How to Build CHD@ZJU

CHD related Articles were retrieved from Pubmed, by entering keywords "coronary heart disease" and constrict the publish date from 2000/1/1 to now (2013/1/23). As a result, totally 115898 articles were found and their abstracts were downloaded for text mining. Since some articles didn't contain abstracts, only 88396 abstracts remained.

The text-mining process to get CHD related genes could be divided in to 5 following steps:

  • 1) Extracting all keywords from abstracts and ignoring those keywords start with numbers. 101402 keywords were extracted.

  • 2) Input these keywords into Gene library in ArrayTrack and find possible related genes. 4674 genes were then found.

  • 3) Put these 4674 genes again into pubmed abstracts to find related aticles. Only genes which offical name or there keyword description (such as prolactin for gene PRL) could be found in the abstract would be remained. As a result, 1247 genes were remained.

  • 4) Manually examined on the 1247 genes to validate it was acutally related to CHD. Some genes would be filtered if it represents other meanings (such as gene CAD, Entrez ID:790, carbamoyl-phosphate synthetase 2, is mostly meant coronary arterial disease in articles). 681 genes were then validated with at least one reference.

  • 5) All genes was compared with 1078 CHD genes in RGD database, and 370 genes were overlapped. These 370 genes were labels as "RGD_Supported" and the other 293 genes were labels as "REFERED". All 663 genes had supported references in CHD@ZJU which were examined by step 4.
  • How To contact Us

    Collaboration Information: Prof. Xiaohui Fan (

    Website using assistance : Leihong Wu (

    Basic Information

    Gene Name: LDLR

    Description: low density lipoprotein receptor

    Entrez Gene ID: 3949

    SwissProt Acc Number: P01130

    RefSeq: NM_000527

    It was suspected to be CHD related:

    ..The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia...

    From PMID: 19446849, in Journal J Pediatr. , 2009


    There were 133 potential papers with LDLR and CHD.

