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
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.