Genes (47)
Species: human : 47 | |
Human | PCSK9 | 255738 | proprotein convertase subtilisin/kexin type 9 | PCSK9 binds the extracellular domain of LDL receptor; the D374Y gain-of-function mutant, associated with hypercholesterolemia and early-onset cardiovascular disease, binds the receptor 25 times more tightly than wild-type PCSK9 The cause of unusually severe dominant hypercholesterolemia is due to the effect of mutant PCKS9 on apolipoprotein B secretion Title:|Association:Not Found|Conclusion:Not Found identification of the minimal inhibitory sequence of AnxA2 should pave the way toward the development of PCSK9 inhibitory lead molecules for the treatment of hypercholesterolemia Title:|Association:Not Found|Conclusion:Not Found Title:Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.|Association:Y|Conclusion:Our findings support the notion that mutations in the PCSK9 gene cause autosomal dominant hypercholesterolemia. Mutations and variations occur in hypercholesterolemia--a regulator of cholesterol metabolism | Human | ABCG8 | 64241 | ATP-binding cassette, sub-family G (WHITE), member 8 | Hypercholesterolemia (elevated plasma cholesterol) In Chilean patients, the ABCG5 1950C>G polymorphism, but not the ABCG8 251A>G polymorphism, was found to be associated with hypercholesterolemia links between polymorphisms of ABC G8A (ABCG8) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) Coexistence of higher insulin resistance and hypercholesterolemia for carriers of the aspartate-19-histidine polymorphism may result in a greater risk of cardiovascular disease Title:ATP binding cassette transporter G5 And G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin|Association:Not Found|Conclusion:These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDL cholesterol-lowering response to atorvastatin therapy. in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy | Human | ABCG5 | 64240 | ATP-binding cassette, sub-family G (WHITE), member 5 | Title:ATP binding cassette transporter G5 And G8 genotypes and plasma lipoprotein levels before and after treatment with atorvastatin|Association:Y|Conclusion:These results suggest that, in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDL cholesterol-lowering response to atorvastatin therapy. in patients with hypercholesterolemia, the ABCG8 D19H variant is associated with greater LDLC-lowering response to atorvastatin therapy links between polymorphisms of ABC G5 (ABCG5) transporter gene to hypercholesterolemia and to gallstone disease risk (Review) Hypercholesterolemia (elevated plasma cholesterol) | Human | APOB48R | 55911 | | Nucleotide variations in the apolipoprotein B48 receptor gene is associated with hypercholesterolemia | Human | APTX | 54840 | aprataxin | Hypercholesterolemia (in 75%) | Human | NPC1L1 | 29881 | NPC1-like 1 | NPC1L1 has a role in lipid transport and in diet-induced hypercholesterolemia | Human | LDLRAP1 | 26119 | low density lipoprotein receptor adaptor protein 1 | Dab2 expression is exceptionally low in hepatocytes, likely accounting for the pathological hypercholesterolemia that accompanies ARH loss | Human | C7orf16 | 10842 | | Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes Single nucleotide polymorphism in the GSBS gene is associated with hypercholesterolemia | Human | SREBF2 | 6721 | sterol regulatory element binding transcription factor 2 | Title:Determinants of variable response to simvastatin treatment: the role of common variants of SCAP,SREBF-1a and SREBF-2 genes.|Association:Not Found|Conclusion: | Human | SREBF1 | 6720 | sterol regulatory element binding transcription factor 1 | Title:Determinants of variable response to simvastatin treatment: the role of common variants of SCAP,SREBF-1a and SREBF-2 genes.|Association:Not Found|Conclusion: Title:|Association:Not Found|Conclusion:Not Found | Human | SOD1 | 6647 | superoxide dismutase 1, soluble | The present study demonstrated that both SOD1 and the metal-free form of enzyme (Apo SOD1) inhibit HMG-CoA reductase gene expression in HepG2 cells, in normal human fibroblasts, and in fibroblasts of subjects affected by familiar hypercholesterolemia | Human | SELP | 6403 | selectin P (granule membrane protein 140kDa, antigen CD62) | Hypercholesterolemia primes platelets for recruitment via VWF, GPIb alpha, and P-selectin to lesion-prone sites, before lesions are detectable | Human | SELE | 6401 | selectin E | Our results show that E-selectin gene polymorphisms represent an increased risk for ischemic CVD in the Japanese population without diabetes mellitus and hypercholesterolemia Study points to synergistic interactions between 561A > C or 98G > T polymorphisms of E-selectin gene and hypercholesterolemia that cause a significant increase in the susceptibility to coronary artery disease | Human | PON1 | 5444 | paraoxonase 1 | Title:Antioxidant effect of atorvastatin is independent of PON1 gene T(-107)C, Q192R and L55M polymorphisms in hypercholesterolaemic patients.