    24046328 A variant in LDLR is associated with abdominal aortic aneurysm.Circulation. Cardiovascular geneticsMore Details
    24190014 BRG1 variant rs1122608 on chromosome 19p13.2 confers protection against stroke and regulates expression of pre-mRNA-splicing factor SFRS3.Human geneticsMore Details
    24234650 Novel functional APOB mutations outside LDL-binding region causing familial hypercholesterolaemia.Human molecular geneticsMore Details
    24251769 LDL-c linked SNPs are associated with LDL-c and myocardial infarction despite lipid-lowering therapy in patients with established vascular disease.European journal of clinical investigationMore Details
    24252255 An Antibody against the C-Terminal Domain of PCSK9 Lowers LDL Cholesterol Levels InVivo.Journal of molecular biologyMore Details
    24219970 Common genetic variants do not associate with CAD in familial hypercholesterolemia.European journal of human genetics : EJHGMore Details
    23642322 Emerging LDL therapies: Using human genetics to discover new therapeutic targets for plasma lipids.Journal of clinical lipidologyMore Details
    23997648 Autosomal dominant hypercholesterolemia: needs for early diagnosis and cascade screening in the tunisian population.Current genomicsMore Details
    23380588 Association between PCSK9 and LDLR gene polymorphisms with coronary heart disease: case-control study and meta-analysis.Clinical biochemistryMore Details
    23666884 Diagnosis and management of familial dyslipoproteinemias.Current cardiology reportsMore Details
    23578522 The next generation of novel low-density lipoprotein cholesterol-lowering agents: proprotein convertase subtilisin/kexin 9 inhibitors.Pharmacological research : the official journal of the Italian PharmacologicalMore Details
    24042129 Genetic risk assessment for cardiovascular disease in Azoreans (Portugal): a general population-based study.GeneMore Details
    23340035 Coronary computed tomographic angiographic findings in asymptomatic patients with heterozygous familial hypercholesterolemia and null allele low-density lipoprotein receptor mutations.The American journal of cardiologyMore Details
    23375686 Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.AtherosclerosisMore Details
    23369702 The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.AtherosclerosisMore Details
    22872154 Ces3/TGH deficiency improves dyslipidemia and reduces atherosclerosis in Ldlr(-/-) mice.Circulation researchMore Details
    22390909 "Cardiovascular risk in relation to functionality of sequence variants in the gene coding for the low-density lipoprotein receptor: a study among 29,365 individuals tested for 64 specific low-density lipoprotein-receptor sequence variants."European heart journalMore Details
    23054246 Use of targeted exome sequencing as a diagnostic tool for Familial Hypercholesterolaemia.Journal of medical geneticsMore Details
    22883975 Genetic analysis of familial hypercholesterolaemia in Western Australia.AtherosclerosisMore Details
    22893714 "Familial hypercholesterolemia in the danish general population: prevalence, coronary artery disease, and cholesterol-lowering medication."The Journal of clinical endocrinology and metabolismMore Details
    22220933 Sudden cardiac death in young adults: environmental risk factors and genetic aspects of premature atherosclerosis.Journal of forensic sciencesMore Details
    22419126 ABCA1 gene promoter DNA methylation is associated with HDL particle profile and coronary artery disease in familial hypercholesterolemia.Epigenetics : official journal of the DNA Methylation SocietyMore Details
    22160468 A novel mutation (Cys308Phe) of the LDL receptor gene in families from the South-Eastern part of Poland.Molecular biology reportsMore Details
    22244043 Molecular characterization of familial hypercholesterolemia in Spain.AtherosclerosisMore Details
    22408029 Advances in genetics show the need for extending screening strategies for autosomal dominant hypercholesterolaemia.European heart journalMore Details
    22199011 Association between chromosome 9p21 variants and the ankle-brachial index identified by a meta-analysis of 21 genome-wide association studies.Circulation. Cardiovascular geneticsMore Details
    22228254 Screening for familial hypercholesterolaemia.PathologyMore Details
    22698793 The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.AtherosclerosisMore Details
    22494195 Hypolipidemic effects of a new piperine derivative GB-N from Piper longum in high-fat diet-fed rats.Pharmaceutical biologyMore Details
    23050023 Association of genetic variants influencing lipid levels with coronary artery disease in Japanese individuals.PloS oneMore Details
    23056485 "Lipid lowering and HDL raising gene transfer increase endothelial progenitor cells, enhance myocardial vascularity, and improve diastolic function."PloS oneMore Details
    22780915 A novel multiplex polymerase chain reaction assay for profile analyses of gene expression in peripheral blood.BMC cardiovascular disordersMore Details
    23226021 Mipomersen and other therapies for the treatment of severe familial hypercholesterolemia.Vascular health and risk managementMore Details
    22355267 An anti-PCSK9 antibody reduces LDL-cholesterol on top of a statin and suppresses hepatocyte SREBP-regulated genes.International journal of biological sciencesMore Details
    22848640 Annexin A2 is a natural extrahepatic inhibitor of the PCSK9-induced LDL receptor degradation.PloS oneMore Details
    21889313 Chlamydia pneumoniae heat shock protein 60 is associated with apoptotic signaling pathway in human atheromatous plaques of coronary artery disease patients.Journal of cardiologyMore Details
    21862702 "Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk."Journal of lipid researchMore Details
    21310417 An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.AtherosclerosisMore Details
    20826022 Familial hypercholesterolemia and triglyceride metabolism.International journal of cardiologyMore Details
    21398511 siRNA-induced liver ApoB knockdown lowers serum LDL-cholesterol in a mouse model with human-like serum lipids.Journal of lipid researchMore Details
    21860704 Implications of discoveries from genome-wide association studies in current cardiovascular practice.World journal of cardiologyMore Details
    21777527 Two novel mutations in exon 3 and 4 of low density lipoprotein (LDL) receptor gene in patients with heterozygous familial hypercholesterolemia.Journal of the College of Physicians and Surgeons--Pakistan : JCPSPMore Details
    21657943 "Familial hypercholesterolemia: epidemiology, Neolithic origins and modern geographic distribution."Critical reviews in clinical laboratory sciencesMore Details
    21872251 A novel type of familial hypercholesterolemia: double heterozygous mutations in LDL receptor and LDL receptor adaptor protein 1 gene.AtherosclerosisMore Details
    22010136 Apolipoprotein isoform E4 does not increase coronary heart disease risk in carriers of low-density lipoprotein receptor mutations.Circulation. Cardiovascular geneticsMore Details
