de Oliveira Fabricio Ferreira, Chen Elizabeth Suchi, Smith Marilia Cardoso, Bertolucci Paulo Henrique Ferreira
Universidade Federal de Sao Paulo (UNIFESP), Escola Paulista de Medicina, Departamento de Neurologia e Neurocirurgia, Rua Botucatu 740, Vila Clementino, CEP 04023-900, Sao Paulo, SP, Brazil.
Department of Morphology and Genetics, Escola Paulista de Medicina, Federal University of Sao Paulo (UNIFESP), Sao Paulo, SP, Brazil.
Curr Alzheimer Res. 2018 Feb 22;15(4):386-398. doi: 10.2174/1567205014666171016101816.
While the angiotensin-converting enzyme degrades amyloid-β, angiotensinconverting enzyme inhibitors (ACEis) may slow cognitive decline by way of cholinergic effects, by increasing brain substance P and boosting the activity of neprilysin, and by modulating glucose homeostasis and augmenting the secretion of adipokines to enhance insulin sensitivity in patients with Alzheimer's disease dementia (AD). We aimed to investigate whether ACE gene polymorphisms rs1800764 and rs4291 are associated with cognitive and functional change in patients with AD, while also taking APOE haplotypes and anti-hypertensive treatment with ACEis into account for stratification.
Consecutive late-onset AD patients were screened with cognitive tests, while their caregivers were queried for functional and caregiver burden scores. Prospective pharmacogenetic correlations were estimated for one year, considering APOE and ACE genotypes and haplotypes, and treatment with ACEis.
For 193 patients, minor allele frequencies were 0.497 for rs1800764 - C (44.6% heterozygotes) and 0.345 for rs4291 - T (38.9% heterozygotes), both in Hardy-Weinberg equilibrium. Almost 94% of all patients used cholinesterase inhibitors, while 155 (80.3%) had arterial hypertension, and 124 used ACEis. No functional impacts were found regarding any genotypes or pharmacological treatment. Either for carriers of ACE haplotypes that included rs1800764 - T and rs4291 - A, or for APOE4- carriers of rs1800764 - T or rs4291 - T, ACEis slowed cognitive decline independently of blood pressure variations. APOE4+ carriers were not responsive to treatment with ACEis.
ACEis may slow cognitive decline for patients with AD, more remarkably for APOE4- carriers of specific ACE genotypes.
虽然血管紧张素转换酶可降解β-淀粉样蛋白,但血管紧张素转换酶抑制剂(ACEIs)可能通过胆碱能效应、增加脑P物质和增强中性内肽酶活性、调节葡萄糖稳态以及增加脂肪因子分泌以提高阿尔茨海默病痴呆(AD)患者的胰岛素敏感性来减缓认知衰退。我们旨在研究ACE基因多态性rs1800764和rs4291是否与AD患者的认知和功能变化相关,同时将APOE单倍型和使用ACEIs的抗高血压治疗纳入分层因素。
对连续性晚发型AD患者进行认知测试筛查,同时向其照料者询问功能和照料者负担评分。考虑APOE和ACE基因型及单倍型以及使用ACEIs的治疗情况,对前瞻性药物遗传学相关性进行为期一年的评估。
对于193例患者,rs1800764 - C的次要等位基因频率为0.497(44.6%杂合子),rs4291 - T的次要等位基因频率为0.345(38.9%杂合子),两者均处于哈迪-温伯格平衡。几乎所有患者的94%使用了胆碱酯酶抑制剂,155例(80.3%)患有动脉高血压,124例使用了ACEIs。未发现任何基因型或药物治疗有功能影响。对于包含rs1800764 - T和rs4291 - A的ACE单倍型携带者,或对于rs1800764 - T或rs4291 - T的APOE4携带者,ACEIs可独立于血压变化减缓认知衰退。APOE4+携带者对ACEIs治疗无反应。
ACEIs可能减缓AD患者的认知衰退,对于特定ACE基因型的APOE4-携带者更为显著。