|Association:Not Found|Conclusion:These results show, for the first time, that atorvastatin is able to improve the resistance to LDL oxidation independently of PON1 gene polymorphism. Title:Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.|Association:Not Found|Conclusion: | Human | ABCB1 | 5243 | ATP-binding cassette, sub-family B (MDR/TAP), member 1 | Title:The association of common SNPs and haplotypes in the CETP and MDR1 genes with lipids response to fluvastatin in familial hypercholesterolemia.|Association:Not Found|Conclusion:CETP and MDR1 have independent effects on lipid changes following fluvastatin treatment. The results of this study may lead to an improved understanding of the genetic determinants of lipids response to treatment. Title:Polymorphisms in the multidrug resistance-1 (MDR1) gene influence the response to atorvastatin treatment in a gender-specific manner.|Association:Not Found|Conclusion:The C3435T polymorphism was significantly and independently associated with a smaller reduction in low-density lipoprotein cholesterol and with a larger increase in high-density lipoprotein cholesterol, relative to variant allele carriers, in a gender-specific manner. Also, haplotype determination combined with these polymorphisms identified a subgroup that showed a striking response to treatment, which was not defined by a single polymorphism. elevated cellular cholesterol levels can markedly increase P-gp activity in human PBMCs | Human | SERPINE1 | 5054 | serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 | Metabolic syndrome and hypercholesteremia synsynergistically accelerates inflammation and impairment of fibrinolysis via elevated concentrations of PAI-1, which inhibit fibrinolysis | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | ENOS Glu298Asp polymorphism was associated with hypercholesterolemia | Human | TRNI | 4565 | tRNA | in a kindred with a syndrome including hypertension, hypercholesterolemia & hypomagnesemia, analysis of maternal lineage mitochondrial genome identified a mutation substituting cytidine for uridine immediately 5' to the mitochondrial TRNA(Ile) anticodon | Human | LPL | 4023 | lipoprotein lipase | Title:Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.|Association:Not Found|Conclusion: Title:Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.|Association:Not Found|Conclusion:These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes. | Human | LIPC | 3990 | lipase, hepatic | Title:Genetic determinants of plasma HDL-cholesterol levels in familial hypercholesterolemia.|Association:Not Found|Conclusion: Title:Genetic polymorphisms affecting the phenotypic expression of familial hypercholesterolemia.|Association:Not Found|Conclusion:These findings show that several common genetic variants influence the lipid phenotype and the CAD risk in FH heterozygotes. The -250G>A promoter variant in hepatic lipase associates with elevated fasting serum high-density lipoprotein cholesterol modulated by interaction with physical activity | Human | LEPR | 3953 | leptin receptor | Ob-R gene may serve as a novel modifier gene for hypercholesterolemia in Japanese men | Human | LDLR | 3949 | low density lipoprotein receptor | Click here to display 17 evidence detail records. | Human | ITIH4 | 3700 | inter-alpha-trypsin inhibitor heavy chain family, member 4 | Title:Hypercholesterolemia associated with splice-junction variation of inter-alpha-trypsin inhibitor heavy chain 4 (ITIH4) gene.|Association:Y|Conclusion:These data suggest that genetic variation at ITIH4 locus is one of the likely candidate determinants for plasma cholesterol metabolisms. Hypercholesterolemia, 350-550 mg/L in heterozygotes, 650-1000 mg/L in homozygotes | Human | HMOX1 | 3162 | heme oxygenase (decycling) 1 | Length polymorphism in the HO-1 gene promoter is related to coronary artery disease susceptibility in Japanese people who also have coronary risk factors such as hypercholesterolemia, diabetes, and smoking | Human | HMGCR | 3156 | 3-hydroxy-3-methylglutaryl-CoA reductase | These results suggest that the HMGCR gene may serve as a modifier gene for hypercholesterolemia in Chinese diabetic patients |
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