Haplotype analyses of the APOA5 gene in patients with familial combined hyperlipidemia

Autor: Wu-Wei Zeng, Geesje M. Dallinga-Thie, Aaron Isaacs, Anton F. H. Stalenhoef, Cornelia M. van Duijn, Gerly M. van der Vleuten, Ewoud ter Avest, Philippa J. Talmud, Jacqueline de Graaf
Přispěvatelé: Faculteit Medische Wetenschappen/UMCG, Epidemiology, Internal Medicine, Vascular Medicine, Experimental Vascular Medicine
Jazyk: angličtina
Rok vydání: 2007
Předmět:
Lipoproteins
LDL/blood

Male
Apolipoprotein B
Triglyceride level
Intima-media thickness
Hyperlipidemia
Familial Combined

Cardiovascular Diseases/blood
Vascular medicine and diabetes [UMCN 2.2]
Hyperlipidemia
Familial Combined/blood

chemistry.chemical_compound
Polymorphism (computer science)
Hyperlipidemia
Haplotype
Netherlands
Ultrasonography
Genetics
Cholesterol
HDL/blood

Cardiovascular diseases [NCEBP 14]
biology
medicine.diagnostic_test
Homozygote
Remnant-like particle
Middle Aged
LDL/blood
Lipoproteins
LDL

APOA5 gene
Triglycerides/blood
Cholesterol
Carotid Arteries
Cardiovascular Diseases
HDL/blood
Population study
Molecular Medicine
Female
lipids (amino acids
peptides
and proteins)

Adult
medicine.medical_specialty
Health aging / healthy living [IGMD 5]
Familial combined hyperlipidemia
Lipoproteins
Risk Assessment
Genetic
Apolipoproteins A/genetics
Internal medicine
medicine
Humans
Familial Combined/blood
Genetic Predisposition to Disease
Polymorphism
Allele
Carotid Arteries/diagnostic imaging
Molecular Biology
Apolipoproteins A
Triglycerides
Polymorphism
Genetic

Cholesterol
HDL

medicine.disease
Endocrinology
chemistry
Haplotypes
Apolipoprotein A-V
biology.protein
Lipid profile
Zdroj: Biochimica et biophysica acta, 1772(1), 81-88
Biochimica et Biophysica Acta-Molecular Basis of Disease, 1772(1), 81-88. Elsevier
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE, 1772(1), 81-88. Elsevier
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1772, 1, pp. 81-8
Biochimica et Biophysica Acta. Molecular Basis of Disease, 1772, 81-8
ISSN: 0925-4439
0006-3002
DOI: 10.1016/j.bbadis.2006.10.012
Popis: Contains fulltext : 53623.pdf (Publisher’s version ) (Closed access) BACKGROUND: Familial combined hyperlipidemia (FCH) is the most common genetic lipid disorder with an undefined genetic etiology. Apolipoprotein A5 gene (APOA5) variants were previously shown to contribute to FCH. The aim of the present study was to evaluate the association of APOA5 variants with FCH and its related phenotypes in Dutch FCH patients. Furthermore, the effects of variants in the APOA5 gene on carotid intima-media thickness (IMT) and cardiovascular disease (CVD) were examined. MATERIALS AND METHODS: The study population consisted of 36 Dutch families, including 157 FCH patients. Two polymorphisms in the APOA5 gene (-1131T>C and S19W) were genotyped. RESULTS: Haplotype analysis of APOA5 showed an association with FCH (p=0.029), total cholesterol (p=0.031), triglycerides (p
Databáze: OpenAIRE