Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks
Common polymorphisms of ATP binding cassette transporter A1, including a functional promoter polymorphism, associated with plasma high density lipoprotein cholesterol levels in Turks
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DOI：
10.1016/j.atherosclerosis.2005.03.004
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发表时间：
2005-12-01
期刊：
影响因子：
5.3
通讯作者：
Mahley, RW
中科院分区：
文献类型：
--
作者：
Hodoglugil, U;Williamson, DW;Mahley, RW
高水平的高密度脂蛋白胆固醇 (HDL-C) 在防止动脉粥样硬化发展中的作用通常归因于其在反向胆固醇转运中的作用，而 ATP 结合盒转运蛋白 A1 (ABCA1) 是该过程的关键要素。我们检查了土耳其人的 ABCA1 多态性，该人群的 HDL-C 水平非常低。我们在 2300 多名受试者中发现了 ABCA1 的 36 个变异，并对信息多态性进行了基因分型。 C-14T 和 V771M 多态性的罕见等位基因与男性较高的 HDL-C 水平相关，并且分别与 R219K 和 I883M 的罕见等位基因结合，与两性的较高 HDL-C 水平相关。 C-14T 和 V771M 多态性的罕见等位基因在高 HDL-C (>= 40mg/dl) 中比在低 HDL-C 组中更常见（
The role of high levels of high density lipoprotein cholesterol (HDL-C) in protection against development of atherosclerosis is generally attributed to its role in reverse cholesterol transport, and the ATP binding cassette transporter A1 (ABCA1) is a key element of this process. We examined polymorphisms in ABCA1 in Turks, a population characterized by very low HDL-C levels. We discovered 36 variations in ABCA1 and genotyped informative polymorphisms in over 2300 subjects. The rare alleles of C-14T and V771M polymorphisms were associated with higher HDL-C levels in men and, in combination with the rare alleles of R219K and I883M, respectively, with higher HDL-C in both sexes. Rare alleles of the C-14T and V771M polymorphisms were more frequent in the high HDL-C (>= 40mg/dl) than in the low HDL-C group (