Gene: ABCA1

Alternate names for this Gene: ABC-1|ABC1|CERP|HDLCQTL13|HDLDT1|HPALP1|TGD

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.1

Description of this Gene: ATP binding cassette subfamily A member 1

Type of Gene: protein-coding

rs1883025 in ABCA1 gene and Age related macular degeneration PMID 21665990 2011 Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs2575876 in ABCA1 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs2472448 in ABCA1 gene and Allergic rhinitis (disorder) PMID 25085501 2014 Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis.

rs2740488 in ABCA1 gene and Alzheimer's Disease PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.

rs4149327 in ABCA1 gene and Arthritis, Gouty PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs4149310 in ABCA1 gene and Calcification of coronary artery PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

rs1800978 in ABCA1 gene and Coronary Artery Disease PMID 29212778 2018 Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease.

rs1883025 in ABCA1 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs2740488 in ABCA1 gene and Exudative age-related macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs2740488 in ABCA1 gene and Geographic Atrophy PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

rs4149327 in ABCA1 gene and Gout PMID 22179738 2012 Gout and type 2 diabetes have a mutual inter-dependent effect on genetic risk factors and higher incidences.

rs10120087 in ABCA1 gene and High density lipoprotein measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 30718733 2019 The Korea Biobank Array: Design and Identification of Coding Variants Associated with Blood Biochemical Traits.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 26160806 2015 Contribution of Rare and Common Genetic Variants to Plasma Lipid Levels and Carotid Stiffness and Geometry: A Substudy of the Paris Prospective Study 3.

PMID 26780889 2016 Meta-analysis of lipid-traits in Hispanics identifies novel loci, population-specific effects, and tissue-specific enrichment of eQTLs.

PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 28270201 2017 Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants.

PMID 30805717 2019 Shared genetic architecture between metabolic traits and Alzheimer's disease: a large-scale genome-wide cross-trait analysis.

PMID 27668658 2016 Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 29615537 2018 Strong impact of natural-selection-free heterogeneity in genetics of age-related phenotypes.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 26879886 2016 A common variant association study reveals novel susceptibility loci for low HDL-cholesterol levels in ethnic Arabs.

PMID 18193046 2008 Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

rs137854499 in ABCA1 gene and Hypoalphalipoproteinemia, Familial PMID 15722566 2005 Denaturing high-performance liquid chromatography in the detection of ABCA1 gene mutations in familial HDL deficiency.

PMID 22962670 2012 Evaluation and treatment of hypertriglyceridemia: an Endocrine Society clinical practice guideline.

PMID 12204794 2002 ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease.

PMID 11086027 2000 Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

PMID 10533863 1999 Mutations in the ABC1 gene in familial HDL deficiency with defective cholesterol efflux.

PMID 10431236 1999 Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

PMID 12009425 2002 Novel ABCA1 compound variant associated with HDL cholesterol deficiency.

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PMID 16343503 2006 Functional mutations of the ABCA1 gene in subjects of French-Canadian descent with HDL deficiency.

PMID 22923419 2012 Exome sequencing identifies 2 rare variants for low high-density lipoprotein cholesterol in an extended family.

PMID 11238261 2001 Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease.

PMID 16429166 2005 Accurate prediction of the functional significance of single nucleotide polymorphisms and mutations in the ABCA1 gene.

PMID 15297675 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

rs2575876 in ABCA1 gene and Lipids measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs12686004 in ABCA1 gene and Low density lipoprotein cholesterol measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

rs12686004 in ABCA1 gene and Metabolic Syndrome X PMID 30382898 2018 Multiple genotype-phenotype association study reveals intronic variant pair on SIDT2 associated with metabolic syndrome in a Korean population.

PMID 22399527 2012 Genome-wide screen for metabolic syndrome susceptibility Loci reveals strong lipid gene contribution but no evidence for common genetic basis for clustering of metabolic syndrome traits.

rs2777795 in ABCA1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs10120087 in ABCA1 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 21909109 2011 Large-scale genome-wide association studies in East Asians identify new genetic loci influencing metabolic traits.

PMID 22629316 2012 Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 19060906 2009 Common variants at 30 loci contribute to polygenic dyslipidemia.

