Gene: APOB

Alternate names for this Gene: FCHL2|FLDB|LDLCQ4|apoB-100|apoB-48

Gene Summary: This gene product is the main apolipoprotein of chylomicrons and low density lipoproteins (LDL), and is the ligand for the LDL receptor. It occurs in plasma as two main isoforms, apoB-48 and apoB-100: the former is synthesized exclusively in the gut and the latter in the liver. The intestinal and the hepatic forms of apoB are encoded by a single gene from a single, very long mRNA. The two isoforms share a common N-terminal sequence. The shorter apoB-48 protein is produced after RNA editing of the apoB-100 transcript at residue 2180 (CAA->UAA), resulting in the creation of a stop codon, and early translation termination. Mutations in this gene or its regulatory region cause hypobetalipoproteinemia, normotriglyceridemic hypobetalipoproteinemia, and hypercholesterolemia due to ligand-defective apoB, diseases affecting plasma cholesterol and apoB levels.

Gene is located in Chromosome: 2

Location in Chromosome : 2p24.1

Description of this Gene: apolipoprotein B

Type of Gene: protein-coding

rs1215189537 in APOB gene and Acanthocytosis With Hypobetalipoproteinemia PMID 17570373 2007 Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

PMID 22855658 2012 Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 9191540 1997 Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.

PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 23936638 2013 Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 10388479 1999 Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.

PMID 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.

PMID 26415676 2015 Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

PMID 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

PMID 20032471 2010 Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.

PMID 22095935 2012 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

PMID 24507775 2014 Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

PMID 8468533 1993 Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.

PMID 18222178 2008 Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 18325181 2008 High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

PMID 15797858 2005 Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.

PMID 9105560 1997 Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.

PMID 21868016 2011 Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

PMID 21059979 2010 Familial defective apolipoprotein B-100 and increased low-density lipoprotein cholesterol and coronary artery calcification in the old order amish.

PMID 21981844 2012 A novel mutation of apolipoprotein B in a French Canadian family with homozygous hypobetalipoproteinemia.

PMID 12551903 2003 A novel nontruncating APOB gene mutation, R463W, causes familial hypobetalipoproteinemia.

PMID 27206948 2017 Novel APOB missense variants, A224T and V925L, in a black South African woman with marked hypocholesterolemia.

rs11901649 in APOB gene and Adenocarcinoma Of Esophagus PMID 31527586 2019 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

rs2678379 in APOB 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.

rs520354 in APOB gene and Apolipoprotein B Assay PMID 28240269 2017 Connecting genetic risk to disease end points through the human blood plasma proteome.

rs11901649 in APOB gene and Barrett Esophagus PMID 31527586 2019 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

rs679899 in APOB gene and Blood Protein Measurement PMID 30072576 2018 Co-regulatory networks of human serum proteins link genetics to disease.

rs673548 in APOB gene and Calcification of coronary artery PMID 22916037 2012 Novel Loci for metabolic networks and multi-tissue expression studies reveal genes for atherosclerosis.

rs1367117 in APOB gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs693 in APOB 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.

rs144467873 in APOB gene and Familial hypercholesterolemia - homozygous PMID 10529757 1999 LDL receptor mutations and ApoB mutations are not risk factors for ischemic cerebrovascular disease of the young, but lipids and lipoproteins are.

PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

PMID 20538126 2010 Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

PMID 9191540 1997 Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.

PMID 24784157 2014 The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.

PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

PMID 17964958 2007 LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

PMID 11833852 2001 Italian familial defective apolipoprotein B patients share a unique haplotype with other Caucasian patients.

PMID 10388479 1999 Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.

PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 22408029 2012 Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.

PMID 24987033 2014 Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

PMID 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

PMID 8831935 1996 Rapid testing for three mutations causing familial defective apolipoprotein B100 in 562 patients with familial hypercholesterolaemia.

PMID 11781700 2001 Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

PMID 22698793 2012 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

PMID 18096825 2008 Femoral atherosclerosis in heterozygous familial hypercholesterolemia: influence of the genetic defect.

PMID 10208479 1999 The type of mutation in the low density lipoprotein receptor gene influences the cholesterol-lowering response of the HMG-CoA reductase inhibitor simvastatin in patients with heterozygous familial hypercholesterolaemia.

PMID 8254047 1993 "Accumulation of ""small dense"" low density lipoproteins (LDL) in a homozygous patients with familial defective apolipoprotein B-100 results from heterogenous interaction of LDL subfractions with the LDL receptor."

PMID 20236128 2010 Mutation detection rate and spectrum in familial hypercholesterolaemia patients in the UK pilot cascade project.

PMID 23130880 2013 Mutation detection in Croatian patients with familial hypercholesterolemia.

PMID 11494965 2001 High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 1977310 1990 Haplotype analysis of the human apolipoprotein B mutation associated with familial defective apolipoprotein B100.

PMID 25461735 2015 Familial hypercholesterolemia in Brazil: cascade screening program, clinical and genetic aspects.

PMID 20809525 2010 Molecular spectrum of autosomal dominant hypercholesterolemia in France.