    21633520 Cascade Screening for Familial Hypercholesterolemia (FH).PLoS currentsMore Details
    20736250 A double heterozygote for familial hypercholesterolaemia and familial defective apolipoprotein B-100.Annals of clinical biochemistryMore Details
    20828696 Update of the Portuguese Familial Hypercholesterolaemia Study.AtherosclerosisMore Details
    20019594 Novel mutations identification in exon 4 of LDLR gene in patients with moderate hypercholesterolemia in a Venezuelan population.American journal of therapeuticsMore Details
    20144596 Moderate phenotypic expression of familial hypercholesterolemia in Tunisia.Clinica chimica acta; international journal of clinical chemistryMore Details
    20018285 Pseudoxanthoma elasticum and familial hypercholesterolemia: a deleterious combination of cardiovascular risk factors.AtherosclerosisMore Details
    20197419 A metabolomic study of the LDL receptor null mouse fed a high-fat diet reveals profound perturbations in choline metabolism that are shared with ApoE null mice.Physiological genomicsMore Details
    20428891 "Haplotype analyses, mechanism and evolution of common double mutants in the human LDL receptor gene."Molecular genetics and genomics : MGGMore Details
    19717150 Impact of low-density lipoprotein receptor mutational class on carotid atherosclerosis in patients with familial hypercholesterolemia.AtherosclerosisMore Details
    20810930 Polymorphisms at LDLR locus may be associated with coronary artery disease through modulation of coagulation factor VIII activity and independently from lipid profile.BloodMore Details
    20217239 Identification of a recurrent insertion mutation in the LDLR gene in a Pakistani family with autosomal dominant hypercholesterolemia.Molecular biology reportsMore Details
    20172854 A proprotein convertase subtilisin-like/kexin type 9 (PCSK9) C-terminal domain antibody antigen-binding fragment inhibits PCSK9 internalization and restores low density lipoprotein uptake.The Journal of biological chemistryMore Details
    19487412 Hypobetalipoproteinaemia secondary to chronic hepatitis C virus infection in a patient with familial hypercholesterolaemia.Annals of clinical biochemistryMore Details
    19635789 Dissection of the endogenous cellular pathways of PCSK9-induced low density lipoprotein receptor degradation: evidence for an intracellular route.The Journal of biological chemistryMore Details
    19081568 Degradation of LDLR protein mediated by 'gain of function' PCSK9 mutants in normal and ARH cells.AtherosclerosisMore Details
    19336475 Integrated associations of genotypes with multiple blood biomarkers linked to coronary heart disease risk.Human molecular geneticsMore Details
    19319977 The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.Human mutationMore Details
    19041195 [Familial hypercholesterolemia in Tunisia].Pathologie-biologieMore Details
    19001363 Structural and biochemical characterization of the wild type PCSK9-EGF(AB) complex and natural familial hypercholesterolemia mutants.The Journal of biological chemistryMore Details
    18648394 LDLR promoter variant and exon 14 mutation on the same chromosome are associated with an unusually severe FH phenotype and treatment resistance.European journal of human genetics : EJHGMore Details
    19446849 The type of LDLR gene mutation predicts cardiovascular risk in children with familial hypercholesterolemia.The Journal of pediatricsMore Details
    21637672 "Effects of APOE, APOB and LDLR variants on serum lipids and lack of association with xanthelasma in individuals from Southeastern Brazil."Genetics and molecular biologyMore Details
    18672372 PCSK9 and LDL cholesterol: unravelling the target to design the bullet.Trends in biochemical sciencesMore Details
    18261733 "Genetic variation at the LDL receptor and HMG-CoA reductase gene loci, lipid levels, statin response, and cardiovascular disease incidence in PROSPER."AtherosclerosisMore Details
    18067591 CD36 mRNA expression is increased in CD14+ monocytes of patients with coronary heart disease.Clinical and experimental pharmacology & physiologyMore Details
    18279815 Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.Translational research : the journal of laboratory and clinical medicineMore Details
    18355452 A novel splice site mutation of the LDL receptor gene in a Tunisian hypercholesterolemic family.Clinica chimica acta; international journal of clinical chemistryMore Details
    17765246 Familial hypercholesterolaemia in Portugal.AtherosclerosisMore Details
    18193043 Newly identified loci that influence lipid concentrations and risk of coronary artery disease.Nature geneticsMore Details
    18631360 Investigations on the evolutionary conservation of PCSK9 reveal a functionally important protrusion.The FEBS journalMore Details
    18162663 Effects of emulsified policosanols with different chain lengths on cholesterol metabolism in heterozygous LDL receptor-deficient mice.Journal of lipid researchMore Details
    18547436 Plasma PCSK9 levels are significantly modified by statins and fibrates in humans.Lipids in health and diseaseMore Details
    18714375 Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study.PloS oneMore Details
    17094996 Genetic defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.AtherosclerosisMore Details
    17889215 Combined cardiohepatic transplantation due to severe heterozygous familiar hypercholesteremia type II: first case in Argentina--a case report.Transplantation proceedingsMore Details
    17924833 Apolipoprotein polymorphisms and familial hypercholesterolemia.PharmacogenomicsMore Details
    17964958 LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.Journal of the Formosan Medical Association = Taiwan yi zhiMore Details
    17955342 Hyperlipoproteinaemia(a) is a common cause of autosomal dominant hypercholesterolaemia.Journal of inherited metabolic diseaseMore Details
    17335829 A rare polymorphism in the low density lipoprotein (LDL) gene that affects mRNA splicing.AtherosclerosisMore Details
    17483372 Update on dyslipidemia.The Journal of clinical endocrinology and metabolismMore Details
    17090611 Influence of LDL-receptor mutation type on age at first cardiovascular event in patients with familial hypercholesterolaemia.European heart journalMore Details
    16678832 A genome scan for loci influencing levels and trends of lipoprotein lipid-related traits since childhood: The Bogalusa Heart Study.AtherosclerosisMore Details
    17380167 Mechanisms of disease: genetic causes of familial hypercholesterolemia.Nature clinical practice. Cardiovascular medicineMore Details
    17502126 "Of PCSK9, cholesterol homeostasis and parasitic infections: possible survival benefits of loss-of-function PCSK9 genetic polymorphisms."Medical hypothesesMore Details
    16792510 Molecular genetic testing for familial hypercholesterolemia in the Netherlands: a stepwise screening strategy enhances the mutation detection rate.Genetic testingMore Details
