Chen Elizabeth Suchi, Mazzotti Diego Robles, Furuya Tatiane Katsue, Cendoroglo Maysa Seabra, Ramos Luiz Roberto, Araujo Lara Quirino, Burbano Rommel Rodriguez, de Arruda Cardoso Smith Marília
Disciplina de Genética, Departamento de Morfologia e Genética, Escola Paulista de Medicina/Universidade Federal de São Paulo, Rua Botucatu, 740, Edifício Leitão da Cunha-1 andar, São Paulo, SP, CEP 04023-900, Brazil.
Clin Exp Med. 2009 Dec;9(4):319-25. doi: 10.1007/s10238-009-0051-3. Epub 2009 May 1.
Several polymorphisms in apolipoprotein A1 (APOA1) gene have been associated with metabolic diseases. Increased transcription efficiency was observed in -75A allele carriers compared to -75G allele homozygotes. +83C allele was associated with higher body mass index and waist-to-hip ratio in type II diabetes subjects. -75G/A and +83C/T polymorphisms were analyzed by RFLP-PCR in 334 individuals from a Brazilian elderly cohort. APOA1 polymorphisms were associated with age-related morbidities, as well as with triglycerides, total cholesterol, HDL, VLDL, LDL, creatinine, urea, albumin, glycated hemoglobin and fasting glucose serum levels. Allele frequencies were 0.102 and 0.21, respectively, for -75A and +83T. -75G allele showed significant association with hypertension (P = 0.001). An association between +83C allele and obesity was observed (P = 0.040) and this allele also showed an association with hypertension in the presence of cardiovascular disease (P = 0.047). Moreover, +83T allele was associated with lower glycated hemoglobin values (P = 0.026). To our knowledge, there is no data associating this polymorphism with glycated hemoglobin. Furthermore, individuals carrying AT haplotype have lower risk for developing hypertension (P = 0.0002), while GT haplotype carriers present decreased risk to develop obesity comparing to GC haplotype (P = 0.025). APOA1 polymorphisms analysis may be a useful tool to identify risk factors for subjects and families and clarify the physiopathological role of these polymorphisms in age-related diseases, such as hypertension and obesity.
载脂蛋白A1(APOA1)基因中的几种多态性与代谢性疾病有关。与-75G等位基因纯合子相比,在-75A等位基因携带者中观察到转录效率增加。在II型糖尿病患者中,+83C等位基因与较高的体重指数和腰臀比相关。通过RFLP-PCR分析了来自巴西老年队列的334名个体的-75G/A和+83C/T多态性。APOA1多态性与年龄相关疾病以及甘油三酯、总胆固醇、高密度脂蛋白、极低密度脂蛋白、低密度脂蛋白、肌酐、尿素、白蛋白、糖化血红蛋白和空腹血糖血清水平有关。-75A和+83T的等位基因频率分别为0.102和0.21。-75G等位基因与高血压显著相关(P = 0.001)。观察到+83C等位基因与肥胖之间存在关联(P = 0.040),并且在存在心血管疾病的情况下,该等位基因也与高血压有关联(P = 0.047)。此外,+83T等位基因与较低的糖化血红蛋白值相关(P = 0.026)。据我们所知,没有数据将这种多态性与糖化血红蛋白联系起来。此外,携带AT单倍型的个体患高血压的风险较低(P = 0.0002),而与GC单倍型相比,GT单倍型携带者患肥胖症的风险降低(P = 0.025)。APOA1多态性分析可能是识别个体和家庭危险因素的有用工具,并阐明这些多态性在高血压和肥胖等年龄相关疾病中的生理病理作用。