Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population

Atherosclerosis. 2001 Jun;156(2):401-7. doi: 10.1016/s0021-9150(00)00670-5.

Abstract

Background: favorable lipid profiles including low total serum cholesterol (TC), TC/HDL-cholesterol (HDL-C) ratio and elevated HDL-C levels have been previously reported in Chinese living in China. More recent data, however, suggests a changing trend toward decreased HDL-C and increased TC and LDL cholesterol (LDL-C) in Chinese populations. Environmental factors likely contribute, in part, to these findings. However, genetic factors contributing to lipoprotein metabolism may also play a role in determining the lipid/lipoprotein phenotype observed in Chinese populations. Lipoprotein lipase (LPL) mutations have been associated with altered HDL-C concentrations in Caucasians but have not yet been studied in a large population of Chinese descent.

Methods: 1577 Chinese Canadians of Cantonese descent were recruited for a cardiovascular risk factor study. The frequency and effect of three LPL gene polymorphisms [Asp9Asn (D9N, n=374), Asn291Ser (N291S, n=321) and Ser447-Ter (S447X, n=403)] on serum HDL-C concentrations was assessed. All the three polymorphisms have been shown to alter HDL-C levels in different Caucasian populations.

Results: lower TC, LDL-C, and TG and higher HDL-C were observed in both male and female Chinese Canadian subjects compared to other population samples. The D9N and N291S LPL polymorphisms were identified in 1/374 (0.3%) and 5/321 (1.6%) subjects, respectively. Carrier frequency of the S447X mutation was (102/403) 25.3%. This S447X polymorphism was observed with higher frequency in males with HDL-C levels in the highest tertile compared with those in the lowest HDL-C tertile (carrier frequencies 37.3 vs. 19.4%) (P=0.046).

Conclusion: in this cohort of Chinese Canadians, the serum lipid profiles were more favorable than what has been reported for Caucasian Canadians. A favorable spectrum of polymorphisms in the LPL gene may mitigate the adverse effects of western lifestyle on plasma lipoproteins in this cohort of Cantonese Canadians.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Age Distribution
  • Aged
  • Asian People / genetics*
  • Canada / epidemiology
  • Cardiovascular Diseases / blood
  • Cardiovascular Diseases / epidemiology*
  • Cardiovascular Diseases / genetics*
  • China / ethnology
  • Cholesterol, HDL / metabolism*
  • Female
  • Humans
  • Incidence
  • Lipoprotein Lipase / analysis*
  • Lipoprotein Lipase / genetics*
  • Male
  • Middle Aged
  • Multivariate Analysis
  • Mutation*
  • Probability
  • Risk Assessment
  • Risk Factors
  • Sex Distribution

Substances

  • Cholesterol, HDL
  • Lipoprotein Lipase