Background: ApoL-I is a newly found component of HDL, and has a potential role in the lipid metabolism. This study was mainly to examine the possible association of the ApoL-I gene polymorphism with endogenous hypertriglyceridemia (HTG) in Chinese population.
Methods: Three hundred and thirty five Han Chinese (102 HTG and 233 healthy control subjects) in Chengdu area were studied using PCR-RFLP analysis.
Results: The Lys and Glu allele frequencies of apoL-I gene at Lys166Glu site in HTG and normal control groups were 0.857, 0.143 and 0.801, 0.199, respectively; The Ile and Met allele frequencies of the gene at Ile244Met site in HTG and the control groups were 0.868, 0.132 and 0.812, 0.188 respectively. The 166Glu and 244Met allele frequencies of the 2 polymorphisms in HTG subjects were not different from those in the normal controls, respectively (P>0.05). In HTG group, subjects with genotype Lys/lys of Lys166Glu site had a higher serum mean concentration of TG as compared to those of Glu allele carriers (3.64+/-1.55 mmol/l vs 2.86+/-0.51 mmol/l, P<0.05). Subjects with genotype Ile/Ile of Ile244Met site had a higher serum mean concentration of TG as compared to those of Met allele carriers (3.59+/-1.56 mmol/l vs 2.94+/-0.88 mmol/l, P<0.05).
Conclusions: The Lys166Glu and Ile244Met polymorphisms in apoL-I gene are associated with TG levels in subjects with endogenous hypertriglyceridemia in Chinese. However, these polymorphisms were not associated with the risk of HTG in the population.