ATP结合盒转运子A1基因R219K变异对血脂的影响  

Relationship between ATP-binding cassette transporter 1 R219K genetic variation and blood lipids

作　　者：赵水平[1] 肖志杰[1] 李全忠[1] 聂赛[1] 谭利民[2] 蒋波[2] 吴军[2] 

机构地区：[1]中南大学湘雅二医院心内科,长沙410011 [2]中南大学湘雅二医院神经内科,长沙410011

出　　处：《中华医学杂志》2004年第17期1421-1425,共5页National Medical Journal of China

摘　　要：目的　探讨ATP结合盒转运子A1基因 (ABCA1)R2 19K变异是否影响血脂水平。方法　 10 4 3例受试者 ,其中 6 92例脑卒中患者及 35 1名正常对照组人群。采用聚合酶链式反应 限制性片段长度多态性方法测定ABCA1基因多态性。结果　在ABCA1的RR、RK和KK 3种基因型中 ,高密度脂蛋白胆固醇 (HDL C)水平依次呈上升趋势 ,RR型 (1 3mmol/L± 0 4mmol/L)与KK型(1 4mmol/L± 0 4mmol/L)之间差异有显著意义 (P <0 0 5 ) ;甘油三酯水平依次呈下降趋势 ,相互之间差异无显著意义 ;这种效应以男性人群为主。非携带者 (RR型 )的HDL C水平与年龄呈正相关 ,携带者 (RK +KK型 )的甘油三酯水平与年龄呈负相关 ,在 70岁以前年龄段 ,携带者HDL C水平高于非携带者。结论　ABCA1R2 19K变异可影响血脂水平 ,携带者 (RK +KK型 )产生有益的临床血脂谱 ,以男性人群为主 ,这种作用在≤ 70岁人群尤其明显。Objective To investigate whether ATP-binding cassette transporter 1 (ABCA1)R219K genetic variation is correlated with blood lipids. Method Specimens of peripheral blood were collected from 692 patients with cerebral apoplexy, aged 62±aged 12, and 352 sex- and age-matched persons without cardio-cerebro-vascular disease. Polymerase chain reaction-restricted fragments length polymorphism(PCR-RFLP) was used to determine the ABCA1 genotype: RR type (177 bp), RK type (177 bp, 107 bp, and 70 bp); and KK type (107 bp and 70 bp). The RR and KK type products were sequenced. Results The level of HDL-C showed an upward trend in the sequence of RR, RK, and KK genotypes with a significant difference between RR genotype (1.3 mmol/L±0.4 mmol/L) and KK genotype (1.4 mmol/L± 0.4 mmol/L), especially in the males. The levels of TG tended downward in the sequence of RR, RK, and KK genotypes, however, without a significant difference between any 2 genotypes.Linear regression analysis showed that the HDL-C level was positively correlated with age in the noncarriers of ABCA1R219K genetic variation (RR genotype),and the TC level was negatively correlated with age in the carriers (RK+KK genotype).In the cohort aged ≤70 the HDL-C level was higher in carriers than in noncarriers. Conclusion ABCA1R219K genetic variation results in a beneficial profile of blood lipids, more evident in males. RK+KK genotype is more pronounced in the individuals aged ≤70.

关 键 词：盒转运子 A1基因 R219K变异 血脂 ATP 高脂血症 多态性 单核苷酸 

分 类 号：R346[医药卫生—基础医学]