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

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 c holesterol (LDL-C) in Chinese populations. Environmental factors likely con tribute, in part, to these findings. However, genetic factors contributing to lipoprotein metabolism may also play a role in determining the lipid/lip oprotein phenotype observed in Chinese populations. Lipoprotein lipase (LPL ) mutations have been associated with altered HDL-C concentrations in Cauca sians but have not yet been studied in a large population of Chinese descen t. Methods: 1577 Chinese Canadians of Cantonese descent were recruited for a cardiovascular risk factor study. The frequency and effect of three LPL g ene polymorphisms [Asp9Asn (D9N, n = 374), Asn291Ser (N291S, n = 321) and S er447-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 w ere observed in both male and female Chinese Canadian subjects compared to other population samples. The D9N and N291S LPL polymorphisms were identifi ed in 1/374 (0.3%) and 5/321 (1.6%) subjects, respectively. Carrier frequen cy of the S447X mutation was (102/403) 25.3%. This S447X polymorphism was o bserved with higher frequency in males with HDL-C levels in the highest ter tile compared with those in the lowest HDL-C tertile (carrier frequencies 3 7.3 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 g ene may mitigate the adverse effects of western lifestyle on plasma lipopro teins in this cohort of Cantonese Canadians. (C) 2001 Elsevier Science Irel and Ltd. All rights reserved.