PMID 10735632 2000 Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

PMID 9104431 1997 Molecular genetics of familial hypercholesterolaemia in Norway.

PMID 21310417 2011 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

PMID 20145306 2010 Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

PMID 1466657 1992 Familial defective apolipoprotein B-100: a single mutation that causes hypercholesterolemia and premature coronary artery disease.

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 17142622 2006 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

PMID 17765246 2008 Familial hypercholesterolaemia in Portugal.

PMID 18700895 2008 Multiplex MassARRAY spectrometry (iPLEX) produces a fast and economical test for 56 familial hypercholesterolaemia-causing mutations.

PMID 1793440 1991 Rapid screening for specific mutations in patients with a clinical diagnosis of familial hypercholesterolaemia.

PMID 1360085 1992 Familial defective apolipoprotein B-100: mild hypercholesterolaemia without atherosclerosis in a homozygous patient.

PMID 8318993 1993 Identification of the haplotype associated with the APOB-3500 mutation in a French hypercholesterolemic subject: further support for a unique European ancestral mutation.

PMID 11137107 2001 Frequency of the R3500Q mutation of the apolipoprotein B-100 gene in a sample screened clinically for familial hypercholesterolemia in Hungary.

PMID 21657943 2011 Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution.

PMID 22244043 2012 Molecular characterization of familial hypercholesterolemia in Spain.

PMID 17539906 2007 Multiplex ARMS analysis to detect 13 common mutations in familial hypercholesterolaemia.

PMID 18028451 2008 Genetic heterogeneity of autosomal dominant hypercholesterolemia.

PMID 23054246 2012 Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.

PMID 9339363 1997 Estimation of the age of the ancestral arginine3500-->glutamine mutation in human apoB-100.

PMID 9654205 1998 LDL-R and Apo-B-100 gene mutations in Polish familial hypercholesterolemias.

PMID 23064986 2012 Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

PMID 8371062 1993 A unique haplotype of the apolipoprotein B-100 allele associated with familial defective apolipoprotein B-100 in a Chinese man discovered during a study of the prevalence of this disorder.

PMID 22883975 2012 Genetic analysis of familial hypercholesterolaemia in Western Australia.

PMID 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

PMID 8723684 1996 Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100.

rs11901649 in APOB gene and Gastroesophageal reflux disease PMID 31527586 2019 Gastroesophageal reflux GWAS identifies risk loci that also associate with subsequent severe esophageal diseases.

rs673548 in APOB gene and Glucose measurement PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

rs1041968 in APOB gene and High density lipoprotein measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

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

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

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

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

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

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

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

rs144467873 in APOB gene and Hypercholesterolemia, Familial PMID 22353362 2012 Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

PMID 27783906 2016 Child-Parent Familial Hypercholesterolemia Screening in Primary Care.

PMID 9603795 1998 Association of mutations in the apolipoprotein B gene with hypercholesterolemia and the risk of ischemic heart disease.

PMID 10952765 2000 Autosomal dominant type IIa hypercholesterolemia: evaluation of the respective contributions of LDLR and APOB gene defects as well as a third major group of defects.

PMID 24987033 2014 Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.

PMID 17160438 2007 ApoB-100 R3500Q mutation in the Lebanese population: prevalence and historical review of the literature.

PMID 26036859 2016 Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 11781700 2001 Familial defective apolipoprotein B-100 in a group of hypercholesterolaemic patients in Poland. Identification of a new mutation Thr3492Ile in the apolipoprotein B gene.

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 11494965 2001 High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects.

rs144467873 in APOB gene and Hyperlipoproteinemia Type IIa PMID 27765764 2016 Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.

rs1215189537 in APOB gene and Hyperlipoproteinemia Type IIb PMID 22855658 2012 Familial hypobetalipoproteinemia-induced nonalcoholic steatohepatitis.

PMID 17570373 2007 Molecular diagnosis of hypobetalipoproteinemia: an ENID review.

PMID 10388479 1999 Mutations in the apolipoprotein (apo) B-100 receptor-binding region: detection of apo B-100 (Arg3500-->Trp) associated with two new haplotypes and evidence that apo B-100 (Glu3405-->Gln) diminishes receptor-mediated uptake of LDL.

PMID 21376320 2011 Array-based resequencing for mutations causing familial hypercholesterolemia.

PMID 16250003 2005 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

PMID 26415676 2015 Next-generation-sequencing-based identification of familial hypercholesterolemia-related mutations in subjects with increased LDL-C levels in a latvian population.

PMID 21862702 2011 Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

PMID 11238294 2001 Compound heterozygous familial hypercholesterolemia and familial defective apolipoprotein B-100 produce exaggerated hypercholesterolemia.

PMID 9702952 1998 Identification and haplotype analysis of apolipoprotein B-100 Arg3500-->Trp mutation in hyperlipidemic Chinese.

PMID 2563166 1989 Association between a specific apolipoprotein B mutation and familial defective apolipoprotein B-100.

PMID 24234650 2014 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.

