Bossé Yohan, Després Jean-Pierre, Chagnon Yvon C, Rice Treva, Rao D C, Bouchard Claude, Pérusse Louis, Vohl Marie-Claude
Lipid Research Center, CHUL Research Center, Sainte-Foy, Quebec G1V 4G2, Canada.
Obesity (Silver Spring). 2007 Mar;15(3):544-50. doi: 10.1038/oby.2007.577.
The metabolic syndrome represents a cluster of cardiovascular risk factors co-occurring in the same individual. The aim of this study was to identify chromosomal regions encoding genes predisposing to the metabolic syndrome using composite factors derived from maximum likelihood-based factor analysis. Genetic data were obtained from the Quebec Family Study and included 707 subjects from 264 nuclear families. Factor analyses were performed on eight metabolic syndrome-related phenotypes including waist circumference; BMI; systolic and diastolic blood pressure; and plasma insulin, glucose, triglyceride, and high-density lipoprotein-cholesterol levels. Three factors were identified and interpreted as general metabolic syndrome, blood pressure, and blood lipids, respectively. The general metabolic syndrome factor had high factor loadings (>0.4) for all phenotypes and explained 42% of the total variance, and family membership accounted for 45.6% of the factor variance. A genome-wide linkage scan performed with this first factor revealed the existence of a quantitative trait locus on chromosome 15 (86 cM) with a logarithm of odds score of 3.15. Suggestive evidence of linkage (logarithm of odds > 1.75) was also observed on chromosomes 1p, 3p, 3q, 6q, 7p, 19q, and 21q. These quantitative trait loci may harbor genes contributing to the clustering of the metabolic syndrome-related phenotypes.
代谢综合征是指在同一个体中同时出现的一组心血管危险因素。本研究的目的是使用基于最大似然因子分析得出的复合因子，来识别编码易患代谢综合征基因的染色体区域。遗传数据来自魁北克家庭研究，包括来自264个核心家庭的707名受试者。对包括腰围、体重指数、收缩压和舒张压以及血浆胰岛素、葡萄糖、甘油三酯和高密度脂蛋白胆固醇水平在内的8种与代谢综合征相关的表型进行了因子分析。确定了三个因子，分别解释为一般代谢综合征、血压和血脂。一般代谢综合征因子对所有表型都有较高的因子负荷（>0.4），解释了总方差的42%，而家系成员关系占因子方差的45.6%。对这第一个因子进行全基因组连锁扫描，发现在15号染色体（86厘摩）上存在一个数量性状位点，对数优势分数为3.15。在1号染色体p臂、3号染色体p臂和q臂、6号染色体q臂、7号染色体p臂、19号染色体q臂和21号染色体q臂上也观察到了连锁的提示性证据（对数优势>1.75）。这些数量性状位点可能含有导致与代谢综合征相关表型聚集的基因。
