Document Detail

Etiologic heterogeneity of hyperapobetalipoproteinemia (hyperapoB). Results from segregation analysis in families with premature coronary artery disease.
MedLine Citation:
PMID:  9409249     Owner:  NLM     Status:  MEDLINE    
Hyperapobetalipoproteinemia (hyperapoB) is a common familial lipoprotein disorder associated with premature coronary artery disease (CAD). HyperapoB is characterized by an increased number of small, dense LDL particles. Patients with hyperapoB may be normotriglyceridemic (normoTG) or hypertriglyceridemic (hyperTG). We tested the hypothesis that a major locus controls the hyperapoB phenotype by using data from 1035 participants in 145 families enriched for premature CAD. Segregation analysis was conducted, and results suggest etiologic heterogeneity in these families. Families (n = 55) with one or more hyperTG hyperapoB individuals strongly supported mendelian recessive inheritance of hyperapoB. Under this mendelian model, individuals with the high-risk genotype had a baseline risk of 0.78, but parental and spouse's hyperapoB phenotypes did influence the probability of displaying hyperapoB. Low-risk genotypes had virtually no risk of displaying hyperapoB. The other subgroup of families (n = 72), in which all hyperapoB individuals were normoTG, did not show any clear pattern of inheritance. Eighteen families did not have any hyperapoB individual. In the 55 families with hyperTG hyperapoB, diabetes was more prevalent in hyperapoB individuals (18.3% of hyperTG hyperapoB individuals, 9.6% of normoTG hyperapoB individuals) than in normal individuals (4.9%). Both hyperTG hyperapoB and normoTG hyperapoB phenotypes were significant predictors for blood pressure in the 55 families, but not in the total population. These associations further suggest a link between hyperapoB and the small, dense LDL syndromes. This study successfully demonstrated mendelian inheritance of the hyperapoB phenotype and also suggested etiologic heterogeneity of hyperapoB.
S H Juo; T H Beaty; P O Kwiterovich
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Publication Detail:
Type:  Journal Article; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Arteriosclerosis, thrombosis, and vascular biology     Volume:  17     ISSN:  1079-5642     ISO Abbreviation:  Arterioscler. Thromb. Vasc. Biol.     Publication Date:  1997 Nov 
Date Detail:
Created Date:  1998-01-22     Completed Date:  1998-01-22     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  9505803     Medline TA:  Arterioscler Thromb Vasc Biol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  2729-36     Citation Subset:  IM    
Department of Epidemiology, Johns Hopkins School of Hygiene and Public Health, Baltimore, Md., USA.
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MeSH Terms
Age of Onset
Apolipoproteins B / blood*,  genetics
Blood Pressure
Body Mass Index
Cohort Studies
Coronary Angiography
Coronary Disease / epidemiology*,  genetics
Diabetes Mellitus / epidemiology
Disease Susceptibility
Genes, Recessive
Genetic Heterogeneity*
Hyperlipoproteinemias / blood,  classification,  epidemiology,  genetics*
Hypertriglyceridemia / epidemiology,  genetics
Lipoproteins, LDL / blood,  chemistry
Middle Aged
Models, Genetic
Particle Size
Risk Factors
Triglycerides / blood
Grant Support
Reg. No./Substance:
0/Apolipoproteins B; 0/Lipoproteins, LDL; 0/Triglycerides

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