PMID 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 20864672 2010 Genetic variants influencing circulating lipid levels and risk of coronary artery disease.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

PMID 18193043 2008 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.

PMID 23505323 2013 Genomic study in Mexicans identifies a new locus for triglycerides and refines European lipid loci.

PMID 18193046 2008 Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

rs1883025 in ABCA1 gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs10115928 in ABCA1 gene and Serum total cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 24097068 2013 Discovery and refinement of loci associated with lipid levels.

PMID 28334899 2017 Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 26582766 2016 Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations.

PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

PMID 25961943 2015 The impact of low-frequency and rare variants on lipid levels.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

rs137854494 in ABCA1 gene and Tangier Disease PMID 11476961 2001 Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome.

PMID 12111381 2002 Double deletions and missense mutations in the first nucleotide-binding fold of the ATP-binding cassette transporter A1 ( ABCA1) gene in Japanese patients with Tangier disease.

PMID 11476965 2001 Novel mutations in ABCA1 gene in Japanese patients with Tangier disease and familial high density lipoprotein deficiency with coronary heart disease.

PMID 15019541 2004 Familial HDL deficiency due to ABCA1 gene mutations with or without other genetic lipoprotein disorders.

PMID 14576201 2003 Novel polypyrimidine variation (IVS46: del T -39...-46) in ABCA1 causes exon skipping and contributes to HDL cholesterol deficiency in a family with premature coronary disease.

PMID 12407001 2002 Lack of association between increased carotid intima-media thickening and decreased HDL-cholesterol in a family with a novel ABCA1 variant, G2265T.

PMID 14754908 2004 Analysis of apoE3-containing particles generated during the incubation of lipid-free apoE3 with stimulated normal cells showed nascent apoE3/cholesterol/phospholipid complexes that exhibited prebeta-electrophoretic mobility with a particle size ranging from 9 to 15 nm, whereas lipid-free apoE3 incubated with ABCA1 mutant (C1477R) cells was unable to form such particles.These results demonstrate that 1). apoE association with lipids reduced its ability to interact with ABCA1; 2). apoE isoforms did not affect apoE binding to ABCA1; 3). apoE-mediated ABCA1-dependent cholesterol efflux was not affected by apoE isoforms in fibroblasts; and 4). the lipid translocase activity of ABCA1 generates apoE-containing high density-sized lipoprotein particles.

PMID 15520867 2004 Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.

PMID 11257260 2001 A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease.

PMID 10938021 2000 Common and rare ABCA1 variants affecting plasma HDL cholesterol.

PMID 10431237 1999 The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

PMID 10431236 1999 Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

PMID 15262183 2004 Screening for functional sequence variations and mutations in ABCA1.

PMID 12111371 2002 Clinical variant of Tangier disease in Japan: mutation of the ABCA1 gene in hypoalphalipoproteinemia with corneal lipidosis.

PMID 15158913 2004 Two novel missense mutations in ABCA1 result in altered trafficking and cause severe autosomal recessive HDL deficiency.

PMID 10706591 2000 Novel mutations in the gene encoding ATP-binding cassette 1 in four tangier disease kindreds.

PMID 15297675 2004 Multiple rare alleles contribute to low plasma levels of HDL cholesterol.

PMID 24097981 2013 Differential phospholipid substrates and directional transport by ATP-binding cassette proteins ABCA1, ABCA7, and ABCA4 and disease-causing mutants.

PMID 11086027 2000 Age and residual cholesterol efflux affect HDL cholesterol levels and coronary artery disease in ABCA1 heterozygotes.

PMID 11785958 2002 Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency.

PMID 14754908 2004 Molecular interactions between apoE and ABCA1: impact on apoE lipidation.

PMID 12111371 2002 We have documented here a clinical variant of TD in a Japanese patient who manifested corneal lipidosis and premature coronary artery disease as well as an almost complete absence of HDL-cholesterol, by identifying a novel homozygous ABCA1 mutation (R1680W).

rs12686004 in ABCA1 gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

PMID 30275531 2018 Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program.

PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 19060911 2009 Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

rs10820747 in ABCA1 gene and Waist-Hip Ratio PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 30239722 2019 Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry.

rs2740488 in ABCA1 gene and exudative macular degeneration PMID 26691988 2016 A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.