Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:4.1.1.6 (CAD)
 4,420 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The diagnosis of familial hypercholesterolemia (FH) in unselected children is difficult due to the frequent overlap of cholesterol values in affected and non-affected and the paucity of physical signs. Nevertheless, detection and treatment of FH in childhood has been advocated to prevent atherosclerosis in these patients. Here, we report the results of a screening program in a cohort of 157 unrelated, hypercholesterolemic (HC) children (age range 2-15 years; mean 8.3+/-3.4 years) carried out by a combination of family study and molecular analysis of the LDLR gene. On the basis of the familial phenotype, 27 (17.2%) were classified as probable FH and 49 (31.2%) as affected by FCHL. Among probable FH children, 14 (51.8%) carried mutant LDLR alleles, giving an overall 8.9% prevalence of FH. Most of LDLR variants were already reported, but three new mutations G266C, T368M, and D451Y were identified. Beside increased TC and LDL-C (p<0.001), FH children showed decreased HDL-C (p<0.05) and higher prevalence of family history of CAD when compared to non-FH children. None presented tendon xanthomas. We estimated that LDL-C >3.9 mmol/L was the best cut off value for diagnosing FH in these children, showing 79% sensitivity and 71.0% specificity. We propose the use of a LDL-C cut off level associated with a family study to identify FH among HC children.
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PMID:Detection of familial hypercholesterolemia in a cohort of children with hypercholesterolemia: results of a family and DNA-based screening. 1719 9

Lipoproteins play a central role in the development of atherosclerotic disease. So, with their ability to affect lipid levels, the LDLR, ApoB and ApoE polymorphisms could be one of the factors influencing development of atherosclerosis. This hypothesis has been tested in different populations with conflicting results. The purpose of the present study was to investigate the association between the LDLR, ApoB and ApoE genes polymorphisms with premature CAD (PCAD) in Egyptians. One hundred thirty-five patients of PCAD and one hundred thirty-two ages and sex matched control subjects were included in the study. LDLR and ApoB genes polymorphisms were analyzed by polymerase chain reaction (PCR). The ApoE genotypes were identified by multiplex amplification refractory mutation system (multi-AMRS). We found that LDLR A(+)A(+) genotype, ApoB X(+) allele and ApoE E4 allele increased the risk of PCAD by 1.8, 2.1 and 12.1 respectively. The present study proved that smoking, metabolic syndrome, ApoB X(+)X(+) genotype and ApoE E4 allele were independent risk factors for the development of PCAD. This is the first study investigate the association between low density lipoprotein receptor, apolipoprotein B and apolipoprotein E genes polymorphisms with PCAD and lipid levels in Egyptians and we concluded that the LDLR A(+)A(+) genotype, ApoB X(+) allele and ApoE E4 allele may be associated with an increased risk for development of PCAD by elevated levels of total cholesterol (TC) and low density lipoprotein (LDLc). The coexistence of CAD risk factors with LDLR A(+)A(+) genotype, ApoB X(+) allele and ApoE E4 allele may increase the risk of the development of PCAD in Egyptian patients.
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PMID:LDLR, ApoB and ApoE genes polymorphisms and classical risk factors in premature coronary artery disease. 2723 33