title: Common mutations in the lipoprotein lipase gene (LPL): effects on HDL-cholesterol levels in a Chinese Canadian population.
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).
  
  
  CONCLUSIONS
  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.
authors.affiliation: Atherosclerosis Specialty Laboratory, Department of Pathology and Laboratory Medicine, University of British Columbia St. Paul's Hospital, 1081 Burrard Street, Suite 180-20, V6Z 1Y6, Vancouver, BC, Canada.
authors.forename: S H
authors.initials: SH
authors.lastname: McGladdery
authors.forename: S N
authors.initials: SN
authors.lastname: Pimstone
authors.forename: S M
authors.initials: SM
authors.lastname: Clee
authors.forename: J F
authors.initials: JF
authors.lastname: Bowden
authors.forename: M R
authors.initials: MR
authors.lastname: Hayden
authors.forename: J J
authors.initials: JJ
authors.lastname: Frohlich
mesh_terms: D000328:Adult; D017677:Age Distribution; D000368:Aged; D044466:Asian People / Q000235:genetics*; D002170:Canada / Q000453:epidemiology; D002318:Cardiovascular Diseases / Q000097:blood / Q000453:epidemiology* / Q000235:genetics*; D002681:China / Q000208:ethnology; D008076:Cholesterol, HDL / Q000378:metabolism*; D005260:Female; D006801:Humans; D015994:Incidence; D008071:Lipoprotein Lipase / Q000032:analysis* / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D015999:Multivariate Analysis; D009154:Mutation; D011336:Probability; D018570:Risk Assessment; D012307:Risk Factors; D017678:Sex Distribution
chemical_list: D008076:Cholesterol, HDL; D008071:Lipoprotein Lipase