Escobedo Jorge, Paz-Aragón Emmanuel, Vega-Rodríguez Luz Helena, Benítez Sanfeliz Miguel Alejandro, Estrada-Rodríguez Humberto, González-Figueroa Evangelina, Liceaga-Craviotto María Gabriela, Gutiérrez-Cuevas Jorge, Valladares-Salgado Adán, Cruz Miguel
Unidad de Investigación en Epidemiología Clínica, Hospital Regional 1, Instituto Mexicano del Seguro Social (IMSS), Mexico City, Mexico; Internal Medicine Department, Hospital General Regional No. 1. IMSS, Mexico City, Mexico.
Unidad de Investigación en Epidemiología Clínica, Hospital Regional 1, Instituto Mexicano del Seguro Social (IMSS), Mexico City, Mexico; Internal Medicine Department, Hospital General Regional No. 1. IMSS, Mexico City, Mexico.
J Stroke Cerebrovasc Dis. 2018 May;27(5):1357-1362. doi: 10.1016/j.jstrokecerebrovasdis.2017.12.025. Epub 2018 Feb 3.
Although there is adequate knowledge as to the role of traditional cardiovascular risk factors on stroke incidence, knowledge of other risk factors, particularly genetic ones, is still incomplete.
To assess the participation of some polymorphisms, along with other modifiable risk factors, a case-control study was conducted. A total of 253 cases were identified in the emergency room of a general regional hospital, with a clinical trait of stroke confirmed by a skull computerized axial tomography scan. In the surgery ward, 253 controls were identified, gender and age (±5 years) matched. Biochemical parameters were measured, and 4 polymorphisms were genotyped by polymerase chain reaction, rs1801133 (methylenetetrahydrofolate reductase [MTHFR]), rs1498373 (dimethylarginine dimethylaminohydrolase type 1 [DDAH1]), rs662799 (apolipoprotein A5 [APOA5]), and rs1799983 (endothelial nitric oxide). Odds ratios were estimated to assess the strength of association, with 95% confidence intervals, both in a matched case-control analysis and in a conditional regression analysis.
Cases had higher mean blood pressure and triglycerides and lower hemoglobin levels. Heterozygous and homozygous subjects to the rs1801133 variant of the MTHFR gene had a 3-fold higher risk of stroke. In the dominant model, those with the polymorphism rs662799 of the promoter region for APOA5 had twice the risk of stroke. Anemia increased the risk of stroke 4-fold.
Polymorphisms of the genes MTHFR (rs1801133) and APOA5 (rs662799), as well as anemia, are independent risk factors for stroke in Mexicans, together with traditional cardiovascular risk factors such as high triglycerides and high blood pressure.
尽管对于传统心血管危险因素在中风发病中的作用已有充分认识，但对其他危险因素，尤其是遗传因素的了解仍不完整。
为评估某些多态性以及其他可改变危险因素的作用，开展了一项病例对照研究。在一家地区综合医院的急诊室共确定了253例病例，其临床特征为经头颅计算机断层扫描确诊为中风。在外科病房，确定了253名对照，按性别和年龄（±5岁）匹配。测量了生化参数，并通过聚合酶链反应对4种多态性进行基因分型，分别为rs1801133（亚甲基四氢叶酸还原酶 [MTHFR]）、rs1498373（1型二甲基精氨酸二甲胺水解酶 [DDAH1]）、rs662799（载脂蛋白A5 [APOA5]）和rs1799983（内皮型一氧化氮）。在匹配病例对照分析和条件回归分析中均估计了比值比，以评估关联强度及95%置信区间。
病例组的平均血压和甘油三酯水平较高，血红蛋白水平较低。MTHFR基因rs1801133变异的杂合子和纯合子受试者中风风险高3倍。在显性模型中，APOA5启动子区域多态性rs662799的携带者中风风险为两倍。贫血使中风风险增加4倍。
MTHFR（rs1801133）和APOA5（rs662799）基因的多态性以及贫血，与高甘油三酯和高血压等传统心血管危险因素一样，是墨西哥人中风的独立危险因素。
