FH clinical phenotype in Greek patients with LDL‐R defective vs. negative mutations

Dedoussis, George; Skoumas, John; Pitsavos, C.; Choumerianou, Despoina M.; Genschel, Janine; Schmidt, H.; Stefanadis, Christodoulos

doi:10.1111/j.1365-2362.2004.01351.x

Cited by 34 publications

(14 citation statements)

References 33 publications

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“…Mutation prevalence in the proband group was 34.2% compared to 50.9% in the group of relatives consistent with earlier reports [3,18]. However, as the prevalence in probands depends on the inclusion criteria and the test used different prevalences have been reported for probands.…”

Section: Discussionsupporting

confidence: 85%

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study

Nybo

Brusgaard

Hansen

2007

Clinical Biochemistry

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Section: Discussionsupporting

confidence: 85%

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study

Nybo

Brusgaard

Hansen

2007

Clinical Biochemistry

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“…In that study, it was hypothesized that the differential binding to ANP of small and medium HDLs could be the result of the exposure of a larger number of hydrophobic domains in small HDLs due to the partial delipidation that occurs during the remodeling process. Unforeseen were the lower levels of LDL-C, which could be attributed to the type of LDLR mutation, since as we have previously shown the type of LDLR defect affects the LDL-C levels (23). Additionally, other lipid-lowering genes have been reported to affect LDL-C levels in FH patients (24).…”

Section: Discussionmentioning

confidence: 93%

Natriuretic peptide Val7Met substitution and risk of coronary artery disease in Greek patients with familial hypercholesterolemia

Dedoussis

Maumus

Skoumas

et al. 2006

J. Clin. Lab. Anal.

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Atrial natriuretic peptide (ANP or NPPA) is the precursor protein of the form of amyloidosis called isolated atrial amyloid (IAA), which is related to the increased incidence of cardiac pathological conditions with age. Familial hypercholesterolemia (FH) patients are characterized by high concentrations of low-density lipoprotein cholesterol (LDL-C), which frequently gives rise to premature coronary artery disease (CAD). However, not all FH patients have the same clinical phenotype. The aim of the present study was to assess the relationship between ANP polymorphisms and apolipoprotein (Apo) A1 levels and CAD risk in FH patients. Transition T2238C, which leads to ANP with two additional arginines, and G664A (Val7Met) were investigated with lipid values and clinical phenotype in 83 FH patients. ApoA1 and HDL cholesterol levels were lower in GA patients compared to GG homozygotes for the G664A polymorphism. No association was found between the G664A polymorphism and CAD in our population. Moreover, ApoA1 and high-density lipoprotein cholesterol (HDL-C) levels did not differ among the different genotypes of the T2238C polymorphism, even after adjusting for age and sex. The 664A allele of the ANP polymorphism is associated with lower levels of ApoA1 and HDL-C in FH patients, but not with CAD risk. Concerning the T2238C polymorphism, no effect was found on lipid parameters or CAD incidence.

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“…In Greece, 16 mutations in the LDLR are responsible for heterozygous FH and among them V408M, G528D, C6W and S265R account for 73% of heterozygous FH probands [2,3]. The impact of these mutations on the LDL-R function has been characterised by considerable variability and in this regard we have previously shown that the carriers of receptor negative mutations have higher levels of total cholesterol (TC), LDL cholesterol and higher prevalence of TX compared to carriers of receptor defective mutations [3]. However, the great variability in lipid levels and the prevalence of CAD may not be solely explained by the type of LDLR mutation.…”

Section: Introductionmentioning

confidence: 99%

Apolipoprotein E polymorphism is not associated with lipid levels and coronary artery disease in Greek patients with familial hypercholesterolaemia

et al. 2005

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Familial hypercholesterolaemia is a genetic disorder characterised by high low-density lipoprotein (LDL) cholesterol concentrations, which frequently gives rise to premature coronary artery disease (CAD). The clinical expression of familial hypercholesterolaemia is highly variable even in patients carrying the same LDL receptor gene mutation. This variability may be due to environmental and other genetic factors. Apolipoprotein E (Apo-E) has been extensively studied for its effects on the phenotype of familial hypercholesterolaemia. In this study we examined the influence of Apo-E genotype on lipid parameters and the incidence of CAD in 93 Greek patients with familial hypercholesterolaemia. Apo-E E2, E3 and E4 allele frequencies were 0.06, 0.86 and 0.09 respectively. The levels of total cholesterol, LDL cholesterol, HDL cholesterol, triglycerides, apolipoproteins A and B and lipoprotein alpha did not differ significantly among carriers and non-carriers of the E4 allele. The prevalence of CAD and hypertension did not differ either. Our results suggest that the E4 allele is not associated with lipid levels or with the prevalence of CAD among familial hypercholesterolaemia patients of the Greek population.

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FH clinical phenotype in Greek patients with LDL‐R defective vs. negative mutations

Abstract: The homogenous molecular basis of familial hypercholesterolaemia in Greece facilitates the application of a DNA diagnostic strategy based on the origin of the patient. The early mutation analysis would add valuable information on the severity of the disease.

Cited by 34 publications

References 33 publications

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study

No certain predictors for mutation status in a Danish cohort with familial hypercholesterolemia: A descriptive study

Natriuretic peptide Val7Met substitution and risk of coronary artery disease in Greek patients with familial hypercholesterolemia

Apolipoprotein E polymorphism is not associated with lipid levels and coronary artery disease in Greek patients with familial hypercholesterolaemia

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