GENOMIC AND METABOLOMIC PROFILE ASSOCIATED TO CLUSTERING OF CARDIO-METABOLIC RISK FACTORS

the sample included individuals older than 18 years in the absence of serious concomitantdisease or psychiatric disorder, which could interfere with the study. All the subjectsincluded were white, living in an area with a low immigration rate.The study included the assessment of anthropometric measurements, blood pressure, glycaemia, lipid profile and smoking status as well as personal and familial informationabout cardiovascular risk factors and disease. Cardiometabolic risk factors were iidentified, according to the ATPIII criteria used for MS ], and MS was defined by the presence of three or more of the following components: 1) high waist circumference(men ≥ 102cm; women ≥88 cm); 2) high triglycerides (≥150mg/dL); 3) low HDLcholesterol (men ≥ 40mg/dL; women ≥50mg/dL); 4) high blood pressure (systolic bloodpressure ≥130 mmHg and/or diastolic blood pressure ≥ 85 mmHg or being onantihypertensive medications) and 5) high fasting glucose (≥ 110 mg/dL or being on drug treatment for elevated glucose). The subjects were divided into three groups:Group 1 comprised of 617 subjects with less than two risk criteria of the ATPIIguideline; Group 2 comprised of 295 subjects with 2 risk factors and Group 3 comprised of 283 subjects with 3 or more of the criteria, which is considered to be MS.Weight was assessed with precise scales while the individuals were without shoes andwearing light clothing. Height was determined in a similar way. Body mass index (BMI) was calculated using the following formula "weight (kg)/height2 (m)". Glucoseand lipid profile was measured in blood samples obtained with a mean of 3 hoursfasting (range 0-17). Basic serum biochemistry and lipid profile.Differences in the 28 metabolite values for each SNP in patients from Group 1 and Group 3 of each genotype were calculated. Finally, the metabolic profile and the most relevant metabolites of 5genotype and allele were compared between patients from Group 1 and Group 3. The data were co-variated with respect to age, sex and smoking status. Bonferroni correctionwas applied in all the analysis本研究纳入的研究对象均为18岁以上成年人，且无可能干扰本研究的严重合并症或精神疾病。所有研究对象均为白人，且居住于移民率较低的区域。 本研究对人体测量学指标、血压、血糖、血脂谱、吸烟状态进行了评估，同时收集了与心血管危险因素及疾病相关的个人与家族史信息。本研究依据用于代谢综合征（MS, Metabolic Syndrome）诊断的ATP III指南标准，识别心血管代谢危险因素；代谢综合征的定义为满足以下5项组分中的3项及以上：1）腰围升高：男性≥102cm，女性≥88cm；2）甘油三酯升高：≥150mg/dL；3）高密度脂蛋白胆固醇（HDL-C）降低：男性≥40mg/dL，女性≥50mg/dL；4）血压升高：收缩压≥130mmHg和/或舒张压≥85mmHg，或正在接受降压药物治疗；5）空腹血糖升高：≥110mg/dL，或正在接受降糖药物治疗。 研究对象被分为三组：第1组为617名满足ATP III指南中不足2项危险因素的受试者；第2组为295名满足2项危险因素的受试者；第3组为283名满足3项及以上组分（即符合代谢综合征诊断）的受试者。 体重测量采用精准体重秤，测量时受试者脱鞋、身着轻便衣物；身高测量采用相同标准流程。体质量指数（BMI, Body Mass Index）通过公式「体重(kg)/身高²(m²)」计算得出。 血糖与血脂谱检测采用平均空腹3小时（范围0~17小时）采集的血液样本进行，同时完成基础血清生化与血脂谱检测。 本研究计算了第1组与第3组中，各基因型受试者的28种代谢物水平在单核苷酸多态性（SNP, Single Nucleotide Polymorphism）层面的组间差异；最终对第1组与第3组受试者的代谢谱以及5种基因型与等位基因对应的关键代谢物进行了组间比较。所有数据均针对年龄、性别与吸烟状态进行了混杂因素校正；所有分析均采用邦费罗尼校正法进行多重比较校正。