Division of Personalized Nutrition and Medicine, National Center for Toxicological Research, Jefferson, AR 72079, USA.
Biotechnol J. 2010 Sep;5(9):942-9. doi: 10.1002/biot.201000067.
Increasing consumption of refined carbohydrates is now being recognized as a primary contributor to the development of nutritionally related chronic diseases such as obesity and type 2 diabetes mellitus (T2DM). A data mining approach was used to evaluate the role of carbohydrate metabolic pathway genes in the development of obesity and T2DM. Data from public databases were used to map the position of the carbohydrate metabolic pathway genes to known quantitative trait loci (QTL) for obesity and T2DM and for examining the pathway genes for the presence of sequence and structural genetic variants such as single nucleotide polymorphisms (SNPs) and copy number variants (CNS), respectively. The results demonstrated that a majority of the genes of the carbohydrate metabolic pathways are associated with QTL for obesity and many for T2DM. In addition, some key genes of the pathways also encode non-synonymous SNPs that exhibit significant differences in population frequencies. This study emphasizes the significance of the metabolic pathways genes in the development of disease phenotypes, its differential occurrence across populations and between individuals, and a strategy for interpreting an individuals' risk for disease.
精制碳水化合物摄入量的增加,现在被认为是导致肥胖和 2 型糖尿病(T2DM)等与营养相关的慢性疾病的主要因素之一。本研究采用数据挖掘方法,评估碳水化合物代谢途径基因在肥胖和 T2DM 发展中的作用。利用公共数据库的数据,将碳水化合物代谢途径基因的位置映射到肥胖和 T2DM 的已知数量性状位点(QTL),并分别检查该途径基因是否存在序列和结构遗传变异,如单核苷酸多态性(SNP)和拷贝数变异(CNV)。结果表明,碳水化合物代谢途径的大多数基因与肥胖的 QTL 相关,许多基因也与 T2DM 相关。此外,该途径的一些关键基因还编码非同义 SNP,其在人群频率中存在显著差异。这项研究强调了代谢途径基因在疾病表型发展中的重要性,以及其在不同人群和个体之间的差异发生情况,同时还提出了一种解释个体疾病风险的策略。