Identification of a common variant in the lipoprotein lipase gene in a large Utah kindred ascertained for coronary heart disease: The - 93G/D9N variant predisposes to low HDL-C/high triglycerides

Clinical Genetics

Volumn 59, Issue 2, 2001, Pages 88-98

  Samuels, M E ^a   Forbey, K C ^a   Reid, J E ^a   Abkevich, V ^a   Bulka, K ^a   Wardell, B R ^a   Bowen, B R ^c   Hopkins, P N ^b   Hunt, S C ^b   Ballinger, D G ^a   Skolnick, M H ^a   Wagner, S ^a,d  

^a UNIVERSITY OF UTAH   (United States)

^b UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^c NOVARTIS INSTITUTES FOR BIOMEDICAL RESEARCH   (United States)

^d Myriad Genetic Laboratories   (United States)

Author keywords

Genetics; Linkage; Lipids; Lipoprotein lipase; MOD score; Mutation

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; INSULIN; LIPID; LIPOPROTEIN; LIPOPROTEIN LIPASE; TRIACYLGLYCEROL;

ADULT; ARTICLE; CONTROLLED STUDY; DYSLIPIDEMIA; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC LINKAGE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOME; HUMAN; HUMAN TISSUE; HYPERINSULINEMIA; HYPERTRIGLYCERIDEMIA; ISCHEMIC HEART DISEASE; LIPID BLOOD LEVEL; MAJOR CLINICAL STUDY; MALE; MODEL; PARAMETER; PENETRANCE; PHENOTYPE; POPULATION; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; RELATIVE; SCORING SYSTEM; SCREENING; UNITED STATES;

AGED; CHOLESTEROL, HDL; CORONARY DISEASE; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; HYPERLIPIDEMIAS; LINKAGE (GENETICS); LIPOPROTEIN LIPASE; MALE; MIDDLE AGED; MUTATION; PEDIGREE; TRIGLYCERIDES; UNITED STATES; UTAH; VARIATION (GENETICS);

EID: 17744387907     PISSN: 00099163     EISSN: None     Source Type: Journal    
DOI: 10.1034/j.1399-0004.2001.590205.x     Document Type: Article

References (38)

1. Familial lipoprotein disorders in patients with premature coronary artery disease
2. A genome scan for familial combined hyperlipidemia reveals evidence of linkage with a locus on chromosome 11
3. Evidence for a gene influencing the TG/HDL-C ratio on chromosome 7q32.3-qter: A genome-wide scan in the framingham study
4. A major susceptibility locus influencing plasma triglyceride concentrations is located on chromosome 15q in Mexican Americans
5. Evidence of linkage of familial hypoalphalipoproteinemia to a novel locus on chromosome 11q23
6. Linkage of familial combined hyperlipidaemia to chromosome 1q21-q23
7. Genomewide scan for familial combined hyperlipidemia genes in Finnish families, suggesting multiple susceptibility loci influencing triglyceride, cholesterol, and apolipoprotein B levels
8. Human pedigree-based quantitative-trait-locus mapping: Localization of two genes influencing HDL-cholesterol metabolism
9. Common variation in the lipoprotein lipase gene: Effects on plasma lipids and risk of atherosclerosis
10. Missense mutation (Gly-Glu188) of human lipoprotein lipase imparting functional deficiency
11. Phenotypic expression of heterozygous lipoprotein lipase deficiency in the extended pedigree of a proband homozygous for a missense mutation
12. Genealogy and regional distribution of lipoprotein lipase deficiency in French-Canadians of Quebec
13. Lipoprotein lipase mutations, plasma lipids and lipoproteins, and risk of ischemic heart disease. A meta-analysis
14. Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia
15. Lipoprotein lipase variants D9N and N291S are associated with increased plasma triglyceride and lower high-density lipoprotein cholesterol concentrations: Studies in the fasting and post-prandial states: The Research Studies
16. A comparison of positive family history definitions for defining risk of future disease
17. A rapid micro-scale procedure for determination of the total lipid profile
18. Genetic localization to chromosome 1p32 of the third locus for familial hypercholesterolemia in a Utah kindred
19. PedCheck: A program for identification of genotype incompatibilities in linkage analysis
20. Isolation and analysis of dinucleotide repeat polymorphisms from a flow-sorted chromosome 8 library
21. Tetranucleotide repeat polymorphism in the LPL gene
22. Modulation of non-templated nucleotide addition by Taq DNA polymerase: Primer modifications that facilitate genotyping
23. Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia
24. Multilocus linkage analysis by blocked Gibbs sampling
25. Linkage analysis in the presence of errors I: Complex-valued recombination fractions and complex phenotypes
26. A mutation in the promoter of the lipoprotein lipase (LPL) gene in a patient with familial combined hyperlipidemia and low LPL activity
27. A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries
28. Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene
29. The Asn9 variant of lipoprotein lipase is associated with the -93G promoter mutation and an increased risk of coronary artery disease
30. A common mutation in the lipoprotein lipase gene promoter, - 93T/ G, is associated with lower plasma triglyceride levels and increased promoter activity in vitro
31. Mutations in the lipoprotein lipase gene associated with ischemic heart disease in men. The Copenhagen city heart study
32. Gender-related association between the - 93T → G/D9N haplotype of the lipoprotein lipase gene and elevated lipid levels in familial combined hyperlipidemia
33. Two common mutations (D9N, N291S) in lipoprotein lipase: A cumulative analysis of their influence on plasma lipids and lipoproteins in men and women
34. Alterations in plasma lipoproteins and apolipoproteins before the age of 40 in heterozygotes for lipoprotein lipase deficiency
35. Higher triglycerides, lower high-density lipoprotein cholesterol, and higher systolic blood pressure in lipoprotein lipase-deficient heterozygotes. A preliminary report
36. Genetic dissection of complex traits
37. Genetic studies of complex diseases: Let the reader beware