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.
GWAS Catalog Trait Associations (30)
Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.
total cholesterol measurement
esterified cholesterol measurement, high density lipoprotein cholesterol measurement
total cholesterol measurement, high density lipoprotein cholesterol measurement
free cholesterol in very large HDL measurement
total lipids in very large HDL measurement
phospholipids in small HDL measurement
phospholipids:total lipids ratio, high density lipoprotein cholesterol measurement
phospholipids in very large HDL measurement
HDL particle size
cholesteryl esters in large HDL measurement
▶Research that mentions this SNP (3)
▶The Relationship Between Hepatic Lipase Gene Variant and Advanced Age-Related Macular DegenerationAssociationN=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).
▶The contribution of genetic factors to phenotype and progression of drusen in early age-related macular degenerationAssociationN=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).
▶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) studyAssociationN=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.
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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