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ATP结合盒转运蛋白A1 R219K和胆固醇酯转运蛋白TaqIB基因型对超重/肥胖及非肥胖中国受试者高密度脂蛋白胆固醇水平的差异影响。

Differential effect of ATP binding cassette transporter A1 R219K and cholesteryl ester transfer protein TaqIB genotypes on HDL-C levels in overweight/obese and non-obese Chinese subjects.

作者信息

Huang Yi, Wu Yin, Liu Rui, Fan Ping, Zhang Juan, Wang Fang, Luo Xuefeng, Liu Yu, Liu Bingwen, Bai Huai

机构信息

Laboratory of Genetic Disease and Perinatal Medicine, West China Second University Hospital, Sichuan University, Chengdu, Sichuan, P.R. China.

出版信息

Acta Cardiol. 2011 Apr;66(2):231-7. doi: 10.1080/ac.66.2.2071256.

Abstract

OBJECTIVES

ATP-binding cassette transporter A1 (ABCA1) and cholesteryl ester transfer protein (CETP) are involved in the HDL metabolism and play a key role in reverse cholesterol transport. The study aim was mainly to examine the possible association of the ABCA1 and CETP polymorphisms with overweight/obesity in a South-West Chinese population.

METHODS AND RESULTS

Three hundred and thirty-eight Han Chinese (206 overweight/obese and 132 normal control subjects) in Chengdu area were studied using the PCR-RFLP analysis. The genotype and allele frequencies of the ABCA1 R219K, CETP Taq IB and -629C > A polymorphisms in cases of overweight/obesity showed no significant statistical difference compared to those of the control subjects. However, on analysis of the HDL-C levels, cases showed statistically higher levels among those carrying the ABCA 1 KK genotype compared to RR genotype carriers, and controls having the CETP B2B2 genotype had a marginally significantly higher serum HDL-C concentration than those of the B1B1 genotype. In addition, the combined genotype effect of the ABCA1 R219K and the CETP Taq IB polymorphisms on HDL-C levels was evident in the control subjects: the carriers of the KK/B2B2 genotype showed the highest levels of HDL-C (2.23 +/- 0.91 mmol/L), whereas those of the RR/B1B1 genotype showed the lowest (1.32 +/- 0.33 mmol/L). There were significant differences of the HDL-C levels between subjects with genotype KK/B2B2 and those with each of the other genotype combinations (all P < 0.05).

CONCLUSION

Polymorphisms of theABCA1 and CETP genes are associated with altered plasma HDL-C concentrations.These associations on HDL-C levels are modified by BMI in a Chinese population of the Chengdu area.

摘要

目的

ATP结合盒转运蛋白A1(ABCA1)和胆固醇酯转运蛋白(CETP)参与高密度脂蛋白(HDL)代谢,在胆固醇逆向转运中起关键作用。本研究的主要目的是探讨中国西南地区人群中ABCA1和CETP基因多态性与超重/肥胖之间的可能关联。

方法与结果

采用聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)对成都地区338名汉族人(206名超重/肥胖者和132名正常对照者)进行研究。超重/肥胖组中ABCA1基因R219K、CETP基因Taq IB和-629C>A多态性的基因型和等位基因频率与对照组相比,差异无统计学意义。然而,在分析HDL-C水平时,超重/肥胖组中携带ABCA1基因KK基因型者的HDL-C水平在统计学上高于RR基因型携带者;对照组中携带CETP基因B2B2基因型者的血清HDL-C浓度略高于B1B1基因型者。此外,ABCA1基因R219K和CETP基因Taq IB多态性对HDL-C水平的联合基因型效应在对照组中明显:携带KK/B2B2基因型者的HDL-C水平最高(2.23±0.91 mmol/L),而携带RR/B1B1基因型者的HDL-C水平最低(1.32±0.33 mmol/L)。KK/B2B2基因型者与其他各基因型组合者的HDL-C水平差异有统计学意义(均P<0.05)。

结论

ABCA1和CETP基因多态性与血浆HDL-C浓度改变有关。在成都地区的中国人群中,这些与HDL-C水平的关联受到体重指数(BMI)的影响。

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