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.<br>The study included the assessment of anthropometric measurements, blood pressure, glycaemia, lipid profile and smoking status as well as personal and familial information<br>about 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 HDL<br>cholesterol (men ≥ 40mg/dL; women ≥50mg/dL); 4) high blood pressure (systolic blood<br>pressure ≥130 mmHg and/or diastolic blood pressure ≥ 85 mmHg or being on<br>antihypertensive medications) and 5) high fasting glucose (≥ 110 mg/dL or being on drug treatment for elevated glucose). The subjects were divided into three groups:<br>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 and<br>wearing light clothing. Height was determined in a similar way. Body mass index (BMI) was calculated using the following formula "weight (kg)/height2 (m)". Glucose<br>and 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 5<br>genotype 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<br><br>

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。所有受试者均为白人，且居住在移民率较低的地区。
本研究对受试者的人体测量学指标、血压、血糖、血脂谱、吸烟状况进行了评估，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。
依据用于代谢综合征（Metabolic Syndrome, MS）的ATPIII标准，本研究明确了心脏代谢危险因素；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（HDL）胆固醇降低（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）。
受试者被分为三组：第1组共617例，满足ATPIII指南中的危险因素不足2项；第2组共295例，满足2项危险因素；第3组共283例，满足3项及以上上述组分，即符合代谢综合征诊断。
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；身高测量采用相同规范。体重指数（Body Mass Index, BMI）通过以下公式计算："weight (kg)/height² (m²)"。
血糖与血脂谱检测采用平均空腹时长3小时（范围0~17小时）采集的血液样本，同时完成基础血清生化与血脂谱检测。
计算第1组与第3组受试者中，各基因型对应的28种代谢物水平在单核苷酸多态性（Single Nucleotide Polymorphism, SNP）下的组间差异。最终，比较第1组与第3组受试者的代谢谱以及与5种基因型和等位基因最相关的代谢物水平。
所有数据均针对年龄、性别与吸烟状况进行协变量校正。所有分析均采用Bonferroni校正法。