Background: The allelic variation of the apolipoprotein E (apoE) gene affects serum lipid concentrations. This study investigates the correlation of apoE polymorphisms and serum cholesterol and triglyceride concentrations in Chinese subjects.
Methods: DNA from a random sample of 136 unrelated individuals was used for polymerase chain reaction (PCR) amplification of the three apoE alleles. The amplified products were analyzed by Hha1 restriction fragment length polymorphism (RFLP) and single-strand conformation polymorphism (SSCP).
Results: Identical genotypes were obtained by both methods in all individuals analyzed. The three apoE alleles examined were in Hardy-Weinberg equilibrium (p = 0.417). The allele frequencies in individuals with cholesterol and triglyceride values of below 200 mg/dl were 8.6% for epsilon 2, 82.8% for epsilon 3 and 8.6% for epsilon 4. When allele frequency between individuals with cholesterol values of below and above 200 mg/dl was compared, there appeared little difference in the epsilon 2 and epsilon 4 alleles between the two groups (p = 0.823). Conversely, a statistically significant difference in the epsilon 2 allele was observed (p = 0.048) between individuals with triglyceride values of below and above 200 mg/dl.
Conclusions: The results demonstrate that neither the epsilon 2 nor epsilon 4 alleles affect cholesterol values in Chinese subjects, whereas the epsilon 2 allele exerts an influence on serum triglyceride concentrations in Chinese.