APOA1, apolipoprotein A1, 335

N. diseases: 416; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE We investigated the effect of dalcetrapib treatment on phytosterol levels in patients with familial combined hyperlipidemia (FCH) or familial hypoalphalipoproteinemia (FHA) due to mutations in apolipoprotein A1 (ApoA1) or ATP-binding cassette transporter A1 (ABCA1). 25281277 2014
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Associations of polymorphisms in the apolipoprotein A1/C3/A4/A5 gene cluster with familial combined hyperlipidaemia in Hong Kong Chinese. 19732897 2010
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 Biomarker disease BEFREE This observation suggests that the low HDL-C/low Apo A-I phenotype may result from a genetic defect directly affecting HDL metabolism, even in the context of a dyslipidemia which, like FCHL, is associated with low plasma HDL-C. 17950741 2008
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 Biomarker disease LHGDN Patients with FCHL have increased carotid IMT that is strongly related to the apoB/apoA-I ratio, a measure of overall lipid abnormalities. 17698072 2008
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 Biomarker disease BEFREE Apolipoprotein A1 provided an OR of 0.95 (0.94-0.97, P<0.001) in FCHL families and OR of 0.94 (0.90-0.97, P=0.011) in FH families, but neither in FHTG nor in normolipidemic families (both P>0.05). 16828905 2007
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 AlteredExpression disease BEFREE Apo AI levels tended to be low in FCHL and were decreased in 'coronary disease with low-HDL cholesterol'. 16629853 2006
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 Biomarker disease BEFREE In addition, several candidate gene studies have replicated the influence of the lipoprotein lipase (LPL) gene and apolipoprotein A1/C3/A4/A5 (APOA1/C3/A4/A5) gene cluster in FCHL. 16938803 2006
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Combined linkage and association analyses provide compelling evidence for the involvement of two distinct alleles at the APOA1/C3/A4/A5 gene cluster in the transmission of FCHL. 14764618 2004
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE A combined linkage and association analysis establishes that variation at the APOA1/C3/A4/A5 gene cluster contributes to FCHL transmission in a substantial proportion of northern European families. 14551155 2004
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Association of the APOLIPOPROTEIN A1/C3/A4/A5 gene cluster with triglyceride levels and LDL particle size in familial combined hyperlipidemia. 15001527 2004
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE In addition, analysis of four candidate genes putatively involved in the expression of FCHL showed no evidence of linkage for the LCAT gene or the APOA1/C3/A4/A5 gene cluster. 15469419 2004
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Linkage and association of the apo AI-CIII-IV gene region to familial combined hyperlipidemia (FCHL) was reported previously, based on the presence of genetic variants in the apo CIII and apo AI gene. 11583715 2001
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 Biomarker disease BEFREE In addition, previously reported linkage of FCHL to apolipoprotein A-I/C-III/A-IV has been investigated in FHS families. 11031215 2000
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Haplotypes of the ApoA-I/C-III/A-IV gene cluster and familial combined hyperlipidemia. 9812922 1998
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Complex genetic contribution of the Apo AI-CIII-AIV gene cluster to familial combined hyperlipidemia. Identification of different susceptibility haplotypes. 9062353 1997
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 GeneticVariation disease BEFREE Association between genetic variation at the APO AI-CIII-AIV gene cluster and familial combined hyperlipidaemia. 7889654 1994
CUI: C0020474
Disease: Hyperlipidemia, Familial Combined
Hyperlipidemia, Familial Combined
0.100 AlteredExpression disease BEFREE The other 44 FDH patients without FCHL had 33% lower HDL (p = 0.0001), with only 8% lower apolipoprotein A-I levels (p = 0.20); significantly higher subscapular skinfolds (p = 0.02), weights (p = 0.002), body mass index (p = 0.006), knee widths (p = 0.0007), and wrist circumferences (p = 0.0009); smaller, denser LDL subfractions (p = 0.001); and increased apolipoprotein B levels (p = 0.01) compared to the normolipidemic hypertensive group. 2497719 1989