Shmulewitz D, Auerbach S B, Lehner T, Blundell M L, Winick J D, Youngman L D, Skilling V, Heath S C, Ott J, Stoffel M, Breslow J L, Friedman J M
Laboratory of Molecular Genetics, Rockefeller University, New York, NY 10021, USA.
Hum Hered. 2001;51(1-2):8-19. doi: 10.1159/000022953.
Obesity, type II diabetes, hypertension, and dyslipidemia are major causes of morbidity and mortality throughout the world. Though these disorders often cluster in individuals and families and are collectively known as syndrome X, the basis for this aggregation is not well understood. To further understand the pathogenesis of syndrome X, a comprehensive epidemiological study was undertaken on the Pacific Island of Kosrae, Federated States of Micronesia (FSM).
The entire adult (>20 years of age) population of Kosrae underwent a clinical evaluation that included a questionnaire that noted the participants' sex, family data including listing of biological parents, siblings, and children, smoking status, village of residence, age and health status. The medical evaluation included: anthropometric measures (weight, height, waist, hip), serum chemistries (leptin, fasting blood sugar (FBS), insulin, total cholesterol (TC), triglycerides (TG), and apolipoproteins B and A-I (apo B and apo A-I) and blood pressure (BP) measurements.
Obesity (BMI >/=35) was found in 24%, diabetes (FBS >/=126 or 2-hour oral glucose tolerance test >/=200) in 12%, hypertension (SBP >/=140 or DBP >/=90) in 17%, and dyslipidemia (TC >/=240 or TG >/=200 or apo B >/=120 or apo A-I </=88) in 20% of the population. Significant covariate effects after multivariate analysis were as follows: sex affected the frequency of all four disorders, parity affected the frequency of dyslipidemia, smoking affected the frequency of obesity and diabetes, village of residence affected the frequency of obesity, hypertension, and dyslipidemia, and age affected the frequency of all four disorders. Factor analysis identified four independent factors that explained 73% of the total variance of the entire data set: factor 1 (weight, waist, leptin, insulin, and TG), factor 2 (TC, TG, apo B, apo A-I, and insulin), factor 3 (systolic and diastolic BP, FBS, waist and weight), and factor 4 (apo A-I, TG, leptin, and weight).
This population-based study on the Island of Kosrae suggests that syndrome X is a composite of 4 independent factors: obesity with diabetes and hypertriglyceridemia, combined hyperlipidemia with diabetes, hypertension with obesity and diabetes, and increased HDL-low TG with thinness and high leptin. Further studies to identify the genetic components of these factors as well as the individual traits are under way.
肥胖、II型糖尿病、高血压和血脂异常是全球发病和死亡的主要原因。尽管这些疾病常聚集于个体和家庭中，统称为X综合征，但这种聚集的基础尚不清楚。为进一步了解X综合征的发病机制，在密克罗尼西亚联邦的科斯雷太平洋岛屿上进行了一项全面的流行病学研究。
科斯雷岛所有成年（>20岁）人群接受了临床评估，包括一份问卷，记录参与者的性别、家庭数据（包括亲生父母、兄弟姐妹和子女的情况）、吸烟状况、居住村庄、年龄和健康状况。医学评估包括：人体测量指标（体重、身高、腰围、臀围）、血清化学指标（瘦素、空腹血糖（FBS）、胰岛素、总胆固醇（TC）、甘油三酯（TG）以及载脂蛋白B和A-I（apo B和apo A-I））和血压（BP）测量。
该人群中肥胖（BMI≥35）的发生率为24%，糖尿病（FBS≥126或口服葡萄糖耐量试验2小时≥200）为12%，高血压（收缩压≥140或舒张压≥90）为17%，血脂异常（TC≥240或TG≥200或apo B≥120或apo A-I≤88）为20%。多变量分析后的显著协变量效应如下：性别影响所有四种疾病的发生率，产次影响血脂异常的发生率，吸烟影响肥胖和糖尿病的发生率，居住村庄影响肥胖、高血压和血脂异常的发生率，年龄影响所有四种疾病的发生率。因子分析确定了四个独立因子，解释了整个数据集总方差的73%：因子1（体重、腰围、瘦素、胰岛素和TG），因子2（TC、TG、apo B、apo A-I和胰岛素），因子3（收缩压和舒张压、FBS、腰围和体重），因子4（apo A-I、TG、瘦素和体重）。
这项基于科斯雷岛人群的研究表明，X综合征是由4个独立因子组成的：肥胖合并糖尿病和高甘油三酯血症、混合性高脂血症合并糖尿病、高血压合并肥胖和糖尿病、HDL升高-低TG合并消瘦和高瘦素。目前正在进行进一步研究以确定这些因子的遗传成分以及个体特征。
