The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease

Citation
Sm. Clee et al., The LPL S447X cSNP is associated with decreased blood pressure and plasma triglycerides, and reduced risk of coronary artery disease, CLIN GENET, 60(4), 2001, pp. 293-300
Citations number
49
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
CLINICAL GENETICS
ISSN journal
00099163 → ACNP
Volume
60
Issue
4
Year of publication
2001
Pages
293 - 300
Database
ISI
SICI code
0009-9163(200110)60:4<293:TLSCIA>2.0.ZU;2-L
Abstract
Linkage of the lipoprotein lipase (LPL) gene to blood pressure levels has b een reported. The LPL S447X single nucleotide polymorphism (cSNP) has been associated with decreased triglycerides (TG), increased high density lipopr otein cholesterol, and a decreased risk of coronary artery disease (CAD), w hich may occur independently of its beneficial lipid changes. To investigat e the relationship between LPL S447X cSNP and these parameters, we studied a cohort of individuals with familial hypercholesterolemia in whom blood pr essures and information regarding the use of blood pressure lowering medica tions were available. Carriers of the S447X variant had decreased TG (1.21 +/- 0.47 vs. 1.52 +/- 0.67, p < 0.001) and a trend towards decreased vascul ar disease (12.7 vs. 19.5%) compared to non-carriers. More interestingly, h owever, carriers of this cSNP had decreased diastolic blood pressure compar ed to non-carriers (78 +/- 10 vs. 82 +/- 11, p = 0.002), evident in both me n and women, youths and adults, with similar trends for systolic blood pres sure. Furthermore, the decrease in blood pressure appeared independent of t he decrease in TG (p = 0.02), suggesting that the LPL protein may have a di rect influence on the vascular wall. This suggests an additional mechanism whereby this variant may have protective effects, independent of changes in plasma lipid levels.