Fischer Simone Cristina Pinto Matheus, Pinto Simone Pires, Lins Lívia Campos do Amaral Silva, Bianco Henrique Tria, Monteiro Carlos Manoel de Castro, Pinheiro Luiz Fernando Muniz, Fonseca Francisco Antonio Helfenstein, Izar Maria Cristina de Oliveira
Universidade Federal de São Paulo (UNIFESP), São Paulo, SP - Brazil.
Arq Bras Cardiol. 2018 Jan;110(1):16-23. doi: 10.5935/abc.20170177. Epub 2018 Feb 1.
Metabolic syndrome (MS) is a condition that, when associated with ischemic heart disease and cardiovascular events, can be influenced by genetic variants and determine more severe coronary atherosclerosis.
To examine the contribution of genetic polymorphisms to the extension and severity of coronary disease in subjects with MS and recent acute coronary syndrome (ACS).
Patients (n = 116, 68% males) aged 56 (9) years, with criteria for MS, were prospectively enrolled to the study during the hospitalization period after an ACS. Clinical and laboratory parameters, high-sensitivity C-reactive protein, thiobarbituric acid reactive substances, adiponectin, endothelial function, and the Gensini score were assessed. Polymorphisms of paraoxonase-1 (PON-1), methylenotetrahydrofolate reductase (MTHFR), endothelial nitric oxide synthase (ENOS), angiotensin-converting enzyme (ACE), angiotensin II type 1 receptor (AT1R), apolipoprotein C3 (APOC3), lipoprotein lipase (LPL) were analysed by polymerase chain reaction (PCR) technique, followed by the identification of restriction fragment length polymorphisms (RFLP, and a genetic score was calculated. Parametric and non-parametric tests were used, as appropriate. Significance was set at p < 0.05.
Polymorphisms of PON-1, MTHFR and ENOS were not in the Hardy-Weinberg equilibrium. The DD genotype of LPL was associated with higher severity and greater extension of coronary lesions. Genetic score tended to be higher in patients with Gensini score < P50 (13.7 ± 1.5 vs. 13.0 ± 1.6, p = 0.066), with an inverse correlation between genetic and Gensini scores (R = -0.194, p = 0.078).
The LPL polymorphism contributed to the severity of coronary disease in patients with MS and recent ACS. Combined polymorphisms were associated with the extension of coronary disease, and the lower the genetic score the more severe the disease.
代谢综合征（MS）是一种与缺血性心脏病和心血管事件相关的病症，可能受基因变异影响，并导致更严重的冠状动脉粥样硬化。
研究基因多态性对患有MS和近期急性冠状动脉综合征（ACS）的患者冠状动脉疾病的范围和严重程度的影响。
年龄为56（9）岁、符合MS标准的患者（n = 116，68%为男性）在ACS后的住院期间前瞻性纳入本研究。评估临床和实验室参数、高敏C反应蛋白、硫代巴比妥酸反应性物质、脂联素、内皮功能和Gensini评分。采用聚合酶链反应（PCR）技术分析对氧磷酶-1（PON-1）、亚甲基四氢叶酸还原酶（MTHFR）、内皮型一氧化氮合酶（ENOS）、血管紧张素转换酶（ACE）、血管紧张素II 1型受体（AT1R）、载脂蛋白C3（APOC3）、脂蛋白脂肪酶（LPL）的多态性，随后鉴定限制性片段长度多态性（RFLP），并计算基因评分。酌情使用参数检验和非参数检验。显著性设定为p < 0.05。
PON-1、MTHFR和ENOS的多态性不符合哈迪-温伯格平衡。LPL的DD基因型与冠状动脉病变的更高严重程度和更大范围相关。Gensini评分 < P50的患者基因评分往往更高（13.7 ± 1.5对13.0 ± 1.6，p = 0.066），基因评分与Gensini评分呈负相关（R = -0.194，p = 0.078）。
LPL多态性导致患有MS和近期ACS的患者冠状动脉疾病的严重程度增加。联合多态性与冠状动脉疾病的范围相关，基因评分越低，疾病越严重。
