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Genes (18)
Species: human : 18 | |
Human | APOA5 | 116519 | apolipoprotein A-V | Excess risk for low HDL-Cholesterol, dyslipidemia and metabolic syndrome is associated with the rare alleles of the APOA5 SNPs and non-carriers of common haplotype in women | Human | PPARGC1A | 10891 | peroxisome proliferator-activated receptor gamma, coactivator 1 alpha | The activated proinflammatory state of monocytes and MDM in low HDL-C subjects constitutes a novel parameter of risk associated with HDL deficiency, related to altered expression of metallothionein genes and the reciprocal regulation of PPARgamma | Human | ALMS1 | 7840 | Alstrom syndrome 1 | | Human | UCP2 | 7351 | uncoupling protein 2 (mitochondrial, proton carrier) | 2 SNPs in UCP2, -866G>A and +4787C>T (A55V) that were tightly linked (r(2) = 0.97), were significantly associated with decreased HDL cholesterol levels in Korean women | Human | UCP1 | 7350 | uncoupling protein 1 (mitochondrial, proton carrier) | These results suggest that the GG genotype may be an independent protective factor associated with low HDL-cholesterolemia in this population, although the role of the UCP-1 A-3826G polymorphism in HDL-C is complex and remains controversial | Human | SMPD1 | 6609 | sphingomyelin phosphodiesterase 1, acid lysosomal | the two common coding variants at the SMPD1 gene locus are not associated with low HDL-cholesterol levels in the French Canadian population Decreased HDL cholesterol | Human | PPP1R3A | 5506 | protein phosphatase 1, regulatory subunit 3A | Decreased HDL cholesterol | Human | PPARG | 5468 | peroxisome proliferator-activated receptor gamma | Decreased HDL cholesterol | Human | PPARD | 5467 | peroxisome proliferator-activated receptor delta | The activated proinflammatory state of monocytes and MDM in low HDL-C subjects constitutes a novel parameter of risk associated with HDL deficiency, related to altered expression of metallothionein genes and the reciprocal regulation of PPARdelta | Human | NOS3 | 4846 | nitric oxide synthase 3 (endothelial cell) | Endothelial progenitor cell (EPC) colony levels are significantly lower in individuals with low HDL, and HDL increases eNOS and decreases pro-MMP-9 in EPCs | Human | LPL | 4023 | lipoprotein lipase | Title:|Association:Y|Conclusion:Not Found | Human | LMNA | 4000 | lamin A/C | Decreased HDL cholesterol | Human | LCAT | 3931 | lecithin-cholesterol acyltransferase | tested whether rare sequence variants of ABCA1, APOA1, and LCAT collectively contribute to variation in plasma levels of high density lipoprotein cholesterol; nonsynonymous sequence variants were significantly more common in individuals with low HDL-C Decreased plasma HDL (<1/10 of normal levels) | Human | IL6 | 3569 | interleukin 6 (interferon, beta 2) | present study provides the epidemiological evidence that IL-6 is one of the main correlates of low HDL-C levels in older individuals | Human | CYP1B1 | 1545 | cytochrome P450, family 1, subfamily B, polypeptide 1 | This study found a significant association between CYP1B1 expression and decreased HDL cholesterol levels in incinerator workers | Human | CETP | 1071 | cholesteryl ester transfer protein, plasma | Cholesteryl ester transfer protein, plasma (CETP) Taq1B gene polymorphism is an association with low HDL cholesterol levels in patients with type II diabetes mellitus and healthy controls | Human | APOA1 | 335 | apolipoprotein A-I | Despite their very low HDL levels, apoA-I(M) carriers do not display typical features of impaired vascular function because of an improved activity of apoA-I(M) HDL in maintaining endothelial cell homeostasis Infusion of APOA1 into fasting healthy male subjects activated FVII, increased TAT complex blood levels, and decreased HDL triglyceride blood levels tested whether rare sequence variants of ABCA1, APOA1, and LCAT collectively contribute to variation in plasma levels of high density lipoprotein cholesterol; nonsynonymous sequence variants were significantly more common in individuals with low HDL-C Efflux defects are frequent in low HDL syndromes, but the majority of HDL deficient subjects with cellular cholesterol efflux defects do not harbor ABCA1 mutations, suggesting that novel pathways contribute to this phenotype | Human | ABCA1 | 19 | ATP-binding cassette, sub-family A (ABC1), member 1 | R219K polymorphism of ABCA1 related with low HDL in overweight/obese Thai males ABCA1 gene sequence in a proband with very low HDL cholesterol and premature coronary heart disease family history revealed 2 mutations: G5947A (R1851Q) and single thymidine deletion in a polypyrimidine tract 33 to 46 bps upstream from start of exon 47 tested whether rare sequence variants of ABCA1, APOA1, and LCAT collectively contribute to variation in plasma levels of high density lipoprotein cholesterol; nonsynonymous sequence variants were significantly more common in individuals with low HDL-C Results suggest that defective ABCA1 function in cholesterol-loaded macrophages is one potential contributor to the impaired reverse cholesterol transport process and the increased coronary heart disease risk in subjects with familial low HDL ABCA1 gene I823M polymorphism altered plasma HDL-C level and also modified the effect of low-HDL-C on the risk of CAD |
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