University of Texas Health Science Center at San Antonio UTHSCSA, San Antonio, TX, USA.
Hum Genet. 2013 Sep;132(9):1059-71. doi: 10.1007/s00439-013-1315-2. Epub 2013 Jun 5.
Pediatric metabolic syndrome (MS) and its cardiometabolic components (MSCs) have become increasingly prevalent, yet little is known about the genetics underlying MS risk in children. We examined the prevalence and genetics of MS-related traits among 670 non-diabetic Mexican American (MA) children and adolescents, aged 6-17 years (49 % female), who were participants in the San Antonio Family Assessment of Metabolic Risk Indicators in Youth study. These children are offspring or biological relatives of adult participants from three well-established Mexican American family studies in San Antonio, TX, at increased risk of type 2 diabetes. MS was defined as ≥3 abnormalities among 6 MSC measures: waist circumference, systolic and/or diastolic blood pressure, fasting insulin, triglycerides, HDL-cholesterol, and fasting and/or 2-h OGTT glucose. Genetic analyses of MS, number of MSCs (MSC-N), MS factors, and bivariate MS traits were performed. Overweight/obesity (53 %), pre-diabetes (13 %), acanthosis nigricans (33 %), and MS (19 %) were strikingly prevalent, as were MS components, including abdominal adiposity (32 %) and low HDL-cholesterol (32 %). Factor analysis of MS traits yielded three constructs: adipo-insulin-lipid, blood pressure, and glucose factors, and their factor scores were highly heritable. MS itself exhibited 68 % heritability. MSC-N showed strong positive genetic correlations with obesity, insulin resistance, inflammation, and acanthosis nigricans, and negative genetic correlation with physical fitness. MS trait pairs exhibited strong genetic and/or environmental correlations. These findings highlight the complex genetic architecture of MS/MSCs in MA children, and underscore the need for early screening and intervention to prevent chronic sequelae in this vulnerable pediatric population.
儿童代谢综合征 (MS) 及其心血管代谢成分 (MSCs) 的患病率不断上升,但儿童患 MS 风险的遗传基础知之甚少。我们检查了 670 名非糖尿病墨西哥裔美国 (MA) 儿童和青少年(49%为女性)的 MS 相关特征的患病率和遗传学,他们的年龄为 6-17 岁,是德克萨斯州圣安东尼奥代谢风险指标的青少年家族评估研究的参与者。这些儿童是圣安东尼奥三项已建立的墨西哥裔美国家族研究中成年参与者的后代或生物学亲属,患有 2 型糖尿病的风险增加。MS 是指 6 项 MSCs 测量中的≥3 项异常:腰围、收缩压和/或舒张压、空腹胰岛素、甘油三酯、HDL-胆固醇以及空腹和/或 2 小时 OGTT 葡萄糖。对 MS、MSCs 数量 (MSC-N)、MS 因子和双变量 MS 特征进行了遗传分析。超重/肥胖 (53%)、糖尿病前期 (13%)、黑棘皮症 (33%) 和 MS (19%) 的患病率极高,腹部肥胖 (32%) 和低 HDL-胆固醇 (32%) 等 MS 成分也很常见。MS 特征的因子分析得出了三个结构:脂肪-胰岛素-脂质、血压和葡萄糖因子,它们的因子得分具有高度的遗传性。MS 本身的遗传率为 68%。MSC-N 与肥胖、胰岛素抵抗、炎症和黑棘皮症呈强烈的正遗传相关,与身体适应性呈负遗传相关。MS 特征对表现出强烈的遗传和/或环境相关。这些发现强调了 MA 儿童 MS/MSCs 复杂的遗传结构,并强调了在这个脆弱的儿科人群中进行早期筛查和干预以预防慢性后遗症的必要性。