|
rs121908025
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We studied the response to treatment with fluvastatin in 28 patients with heterozygous familial hypercholesterolemia as a result of a receptor-negative mutation (Trp23-stop) and in 30 patients with a receptor-binding defective mutation (Trp66-Gly) to test the hypothesis that response to treatment depends on the type of mutation.
|
11453971 |
2001 |
|
rs121908025
|
|
|
0.040 |
GeneticVariation |
BEFREE |
To measure LDL receptor activity in patients with heterozygous familial hypercholesterolemia (FH), we prepared peripheral blood mononuclear cells from individuals with molecularly verified LDL receptor defective (Trp66-Gly mutation, n = 18) or receptor negative (Trp23-stop mutation, n = 17) heterozygous FH and from healthy individuals (n = 24).
|
10331627 |
1999 |
|
rs121908025
|
|
|
0.040 |
GeneticVariation |
BEFREE |
We prepared peripheral blood mononuclear cells from patients with genetically verified LDL receptor-defective (Trp66-Gly mutation, n = 17) or receptor-negative (Trp23-stop mutation, n = 17) heterozygous familial hypercholesterolemia (FH) and from healthy individuals (n = 24).
|
9590369 |
1998 |
|
rs121908025
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In 20 apparently unrelated Danish patients with a clinical diagnosis of heterozygous familial hypercholesterolemia (FH), we identified 13 different mutations in the LDL receptor gene: two silent (C331C, N494 N); five missense (W66G, E119K, T383P, W556S, T7051); one nonsense (W23X); three splice-site (313 + 1G-->A, 1061-8T-->C, 1846-1G-->A); and two frameshift (335del10, 1650delG) mutations.
|
8697568 |
1996 |
|
rs368657165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
In 20 apparently unrelated Danish patients with a clinical diagnosis of heterozygous familial hypercholesterolemia (FH), we identified 13 different mutations in the LDL receptor gene: two silent (C331C, N494 N); five missense (W66G, E119K, T383P, W556S, T7051); one nonsense (W23X); three splice-site (313 + 1G-->A, 1061-8T-->C, 1846-1G-->A); and two frameshift (335del10, 1650delG) mutations.
|
8697568 |
1996 |
|
rs368657165
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Characterization of a disease-causing Glu119-Lys mutation in the low-density lipoprotein receptor gene in two Danish families with heterozygous familial hypercholesterolemia.
|
7981713 |
1994 |
|
rs599839
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The frequency of the protective G-allele of the rs599839 polymorphism was lower in HeFH patients with CHD compared with those HeFH patients without CHD.
|
29714125 |
2018 |
|
rs3846662
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To assess the contribution of the rs3846662 polymorphism of HMGCR on serum lipid levels and statin efficacy, we measured in vivo HMGCR mRNA and lipid levels in French Canadian individuals affected by heterozygous familial hypercholesterolemia due to the deletion of more than 15 kb of the LDLR gene.
|
26466344 |
2016 |
|
rs1057519661
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found positive correlations of the same magnitude between PCSK9 and LDL-C levels in controls (beta = 0.22; p = 0.0003), D206E (beta = 0.20; p = 0.0002), V408M (beta = 0.24; p = 0.0002), and D154N (beta = 0.25; p = 0.048) patients with HeFH.
|
24632287 |
2014 |
|
rs121908028
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found positive correlations of the same magnitude between PCSK9 and LDL-C levels in controls (beta = 0.22; p = 0.0003), D206E (beta = 0.20; p = 0.0002), V408M (beta = 0.24; p = 0.0002), and D154N (beta = 0.25; p = 0.048) patients with HeFH.
|
24632287 |
2014 |
|
rs121908033
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found positive correlations of the same magnitude between PCSK9 and LDL-C levels in controls (beta = 0.22; p = 0.0003), D206E (beta = 0.20; p = 0.0002), V408M (beta = 0.24; p = 0.0002), and D154N (beta = 0.25; p = 0.048) patients with HeFH.
