ArticleThe Journal of clinical investigation2004
Genetic variation in ABC transporter A1 contributes to HDL cholesterol in the general population.
Article in The Journal of clinical investigation, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 77 papers, 3 of them syntheses that pooled it.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
77 citing papers in PubMed, 3 syntheses or guidelines pooled it, 220 citations in OpenAlex.
- Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease.Molecular biology reports · 2013Pooled it
- Association of blood lipids with common DNA sequence variants at 19 genetic loci in the multiethnic United States National Health and Nutrition Examination Survey III.Circulation. Cardiovascular genetics · 2009Pooled it
- Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.Nature genetics · 2008 · on this mapPooled it
- Evaluation of the participation of ABCA1 transporter in epicardial and mediastinal adipose tissue from patients with coronary artery disease.Archives of endocrinology and metabolism · 2023Article
- Interactive effects of the low-carbohydrate diet score and genetic risk score on Hypo-HDL-cholesterolemia among Korean adults: A cross-sectional analysis from the Ansan and Ansung Study of the Korean Genome and Epidemiology Study.Food science & nutrition · 2022Article
- Effects of SNVs in ABCA1, ABCG1, ABCG5, ABCG8, and SCARB1 Genes on Plasma Lipids, Lipoproteins, and Adiposity Markers in a Brazilian Population.Biochemical genetics · 2022Article
- The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.International journal of molecular sciences · 2021Review
- Prevalence of overweight and metabolic syndrome, and associated sociodemographic factors among adult Ecuadorian populations: the ENSANUT-ECU study.Journal of endocrinological investigation · 2021Article
- Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.International journal of molecular sciences · 2020Article
- Longitudinal Phenotypes Improve Genotype Association for Hyperketonemia in Dairy Cattle.Animals : an open access journal from MDPI · 2019Article
- Article
- Is ABCA1 a lipid transfer protein?Journal of lipid research · 2018Review
- Logic Regression Analysis of Gene Polymorphisms and HDL Levels in a Nationally Representative Sample of Iranian Adolescents: The CASPIAN-III Study.International journal of endocrinology and metabolism · 2017Article
- ABC Transport Proteins in Cardiovascular Disease-A Brief Summary.Molecules (Basel, Switzerland) · 2017Review
- Association between Polymorphisms and Haplotype in the ABCA1 Gene and Overweight/Obesity Patients in the Uyghur Population of China.International journal of environmental research and public health · 2016Article
- Effect of ATP-binding Cassette Transporter A1 (ABCA1) Gene Polymorphisms on Plasma Lipid Variables and Common Demographic Parameters in Greek Nurses.The open cardiovascular medicine journal · 2016Article
- Genetic contribution of SCARB1 variants to lipid traits in African Blacks: a candidate gene association study.BMC medical genetics · 2015Article
- Intelligence: shared genetic basis between Mendelian disorders and a polygenic trait.European journal of human genetics : EJHG · 2015Article
- Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents.Molecular diagnosis & therapy · 2015Article
- The cis and trans effects of the risk variants of coronary artery disease in the Chr9p21 region.BMC medical genomics · 2015Article
17 more citing papers are in PubMed but not listed here.
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Authors and funding
4 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Homozygosity for mutations in ABC transporter A1 (ABCA1) causes Tangier disease, a rare HDL-deficiency syndrome. Whether heterozygosity for genetic variation in ABCA1 also contributes to HDL cholesterol (HDL-C) levels in the general population is presently unclear. We determined whether mutations or single-nucleotide polymorphisms (SNPs) in ABCA1 were overrepresented in individuals with the lowest 1% (n=95) or highest 1% (n=95) HDL-C levels in the general population by screening the core promoter and coding region of ABCA1. For all nonsynonymous SNPs identified, we determined the effect of genotype on lipid traits in 9,259 individuals from the general population. Heterozygosity for ABCA1 mutations was identified in 10% of individuals with low HDL-C only. Three of 6 nonsynonymous SNPs (V771M, V825I, and R1587K) were associated with increases or decreases in HDL-C in women in the general population and some with consistent trends in men, determined as isolated single-site effects varying only at the relevant SNP. Finally, these results were consistent over time. In conclusion, we show that at least 10% of individuals with low HDL-C in the general population are heterozygous for mutations in ABCA1 and that both mutations and SNPs in ABCA1 contribute to HDL-C levels in the general population.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.