目的探讨三磷酸腺苷结合盒转运子(ABCA1)的R219K基因多态性与飞行员血脂的关系。方法199例男性飞行员分为91例血脂异常组及108例血脂正常组(对照组)，检测两组血脂及其他生化指标。PCR-RFLP方法测定两组ABCA1R219K基因多态性。结果高血脂组与对照组ABCA1基因R219K基因型(RR、RK、KK)及等位基因频率(R、K)分别为28.6%、47.2%、24.2%、52.2%、47.8%，以及33.3%、53.7%、13.0%、60.2%、39.8%。两组基因型及等位基因频率差异无统计学意义(χ²=4.197，P=0.123;χ²=2.564，P=0.109)。高血脂组不同基因型的TC、TG、LDL-C差异均无统计学意义(分别为P=0.631，P=0.449，P=0.834)。而高血脂组携带KK基因型者HDL-C明显高于携带RR基因型者[(1.44±0.11)mmol/Lvs(1.10±0.23)mmol/L，P<0.05]。结论检测ABCA1R219K基因型可为飞行员心、脑血管疾病的预防及个体化治疗提供新思路、新方法。

Objective To investigate the relationship between ATP binding cassette transporter A1 ( ABCA1) R219K gene polymorphism and blood lipid abnormality in pilots. Methods 199 male pilots were selected,including 91 hyperlipidemic patients and 108 healthy controls.ABCA1 R219K gene polymorphisms were determined by polymerase chain reaction restricted fragments length polymorphism (PCR-RFLP), and blood lipids and other biochemical markers were also determined. Results The frequencies of the RR, RK, KK , allele R , allele K of ABCA1 R219K in hyperlipidemic group and control group were 28.6%, 47.2%, 24.2%, 52.2%, 47.8% and 33.3%, 53.7%, 13.0%, 60.2%, 39.8%, respectively. There were no significant differences in the genotype and allele frequencies of the R219K polymorphism between hyperlipidemic group and control group(χ²=4.197, P=0.123 and χ²=2.564, P=0.109). No significant differences in levels of TC, TG, LDL were observed among different genotypes of ABCA1 R219K in hyperlipidemic group (P=0.631,P=0.449,P=0.834, respectively). However, pilots with the KK genotype had significantly higher levels of high density lipoprotein-cholesterol (HDL-C) than those with the RR genotype in hyperlipidemic group(1.44±0.11 mmol/L vs 1.10±0.23 mmol/L,P<0.05). Conclusions There are no significant differences in the genotype and allele frequencies of the R219K polymorphism between hyperlipidemic pilots and control pilots. The KK genotype of ABCA1 R219K polymorphism may be associated with significantly high HDL-C level in pilots.