|
24632287 |
2014 |
|
rs28942078
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found positive correlations of the same magnitude between PCSK9 and LDL-C levels in controls (beta = 0.22; p = 0.0003), D206E (beta = 0.20; p = 0.0002), V408M (beta = 0.24; p = 0.0002), and D154N (beta = 0.25; p = 0.048) patients with HeFH.
|
24632287 |
2014 |
|
rs759003763
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study indicates that MYLIP p.N342S might be a pharmacogenetic marker for lipid-lowering therapy in patients with FH.
|
25171759 |
2014 |
|
rs879254850
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study indicates that MYLIP p.N342S might be a pharmacogenetic marker for lipid-lowering therapy in patients with FH.
|
25171759 |
2014 |
|
rs9370867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Our study indicates that MYLIP p.N342S might be a pharmacogenetic marker for lipid-lowering therapy in patients with FH.
|
25171759 |
2014 |
|
rs11887534
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we examined associations between the D19H and T400K polymorphisms in the ABCG8 gene and CVD in a large cohort study of 2012 patients with heterozygous familial hypercholesterolemia (FH).
|
18977479 |
2009 |
|
rs1217691063
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia.
|
20065615 |
2009 |
|
rs4148217
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Therefore, we examined associations between the D19H and T400K polymorphisms in the ABCG8 gene and CVD in a large cohort study of 2012 patients with heterozygous familial hypercholesterolemia (FH).
|
18977479 |
2009 |
|
rs758493253
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia.
|
20065615 |
2009 |
|
rs1045642
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Twenty children with HeFH (aged 4.9-15.6 years) and 12 cardiac transplant recipients (aged 4.4-18.7 years and receiving triple immunosuppressive medication) who had participated in previous pharmacokinetic and pharmacodynamic studies with pravastatin were genotyped for the -11187G > A and 521T > C SNPs in the SLCO1B1 gene and for the 2677G > T/A and 3435C > T SNPs in the ABCB1 gene.
|
16722833 |
2006 |
|
rs2032582
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Twenty children with HeFH (aged 4.9-15.6 years) and 12 cardiac transplant recipients (aged 4.4-18.7 years and receiving triple immunosuppressive medication) who had participated in previous pharmacokinetic and pharmacodynamic studies with pravastatin were genotyped for the -11187G > A and 521T > C SNPs in the SLCO1B1 gene and for the 2677G > T/A and 3435C > T SNPs in the ABCB1 gene.
|
16722833 |
2006 |
|
rs4149056
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Twenty children with HeFH (aged 4.9-15.6 years) and 12 cardiac transplant recipients (aged 4.4-18.7 years and receiving triple immunosuppressive medication) who had participated in previous pharmacokinetic and pharmacodynamic studies with pravastatin were genotyped for the -11187G > A and 521T > C SNPs in the SLCO1B1 gene and for the 2677G > T/A and 3435C > T SNPs in the ABCB1 gene.
|
16722833 |
2006 |
|
rs137852912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.
|
16224054 |
2005 |
|
rs879254925
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Analysis of long-term (30 years) clinical history and response to treatment of 13 patients with the D374Y mutation of PCSK9 (PCSK9 patients) from 4 unrelated white British families compared with 36 white British patients with heterozygous familial hypercholesterolemia attributable to 3 specific mutations in the low-density lipoprotein (LDL) receptor gene (LDLR) known to cause severe phenotype.
|
16224054 |
2005 |
|
rs1249040838
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We investigated Apo E (2, 3, 4), MTP (-493G/T), Apo B (-516C/T), Apo A-V (-1131T/C), HL (-514C/T and -250G/A), FABP-2 (A54T), LPL (D9N, N291S, S447X) and ABCA1 (R219K) polymorphisms in 221 unrelated FH index cases and 349 FH relatives with defined LDL-R gene mutations.
|
15135251 |
2004 |