Document Detail

The apolipoprotein B R3500Q gene mutation in Spanish subjects with a clinical diagnosis of familial hypercholesterolemia.
MedLine Citation:
PMID:  12208478     Owner:  NLM     Status:  MEDLINE    
Familial hypercholesterolemia (FH) and familial defective apolipoprotein B-100 (FDB) are autosomal codominant diseases characterized by elevated LDL cholesterol levels and premature coronary artery disease. Mutations of the LDL-receptor and apolipoprotein B genes, which affect the binding domains of their protein products, are the causal defects. Securing the diagnosis of these conditions by molecular assays is important because it mandates early intervention for coronary risk reduction. DNA screening for apolipoprotein B R3500Q gene mutation was performed in 913 unrelated Spanish individuals with a clinical diagnosis of FH using a modified polymerase chain reaction protocol and restriction enzyme genotyping. Thirteen FDB heterozygotes were identified (frequency of 1.4% in subjects with a clinical diagnosis of FH). The prevalence of hypercholesterolemic subjects with FDB in the general Spanish population was estimated to be as low as 2.8 x 10(-5) (95% CI, -3.1 x 10(-4) to 3.7 x 10(-4)). The ancestors of 11 out of 13 FDB carriers were from Galicia, a region of Celtic ancestry in Northwestern Spain. As the series included 100 unrelated subjects of Galician ancestry, FDB appears to be an important genetic cause of hypercholesterolemia in this region. All the R3500Q mutations were found on the same allele, assigned to haplotype XbaI-/MspI+/EcoRI-/3HVR48, suggesting that the mutant alleles are identical by descent in people from Spain, as observed in other Caucasian populations. In conclusion, the R3500Q mutation of the apolipoprotein B gene, a common cause of FH in central Europe, is infrequent in the general Spanish population, but it is common in Galicia.
Sergio Castillo; Diego Tejedor; Pilar Mozas; Gilberto Reyes; Fernando Civeira; Rodrigo Alonso; Emilio Ros; Miguel Pocoví; Pedro Mata
Related Documents :
15389928 - Increased power for case-control studies of single nucleotide polymorphisms through inc...
23776608 - Snapaer: a practical single nucleotide polymorphism multiplex assay for genotyping of p...
12080388 - Segregation analysis of hdl cholesterol in the nhlbi family heart study and in utah ped...
1362528 - Styi polymorphism in an enhancer region of the second intron of the apolipoprotein b ge...
10911948 - Genetics of survival.
23754948 - Sex-stratified genome-wide association studies including 270,000 individuals show sexua...
Publication Detail:
Type:  Comparative Study; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Atherosclerosis     Volume:  165     ISSN:  0021-9150     ISO Abbreviation:  Atherosclerosis     Publication Date:  2002 Nov 
Date Detail:
Created Date:  2002-09-04     Completed Date:  2002-12-06     Revised Date:  2009-11-19    
Medline Journal Info:
Nlm Unique ID:  0242543     Medline TA:  Atherosclerosis     Country:  Ireland    
Other Details:
Languages:  eng     Pagination:  127-35     Citation Subset:  IM    
Departamento de Bioqui;mica y Biologi;a Molecular y Celular, Facultad de Ciencias, Universidad de Zaragoza, Plaza San Francisco s/n, 51008, Zaragoza, Spain
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Age Distribution
Apolipoproteins B / genetics*
Base Sequence
Chi-Square Distribution
DNA Mutational Analysis
Genetic Testing
Hyperlipoproteinemia Type II / diagnosis*,  epidemiology*,  genetics
Middle Aged
Molecular Sequence Data
Peptide Fragments / genetics*
Polymorphism, Single-Stranded Conformational
Risk Assessment
Sampling Studies
Sex Distribution
Spain / epidemiology
Reg. No./Substance:
0/Apolipoproteins B; 0/Peptide Fragments; 0/apolipoprotein B (3304-3317)
Comment In:
Atherosclerosis. 2003 Jun;168(2):399-400   [PMID:  12801626 ]

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Effect of gender on phenotypic expression of the S447X mutation in LPL: the Copenhagen City Heart St...
Next Document:  The effects of lovastatin and simvastatin on the diurnal periodicity of plasma mevalonate concentrat...