Hepatic Lipase Gene -514 C/T Polymorphism and Premature Coronary Heart Disease
| Autor: | Juying Ji, Valerie Burke, Roger R. Taylor, Carly E. Herbison, Cyril D. S. Mamotte, Frank M. van Bockxmeer |
|---|---|
| Rok vydání: | 2002 |
| Předmět: |
Adult
Male medicine.medical_specialty Time Factors Genotype Epidemiology Coronary Disease Body Mass Index Gene Frequency Internal medicine Humans Medicine Allele Gene Allele frequency Triglycerides Polymorphism Genetic business.industry Cholesterol HDL Reverse cholesterol transport Age Factors Australia Promoter Heterozygote advantage Cholesterol LDL Lipase Middle Aged Endocrinology Liver Female Hepatic lipase Cardiology and Cardiovascular Medicine business |
| Zdroj: | European Journal of Cardiovascular Prevention & Rehabilitation. 9:105-113 |
| ISSN: | 1741-8275 1741-8267 |
| DOI: | 10.1177/174182670200900206 |
| Popis: | A common polymorphism in the hepatic lipase (HL) gene promoter, -514C/T, affecting enzyme activity, has been associated with alterations in plasma lipoprotein levels. However a relationship with coronary heart disease (CHD) is less well documented.We studied HL -514 C/T in 562 Caucasian CHD patients aged under 50 years and in 642 Caucasian community recruited subjects without historical evidence of CHD.Male CHD subjects (n = 490) had a 41% carrier rate for the C to T substitution, compared with 33% in corresponding controls (n = 330), [OR = 1.42 (95% CI:1.06-1.90), P0.02], T allele frequencies being 0.231 and 0.177 respectively [OR = 1.39 (1.08-1.78), P0.01]. In male CHD subjects, the T allele was associated with higher HDL-cholesterol (HDL-C) (CC: 0.95 +/- 0.24 (SD); CT: 1.04 +/- 0.41; TT: 1.01 +/- 0.20 mmol/l, P = 0.02, ANOVA) but the trend was not significant in females. In male CHD patients the T allele was more frequently encountered in those with high (4.5 mmol/l) than in those with low triglycerides [68% vs. 39%, OR = 3.13 (1.54-6.67), P = 0.001]. In community control subjects, the T allele was associated with a trend to higher HDL-C levels, the significance varying between subgroups while, in males, serum total and LDL-cholesterol were significantly lower in T homozygotes than in the other two genotypes (LDL-C: 2.73 +/- 0.63 vs. 3.56 +/- 0.95 mmol/l; P = 0.01). During the course of this study, a previously unreported promoter region polymorphism was found exclusively on -514C chromosomes (-592A/G, A allele frequency 0.108, 95% CI 0.09 - 0.126). It can lead to mistyping of C as T alleles in C/T heterozygotes, resulting in overestimation of -514 T homozygotes.The T allele of the hepatic lipase -514 C/T polymorphism is associated with changes in plasma lipids. The superficially paradoxical predisposition to CHD in males is attributable to impairment of TG rich lipoprotein metabolism and reverse cholesterol transport. |
| Databáze: | OpenAIRE |
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