Varaico: Literature-Extracted Genetic Variants

Gene:ABCA1
Variant:p.R230C
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ABCA1

NM_005502.4:p.R230C

Associated Papers

Analysis of a deeply-phenotyped familial hypercholesterolemia cohort from Mexico shows a role for both rare and common alleles across known dyslipidemia genes and reveals structural variation in a novel locus.

Katsanis N et al.

Human Genomics, 2025

41287107 (PubMed )
Supplement: 40246_2025_831_MOESM1_ESM.docx

Genomics of cardiometabolic disease: contributions of Mexican research groups.

Domínguez-Pérez M et al.

Gaceta Medica De Mexico, 2025

Nutritional genomics in the Mexican population. An approach to prevent the development of obesity-associated metabolic diseases.

Aguilar-Salazar A et al.

Gaceta Medica De Mexico, 2025

Relationship of nuclear and mitochondrial variants with type 2 diabetes and its microvascular comorbidities in a population of Mexican origin.

Muñoz-Gómez R et al.

Gaceta Medica De Mexico, 2025

High frequency of metabolic syndrome in non-obese Maya children from México: Implications of PPARG, KCNJ1, HHEX, HNF4A, ACE (I/D), FTO and ABCA1 genetics variants.

Peña-Espinoza B et al.

Gaceta Medica De Mexico, 2025

Selection scan in Native Americans of Mexico identifies FADS2 rs174616: Evidence of gene-diet interactions affecting lipid levels and Delta-6-desaturase activity.

Romero-Hidalgo S et al.

Heliyon, 2024

ABCA1 variant rs9282541 is associated with metabolic syndrome in Maya children.

Peña-Espinoza BI et al.

Annals of Human Genetics, 2024

Evaluation of the participation of ABCA1 transporter in epicardial and mediastinal adipose tissue from patients with coronary artery disease.

Fuentevilla-Álvarez G et al.

Archives of Endocrinology and Metabolism, 2023

Cholesterol-rich dietary pattern during early pregnancy and genetic variations of cholesterol metabolism genes in predicting gestational diabetes mellitus: a nested case-control study.

Cui N et al.

The American Journal of Clinical Nutrition, 2023

Lipid-Related Genetic Variants for Personalized Dietary Interventions: A Systematic Review.

Rivera-Íñiguez I et al.

Molecular Nutrition & Food Research, 2023

The gene variant that helped put Latinxs in the 1000 genomes project.

Ávila-Arcos MC

Nature Reviews. Genetics, 2022

Linking disease-associated genetic variants to cell types and processes.

Minton K

Nature Reviews. Genetics, 2022

Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Lee S et al.

Diabetology & Metabolic Syndrome, 2022

Differential distribution of gene polymorphisms associated with hypercholesterolemia, hypertriglyceridemia, and hypoalphalipoproteinemia among Native American and Mestizo Mexicans.

Torres-Valadez R et al.

World Journal of Hepatology, 2022

Role of ABCA1 in Cardiovascular Disease.

Wang J et al.

Journal of Personalized Medicine, 2022

Exome Sequencing Data Analysis and a Case-Control Study in Mexican Population Reveals Lipid Trait Associations of New and Known Genetic Variants in Dyslipidemia-Associated Loci.

Jurado-Camacho PA et al.

Frontiers in Genetics, 2022

Genomic Variants and Multilevel Regulation of ABCA1, ABCG1, and SCARB1 Expression in Atherogenesis.

Rozhkova AV et al.

Journal of Cardiovascular Development and Disease, 2021

Genome-Wide Association Study Identifies a Functional SIDT2 Variant Associated With HDL-C (High-Density Lipoprotein Cholesterol) Levels and Premature Coronary Artery Disease.

León-Mimila P et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2021

HDL and type 2 diabetes: the chicken or the egg?

Xepapadaki E et al.

Diabetologia, 2021

Common Genetic Variations Involved in the Inter-Individual Variability of Circulating Cholesterol Concentrations in Response to Diets: A Narrative Review of Recent Evidence.

Abdullah MMH et al.

Nutrients, 2021

The Role of the ATP-Binding Cassette A1 (ABCA1) in Human Disease.

Jacobo-Albavera L et al.

International Journal of Molecular Sciences, 2021

Quantile-Dependent Expressivity and Gene-Lifestyle Interactions Involving High-Density Lipoprotein Cholesterol.

Williams PT

Lifestyle Genomics, 2021

Computational SNP Analysis and Molecular Simulation Revealed the Most Deleterious Missense Variants in the NBD1 Domain of Human ABCA1 Transporter.

Dash R et al.