    16343504 Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): a phenotypic comparison.AtherosclerosisMore Details
    17426749 Genetic susceptibility to heart disease in Canada: lessons from patients with familial hypercholesterolemia.Genome / National Research Council Canada = Genome / Conseil national deMore Details
    17044844 The A370T variant (StuI polymorphism) in the LDL receptor gene is not associated with plasma lipid levels or cardiovascular risk in UK men.Annals of human geneticsMore Details
    16389549 "Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.""Journal of molecular medicine (Berlin, Germany)"More Details
    16183066 Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia.AtherosclerosisMore Details
    16254208 Expression of neutrophil gelatinase-associated lipocalin in atherosclerosis and myocardial infarction."Arteriosclerosis, thrombosis, and vascular biology"More Details
    16252156 Importance of blood cellular genomic profile in coronary heart disease.Journal of biomedical scienceMore Details
    17142622 Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.Journal of medical geneticsMore Details
    16606962 Heterozygous familial hypercholesterolemia: an underrecognized cause of early cardiovascular disease.CMAJ : Canadian Medical Association journal = journal de l'Association medicaleMore Details
    16477380 "Peroxisome proliferator-activated receptor-alpha selective ligand reduces adiposity, improves insulin sensitivity and inhibits atherosclerosis in LDL receptor-deficient mice."Molecular and cellular biochemistryMore Details
    16831933 Osteogenic regulation of vascular calcification.Annals of the New York Academy of SciencesMore Details
    16776623 Polymorphisms associated with apolipoprotein B levels in Greek patients with familial hypercholesterolemia.Clinical chemistry and laboratory medicine : CCLM / FESCCMore Details
    16159606 Genetic screening protocol for familial hypercholesterolemia which includes splicing defects gives an improved mutation detection rate.AtherosclerosisMore Details
    16015283 Meta-analysis of four new genome scans for lipid parameters and analysis of positional candidates in positive linkage regions.European journal of human genetics : EJHGMore Details
    15926873 Berberine--a novel approach to cholesterol lowering.Expert opinion on investigational drugsMore Details
    16250003 Update of the molecular basis of familial hypercholesterolemia in The Netherlands.Human mutationMore Details
    16224054 Severe hypercholesterolemia in four British families with the D374Y mutation in the PCSK9 gene: long-term follow-up and treatment response."Arteriosclerosis, thrombosis, and vascular biology"More Details
    16098442 Functional and morphologic imaging of coronary atherosclerosis in living mice using high-resolution color Doppler echocardiography and ultrasound biomicroscopy.Journal of the American College of CardiologyMore Details
    15780535 A comparative study of efficacy of tibolone and simvastatin on atherosclerosis in ovariectomized cholesterol-fed rabbits.MaturitasMore Details
    15321838 Familial hypercholesterolemia and coronary heart disease: a HuGE association review.American journal of epidemiologyMore Details
    15321837 Genetic causes of monogenic heterozygous familial hypercholesterolemia: a HuGE prevalence review.American journal of epidemiologyMore Details
    12969990 Harmful effects of increased LDLR expression in mice with human APOE*4 but not APOE*3."Arteriosclerosis, thrombosis, and vascular biology"More Details
    15523646 LDL-receptor mutations in Europe.Human mutationMore Details
    15303010 New promoter mutations in the low-density lipoprotein receptor gene which induce familial hypercholesterolaemia phenotype: molecular and functional analysis.Journal of inherited metabolic diseaseMore Details
    14673705 Soluble epoxide hydrolase variant (Glu287Arg) modifies plasma total cholesterol and triglyceride phenotype in familial hypercholesterolemia: intrafamilial association study in an eight-generation hyperlipidemic kindred.Journal of human geneticsMore Details
    15459764 The important role for betaVLDLs binding at the fourth cysteine of first ligand-binding domain in the low-density lipoprotein receptor.Journal of human geneticsMore Details
    14506412 Dietary cholate is required for antiatherogenic effects of ethanol in mouse models."Alcoholism, clinical and experimental research"More Details
    15030301 Primary hypercholesterolemia: genetic causes and treatment of five monogenic disorders.Expert review of cardiovascular therapyMore Details
    12704424 Intravenous gene therapy for familial hypercholesterolemia using ligand-facilitated transfer of a liposome:LDL receptor gene complex.Gene therapyMore Details
    12705331 Detection of a novel exon 4 low-density lipoprotein receptor gene deletion in a swiss family with severe familial hypercholesterolemia.Clinical chemistry and laboratory medicine : CCLM / FESCCMore Details
    12730697 Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.Nature geneticsMore Details
    12626663 "AGI-1067: a multifunctional phenolic antioxidant, lipid modulator, anti-inflammatory and antiatherosclerotic agent."The Journal of pharmacology and experimental therapeuticsMore Details
    12475897 Pharmacological interference with intestinal bile acid transport reduces plasma cholesterol in LDL receptor/apoE deficiency.FASEB journal : official publication of the Federation of American Societies for More Details
    14557872 Evidence for substantial effect modification by gender in a large-scale genetic association study of the metabolic syndrome among coronary heart disease patients.Human geneticsMore Details
    12642779 Molecular mechanisms of autosomal recessive hypercholesterolemia.Current opinion in lipidologyMore Details
    12227864 Japanese familial hypercholesterolaemia with a 327insC mutation in the LDL receptor gene.Annals of clinical biochemistryMore Details
    12476935 Gene polymorphism and coronary risk factors in Indian population.Clinical chemistry and laboratory medicine : CCLM / FESCCMore Details
    11668627 "Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent."Human mutationMore Details
    11230170 A combinatorial partitioning method to identify multilocus genotypic partitions that predict quantitative trait variation.Genome researchMore Details
    11851376 Low-density lipoprotein receptor gene mutation analysis and clinical correlation in Belgian hypercholesterolaemics.Molecular and cellular probesMore Details
    11310584 A Chinese homozygote of familial hypercholesterolemia: identification of a novel C263R mutation in the LDL receptor gene.Journal of human geneticsMore Details
    10737984 Geographical clustering of low density lipoprotein receptor gene mutations (C292X; Q363X; D365E & C660X) in Cyprus.Human mutationMore Details
    10807540 Co-segregation of elevated LDL with a novel mutation (D92K) of the LDL receptor in a kindred with multiple lipoprotein abnormalities.Journal of human geneticsMore Details

