Unidad de Investigación Epidemiológica y en Servicios de Salud, Área Envejecimiento. Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social (Actualmente comisionada en la Unidad de Investigación en Epidemiológica Clínica, Hospital General Regional Núm. 1 Dr. Carlos Mac Gregor Sánchez Navarro, Gabriel Mancera 222 esq. Xola. Colonia Del Valle. Delegación. Benito Juárez, IMSS), Mexico City, Mexico.
Unidad de invetigación Médica en Farmacología UMAE, Hospital de Especialidades Centro Médico Nacional Siglo XXI, Instituto Mexicano del Seguro Social, Mexico City, Mexico.
Metab Brain Dis. 2020 Aug;35(6):915-922. doi: 10.1007/s11011-020-00577-4. Epub 2020 May 23.
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.
由于胆固醇代谢在痴呆症的病理生理学中的重要性，并且知道 ATP 结合盒 A1 转运体 (ABCA1) 在细胞和大脑水平作为胆固醇流动泵的功能，因此注意到 ABCA1 基因可能是疾病研究的良好候选基因。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的风险之间的关系，我们检查了位于外显子区域的三个 ABCA1 多态性（rs2230808、rs2066718、rs2230806）和两个启动子区域（rs1800977、rs2422493）在一组 557 名正常对照和 221 例痴呆症患者中。可以区分一种保护性单倍型：CCC CGC（OR=0.502，95%CI=0.370-0.681，p<0.001）和一种风险单倍型 TCC CAT（OR=2208，95%CI=1609-3031，p<0.000）用于痴呆的发展。结果表明，ABCA1 在痴呆症发展的病理生理机制中起重要作用。
