Genetic polymorphism of S447X lipoprotein lipase (LPL) and the susceptibility to hypertension
| Autor: | Samar Habibullah, Amna Salah, Mariam Khan, Yara Al Lahham, Najma Esmail |
|---|---|
| Rok vydání: | 2009 |
| Předmět: |
Adult
Male medicine.medical_specialty Mutation Missense Adipose tissue Blood Pressure Critical Care and Intensive Care Medicine Polymerase Chain Reaction Body Mass Index Internal medicine Genotype medicine Humans Lipoprotein lipase business.industry Middle Aged medicine.disease Phenotype Lipoprotein Lipase Restriction site Endocrinology Case-Control Studies Hypertension Female Restriction fragment length polymorphism business XX Genotype Dyslipidemia |
| Zdroj: | Journal of Critical Care. 24:e11-e14 |
| ISSN: | 0883-9441 |
| Popis: | Introduction Lipoprotein lipase (LPL) is a rate-limiting enzyme responsible for the hydrolysis of triacylglycerol-rich lipoproteins releasing monoglycerides and free fatty acids, which are taken up by skeletal muscles and adipose tissue. S447X polymorphism in exon 9 of LPL gene on chromosome 8 p22 results from replacement of serine amino acid with a stop codon creating a restriction site. It has been hypothesized that the more common SS genotype is associated with a lower LPL activity compared with the infrequent SX/XX genotype. Objectives To investigate the effect of genetic polymorphism of LPL S447X in blood pressure and its atherogenic phenotype. Materials and Methods S447X variant genotype of LPL were determined by polymerase reaction (PCR) restriction fragment length polymorphism assay in 50 hypertensive patients and 50 normotensive as a control group. Anthropometric measurements and serum lipoproteins were also determined in both groups. Results The frequency of (SS) genotype was 78% in hypertensive group compared to 66% in normotensive group. Carrier of (SS) genotype were at higher risk of developing hypertension (OR, 1.8; 95% CI, 0.8-4.4) when compared with carrier of other genotypes. Furthermore, they showed atherogenic phenotype manifested by central obesity and dyslipidemia. Odds ratios were 1.8 and 2.6, respectively. Conclusion It was found that carriers of (SS) genotype were at high risk of developing hypertension. |
| Databáze: | OpenAIRE |
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