Search results for "ABCG8"

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Cholelithiasis in Patients with Gaucher Disease type 1: Risk Factors and the Role of ABCG5/ABCG8 Gene Variants

2016

Background & Aim: Patients with Gaucher disease type 1 (GD1) show an altered lipid profile and a certain degree of insulin resistance, which might contribute to cholelithiasis (CL) and could possibly be associated with ABCG5/ABCG8 gene variants. We aimed to investigate the prevalence of CL in Caucasian adult patients with GD1 and the possible risk factors, including gene variants of the ABCG5/ABCG8 genes.
 Methods: 61 Caucasian patients with GD1 (38 female/23male), aged 18-62 years and 61 healthy subjects matched for age, gender and BMI, without CL, for comparison of lipid profiles. Data before start of enzyme replacement therapy (ERT) were recorded: clinical, haematological, sever…

AdultMale0301 basic medicineHeterozygotemedicine.medical_specialtyAdolescentLipoproteinsmedicine.medical_treatmentSplenectomyABCG8030105 genetics & heredityGastroenterologyWhite PeopleYoung Adult03 medical and health sciencesInsulin resistanceGene FrequencyCholelithiasisRisk FactorsInternal medicineGenotypePrevalencemedicineHumansEnzyme Replacement TherapyGenetic Predisposition to DiseaseATP Binding Cassette Transporter Subfamily G Member 5Genetic Association StudiesGaucher Diseasemedicine.diagnostic_testRomaniabusiness.industryATP Binding Cassette Transporter Subfamily G Member 8HomozygoteGastroenterologyCase-control studyGenetic VariationEnzyme replacement therapyMiddle Agedmedicine.diseaseCross-Sectional StudiesPhenotypeCase-Control StudiesGlucosylceramidaseFemaleLipid profilebusinessDyslipidemiaJournal of Gastrointestinal and Liver Diseases
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Cholesterol and saturated fat intake determine the effect of polymorphisms at ABCG5/ABCG8 genes on lipid levels in children.

2006

Purpose: Analysis of mutations in genes of the cholesterol metabolic pathway has not completely explained the interindividual variability of blood cholesterol concentrations attributed to gene–nutrient interactions. Thus, we analyzed polymorphisms in the ABCG5 and ABCG8 genes, involved in the regulation of intestinal cholesterol absorption, with special interest in a potential interaction with diet to determine lipid levels. Methods: The polymorphisms ABCG5 C1950G (Gln604Glu) and ABCG8 C1895T (Ala640Val) were determined by polymerase chain reaction and restriction analysis in 1227 healthy school children, aged 6 to 8 years. Results: No significant differences were found in blood lipid level…

Malemedicine.medical_specialtyApolipoprotein BLipoproteinsBlood lipidsABCG8Cholesterol Dietarychemistry.chemical_compoundGene FrequencyPolymorphism (computer science)Internal medicineSurveys and QuestionnairesGenotypemedicineHumansATP Binding Cassette Transporter Subfamily G Member 5ChildGenetics (clinical)GeneticsPolymorphism GeneticbiologyBase SequenceCholesterolATP Binding Cassette Transporter Subfamily G Member 8DNADietary FatsLipidsEndocrinologychemistryABCG5biology.proteinIntestinal cholesterol absorptionlipids (amino acids peptides and proteins)ATP-Binding Cassette TransportersFemaleGenetics in medicine : official journal of the American College of Medical Genetics
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