International Journal of Molecular Sciences, 2020

33066695 (PubMed )
Supplement: ijms-21-07606-s001.zip › Supplementary_Files › Supplementary_File_1..xlsx › Sheet1

Common polymorphisms in MC4R and FTO genes are associated with BMI and metabolic indicators in Mexican children: Differences by sex and genetic ancestry.

López-Rodríguez G et al.

Gene, 2020

Interaction of FTO rs9939609 and the native American-origin ABCA1 p.Arg230Cys with circulating leptin levels in Mexican adolescents diagnosed with eating disorders: Preliminary results.

Genis-Mendoza AD et al.

Psychiatry Research, 2020

R230C but not - 565C/T variant of the ABCA1 gene is associated with type 2 diabetes in Mexicans through an effect on lowering HDL-cholesterol levels.

Ochoa-Guzmán A et al.

Journal of Endocrinological Investigation, 2020

Association of genetic variants of ABCA1 with susceptibility to dementia: (SADEM study).

Teresa JC et al.

Metabolic Brain Disease, 2020

Association between ABC family variants rs1800977, rs4149313, and rs1128503 and susceptibility to type 2 diabetes in a Chinese Han population.

Yan R et al.

The Journal of International Medical Research, 2020

Is it possible ABC transporters genetic variants influence the outcomes of a weight-loss diet in obese women?

Teixeira MD et al.

Genetics and Molecular Biology, 2020

The rs46522 Polymorphism of the Ubiquitin-Conjugating Enzyme E2Z Gene Is Associated with Abnormal Metabolic Parameters in Patients with Myocardial Infarction: The Genetics of Atherosclerosis Disease Mexican Study.

Rodríguez-Pérez JM et al.

Dna and Cell Biology, 2020

Common gene polymorphism in ATP-binding cassette transporter A1 and coronary artery disease: A genetic association study and a structural analysis.

Karimian M et al.

Journal of Cellular Biochemistry, 2020

A Regionalized Genome-Based Mexican Diet Improves Anthropometric and Metabolic Parameters in Subjects at Risk for Obesity-Related Chronic Diseases.

Ojeda-Granados C et al.

Nutrients, 2020

ABCA1 Variants rs1800977 (C69T) and rs9282541 (R230C) Are Associated with Susceptibility to Type 2 Diabetes.

Du W et al.

Public Health Genomics, 2020

Association of rs146292819 Polymorphism in ABCA1 Gene with the Risk of Coronary Artery Disease in Pakistani Population.

Sameem M et al.

Biochemical Genetics, 2019

Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Barboza-Cerda MC et al.

Molecular Genetics & Genomic Medicine, 2019

ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.

Wang F et al.

Journal of Clinical Laboratory Analysis, 2019

ATP-binding cassette sub-family a member1 gene mutation improves lipid metabolic abnormalities in diabetes mellitus.

Yan H et al.

Lipids in Health and Disease, 2019

Genetic and secondary causes of severe HDL deficiency and cardiovascular disease.

Geller AS et al.

Journal of Lipid Research, 2018

Rare genetic variation implicated in non-Hispanic white families with Alzheimer disease.

Beecham GW et al.

Neurology. Genetics, 2018

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

Klarin D et al.

Nature Genetics, 2018

30275531 (PubMed )
Supplement: NIHMS1502930-supplement-9.xlsx › Sheet1

Whole-exome sequencing in maya indigenous families: variant in PPP1R3A is associated with type 2 diabetes.

Sánchez-Pozos K et al.

Molecular Genetics and Genomics : Mgg, 2018

Raet1e Polymorphisms Are Associated with Increased Risk of Developing Premature Coronary Artery Disease and with Some Cardiometabolic Parameters: The GEA Mexican Study.

Posadas-Sánchez R et al.

Mediators of Inflammation, 2018

Susceptibility background for type 2 diabetes in eleven Mexican Indigenous populations: HNF4A gene analysis.

Granados-Silvestre MA et al.

Molecular Genetics and Genomics : Mgg, 2017

Tailoring Nutritional Advice for Mexicans Based on Prevalence Profiles of Diet-Related Adaptive Gene Polymorphisms.

Ojeda-Granados C et al.

Journal of Personalized Medicine, 2017

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf

A tale of agriculturalists and hunter-gatherers: Exploring the thrifty genotype hypothesis in native South Americans.

Reales G et al.

American Journal of Physical Anthropology, 2017

Interaction between FTO rs9939609 and the Native American-origin ABCA1 rs9282541 affects BMI in the admixed Mexican population.

Villalobos-Comparán M et al.

Bmc Medical Genetics, 2017

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

Wakil SM et al.

Clinical Genetics, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."