title: Frequency and allelic association of common variants in the lipoprotein lipase gene in different ethnic groups: the Wandsworth Heart and Stroke Study.
abstract: The lower serum triglyceride (Tg), higher high density cholesterol (HDL-C) levels and low coronary heart disease (CHD) mortality in black populations, contrast with that in whites. By comparison, South Asian populations display a higher mortality from CHD associated with increased Tg and low HDL-C levels. Lipoprotein lipase (LPL) plays a major role in Tg metabolism. To determine if variation in the LPL gene contributes to the differences in lipid levels, we studied the frequencies and allelic associations of five common variants in the lipoprotein lipase (LPL) gene (-93T/G, D9N, N291S, S447X, and the HinddIII RFLP in intron 8) with serum Tg and HDL-cholesterol concentrations in population samples of middle-aged men and women of whites, South Asians, and blacks of African origin co-resident in South London. Significantly higher frequencies of the H(-) (P < 0.00001), N9 (P < 0.001), and -93G (P < 10(-10)) alleles were seen in blacks compared to the other two groups. Allelic association between -93G and N9, and H(+) and X447 was strong in all three groups. However, no association was observed between serum Tg and HDL-cholesterol concentrations and these variants in the three ethnic groups. A single common polymorphism in the LPL gene is unlikely to account for the differences in fasting serum Tg in populations of different ethnic background. The importance of the differences in frequencies and the mechanism(s) whereby these may contribute towards a beneficial LPL genotype in black populations remain to be determined.
authors.affiliation: Division of Cardiovascular Genetics, Department of Medicine, University College London, London, United Kingdom.
authors.forename: S
authors.initials: S
authors.lastname: Hall
authors.forename: P J
authors.initials: PJ
authors.lastname: Talmud
authors.forename: D G
authors.initials: DG
authors.lastname: Cook
authors.forename: P D
authors.initials: PD
authors.lastname: Wicks
authors.forename: M J
authors.initials: MJ
authors.lastname: Rothwell
authors.forename: P
authors.initials: P
authors.lastname: Strazzullo
authors.forename: G A
authors.initials: GA
authors.lastname: Sagnella
authors.forename: F P
authors.initials: FP
authors.lastname: Cappuccio
mesh_terms: D000328:Adult; D000483:Alleles; D044466:Asian People / Q000235:genetics; D044383:Black People / Q000235:genetics; D015247:Deoxyribonuclease HindIII / Q000235:genetics; D005260:Female; D005787:Gene Frequency; D014644:Genetic Variation / Q000235:genetics*; D006331:Heart Diseases / Q000201:enzymology / Q000208:ethnology* / Q000235:genetics* / Q000401:mortality; D006801:Humans; D008071:Lipoprotein Lipase / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D012150:Polymorphism, Restriction Fragment Length; D012694:Serine / Q000235:genetics; D020521:Stroke / Q000201:enzymology / Q000208:ethnology* / Q000235:genetics* / Q000401:mortality; D014280:Triglycerides / Q000097:blood; D044465:White People / Q000235:genetics
chemical_list: D014280:Triglycerides; D012694:Serine; D008071:Lipoprotein Lipase; D015247:Deoxyribonuclease HindIII