Analysis of ATP binding cassette A1 gene R219K polymorphism in patients with endogenous hypertriglyceridemia in Chinese population / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the variations of ATP binding cassette A1 (ABCA1) gene and its relation to endogenous hypertriglyceridemia (HTG) in Chinese population.</p><p><b>METHODS</b>A total of three hundred and nine subjects (one hundred and nine endogenous hypertriglyceridemics and 200 healthy controls) from a population of Chinese Han nationality in Chengdu area were studied using restriction fragment length polymorphism (RFLP) amplified by polymerase chain reaction (PCR).</p><p><b>RESULTS</b>The frequency of K allele at R219K site 0.472 and 0.436 in normal and HTG group, respectively. No significant difference between normal control and HTG group was found in both allele and genotype frequencies. In both normal and HTG groups, subjects with genotype KK had a higher serum mean concentration of high density lipoprotein-cholesterol (HDL-C) when compared with those with genotype RR, respectively (1.48+/-0.45 mmol/L vs 1.27+/-0.29 mmol/L, P<0.05; 1.07+/-0.30 mmol/L vs 0.87+/-0.19 mmol/L, P<0.05). In normal group, subjects with genotype RK had a lower triglyceride (TG) level compared with those with genotype RR (1.22+/-0.37 mmol/L vs 1.41+/-0.84 mmol/L, P<0.05). In addition, the subjects carrying K allele in HTG group had a decreased total cholesterol (TC)/HDL-C ratio compared with those with genotype RR (KK vs RK vs RR 4.82+/-1.28 vs 5.42+/-1.62 vs 6.33+/-1.70, P<0.05).</p><p><b>CONCLUSION</b>These results suggest that R219K polymorphism in ABCA1 gene is not only associated with serum HDL-C and TG levels in healthy Chinese subjects in Chengdu area, but also with HDL-C level and TC/HDL-C ratio in subjects with endogenous HTG.</p>