits, suggesting that gene-environment interactions account for modest proportions of the missing heritability in lipid metabolism.

Traits studied:HDL-C (High-Density Lipoprotein Cholesterol)LDL-C (Low-Density Lipoprotein Cholesterol)Triglycerides

About ABCA1

The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. With cholesterol as its substrate, this protein functions as a cholesteral efflux pump in the cellular lipid removal pathway. Mutations in both alleles of this gene cause Tangier disease and familial high-density lipoprotein (HDL) deficiency. [provided by RefSeq, Sep 2019]

View all ABCA1 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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