PMID 27206935 2017 Genetic diagnosis of familial hypercholesterolemia in Han Chinese.

PMID 9191540 1997 Denaturing gradient-gel electrophoresis screening of familial defective apolipoprotein B-100 in a mixed Asian cohort: two cases of arginine3500-->tryptophan mutation associated with a unique haplotype.

PMID 22294733 2012 Microfluidic amplification as a tool for massive parallel sequencing of the familial hypercholesterolemia genes.

PMID 23375686 2013 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

PMID 7627691 1995 Independent mutations at codon 3500 of the apolipoprotein B gene are associated with hyperlipidemia.

PMID 23936638 2013 Quality assessment of the genetic test for familial hypercholesterolemia in the Netherlands.

PMID 20032471 2010 Nonsynonymous mutations within APOB in human familial hypobetalipoproteinemia: evidence for feedback inhibition of lipogenesis and postendoplasmic reticulum degradation of apolipoprotein B.

PMID 22095935 2012 Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

PMID 24507775 2014 Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.

PMID 8468533 1993 Four new mutations in the apolipoprotein B gene causing hypobetalipoproteinemia, including two different frameshift mutations that yield truncated apolipoprotein B proteins of identical length.

PMID 21059979 2010 Additional genotyping revealed the presence of R3500Q, the mutation responsible for familial defective apolipoprotein B-100, which was also strongly associated with LDL-C in the replication sample (P < 10(-36)).

PMID 21868016 2011 Reduced penetrance of autosomal dominant hypercholesterolemia in a high percentage of families: importance of genetic testing in the entire family.

PMID 9259199 1997 Familial ligand-defective apolipoprotein B-100: simultaneous detection of the ARG3500-->GLN and ARG3531-->CYS mutations in a French population.

PMID 18222178 2008 Detection of familial defective apoB (FDB) mutations in hypercholesterolemic children and adolescents by denaturing high performance liquid chromatography (DHPLC).

PMID 7883971 1995 Familial ligand-defective apolipoprotein B. Identification of a new mutation that decreases LDL receptor binding affinity.

PMID 15797858 2005 Mutation in apolipoprotein B associated with hypobetalipoproteinemia despite decreased binding to the low density lipoprotein receptor.

PMID 18325181 2008 High-resolution melting analysis for detection of familial ligand-defective apolipoprotein B-100 mutations.

PMID 21382890 2011 Molecular basis of autosomal dominant hypercholesterolemia: assessment in a large cohort of hypercholesterolemic children.

PMID 11115503 2001 The molecular mechanism for the genetic disorder familial defective apolipoprotein B100.

PMID 9105560 1997 Familial ligand-defective apolipoprotein B-100: detection, biochemical features and haplotype analysis of the R3531C mutation in the UK.

rs143301836 in APOB gene and Hypobetalipoproteinemias PMID 25335495 2015 Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

PMID 24751931 2014 Hypobetalipoproteinemia and abetalipoproteinemia.

rs12713956 in APOB gene and Lipids measurement PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 19936222 2009 Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis.

rs10199768 in APOB gene and Low density lipoprotein cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

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

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

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

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

PMID 30926973 2019 Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum 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 24507774 2014 Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks.

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

PMID 23247145 2013 Genome-wide association study pinpoints a new functional apolipoprotein B variant influencing oxidized low-density lipoprotein levels but not cardiovascular events: AtheroRemo Consortium.

PMID 23696881 2013 Imputation of variants from the 1000 Genomes Project modestly improves known associations and can identify low-frequency variant-phenotype associations undetected by HapMap based imputation.

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

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

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

PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

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

rs673548 in APOB gene and Metabolic Syndrome X 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.

rs10199768 in APOB gene and Pseudocholinesterase Measurement PMID 21943158 2011 Genetic variants in LPL, OASL and TOMM40/APOE-C1-C2-C4 genes are associated with multiple cardiovascular-related traits.

rs1042034 in APOB gene and RDW - Red blood cell distribution width result PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1042034 in APOB gene and Red cell distribution width determination PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1042034 in APOB gene and Serum HDL cholesterol measurement PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood lipids.

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

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

rs10199768 in APOB gene and Serum LDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

PMID 23726366 2013 Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations.

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood 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 18193044 2008 Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.

PMID 18262040 2008 LDL-cholesterol concentrations: a genome-wide association study.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

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

rs10199768 in APOB gene and Serum albumin measurement PMID 22286219 2012 Genome-wide association study identifies multiple loci influencing human serum metabolite levels.

rs10199768 in APOB 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 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

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

PMID 23236364 2012 Gene-centric meta-analysis of lipid traits in African, East Asian and Hispanic populations.

PMID 20686565 2010 Biological, clinical and population relevance of 95 loci for blood 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 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

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

rs1041968 in APOB gene and Triglycerides measurement PMID 29507422 2018 A large electronic-health-record-based genome-wide study of serum lipids.

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

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

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

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

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.

PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.

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

PMID 17463246 2007 Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.

rs673548 in APOB gene and elevated blood glucose level PMID 19060910 2009 Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.