Because of the importance of cholesterol metabolism in the physiopathogenesis of dementia, and knowing the function of ATP-binding cassette A1 transporter (ABCA1) as a cholesterol flow pump at the cellular and cerebral level, it has been noted that the ABCA1 gene may be a good candidate for disease study. In order to evaluate the relationship between ABCA1 genetic variants and the risk of Alzheimer's disease and other dementia in Mexican individuals, we examined three ABCA1 polymorphisms located in the exonic region (rs2230808, rs2066718, rs2230806) and two in the promoter region (rs1800977, rs2422493) in a group of 557 normal controls and 221 cases of dementia. It was possible to distinguish one protective haplotype: CCCCGC (OR = 0,502, 95% CI = 0,370-0,681, p < 0.001), and one risk haplotype TCCCAT (OR = 2208, 95% CI = 1609-3031, p < 0.000) for the development of dementia. The results suggest that ABCA1 plays an important role in the pathophysiological mechanisms for the development of dementia.

中文翻译：

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ABCA1 基因变异与痴呆易感性的关联：（SADEM 研究）。

由于胆固醇代谢在痴呆的生理发病机制中的重要性，并且知道 ATP 结合盒 A1 转运蛋白 (ABCA1) 作为细胞和大脑水平的胆固醇流动泵的功能，已经注意到 ABCA1 基因可能是疾病研究的理想人选。为了评估 ABCA1 遗传变异与墨西哥个体患阿尔茨海默病和其他痴呆症风险之间的关系，我们检查了位于外显子区的三个 ABCA1 多态性（rs2230808、rs2066718、rs2230806）和两个位于启动子区的多态性（rs1800977、rs242249 ) 在一组 557 名正常对照者和 221 名痴呆症患者中。可以区分一种保护性单倍型：CCCCGC（OR = 0,502，95% CI = 0,370-0,681，p < 0.001）和一种风险单倍型 TCCCAT（OR = 2208，95% CI = 1609-3031，p < 0。000）用于痴呆症的发展。结果表明，ABCA1在痴呆发展的病理生理机制中起重要作用。