Human apolipoprotein E: Correlation of polymorphisms and serum lipid concentrations in Chinese

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 HhaI 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 ε 2, 82.8% for ε 3 and 8.6% for ε 4. When allele frequency between individuals with cholesterol values of below and above 200 mg/dl was compared, there appeared little difference in the ε 2 and ε 4 alleles between the two groups (p = 0.823). Conversely, a statistically significant difference in the ε 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 ε 2 nor ε 4 alleles affect cholesterol values in Chinese subjects, whereas the ε 2 allele exerts an influence on serum triglyceride concentrations in Chinese.