    NOTEs: These result is mostly from TEXT-MINING and there might have mismatches.

    PPI interactions

    There were totally 15 unique genes interacted with LDLR. Show PPI network

    Gene nameInteraction typereference PMIDCHD relation
    DAB1 Two-hybrid10827173|10380922,9837937 No
    AP1M2 Affinity Capture-Western11157985 No
    LRPAP1 Reconstituted Complex7822276|7822276 CHD related
    SNX17 Reconstituted Complex12169628|12169628 No
    APOB in vivo12031600 CHD related
    APOE in vitro;in vivo12036962 CHD related
    LDLR in vitro10884290 CHD related
    PF4 Reconstituted Complex11986215 CHD related
    CD36 Reconstituted Complex9555943 CHD related
    DAB2 Reconstituted Complex11247302 CHD related
    LDLRAP1 Reconstituted Complex12221107 No
    HSPA5 Affinity Capture-MS10906332 No
    UBC Affinity Capture-Western19520913|22074827|21139048 No
    MYLIP Biochemical Activity21734303|21685362|22109552 No
    PCSK9 in vitro17435765 CHD related

    Involved FDA drugs

    StatusDrubBank IDNameIndicationATC Code
    approvedDB00707PorfimerIndicated in the treatment of esophageal cancer.L01XD01