Department of Pediatrics, Baylor College of Medicine, US Department of Agriculture/Agricultural Research Service Children's Nutrition Research Center, Houston, TX, USA.
Physiol Genomics. 2011 Sep 22;43(18):1029-37. doi: 10.1152/physiolgenomics.00019.2011. Epub 2011 Jul 19.
Our objective was to resequence insulin receptor substrate 2 (IRS2) to identify variants associated with obesity- and diabetes-related traits in Hispanic children. Exonic and intronic segments, 5' and 3' flanking regions of IRS2 (∼14.5 kb), were bidirectionally sequenced for single nucleotide polymorphism (SNP) discovery in 934 Hispanic children using 3730XL DNA Sequencers. Additionally, 15 SNPs derived from Illumina HumanOmni1-Quad BeadChips were analyzed. Measured genotype analysis tested associations between SNPs and obesity and diabetes-related traits. Bayesian quantitative trait nucleotide analysis was used to statistically infer the most likely functional polymorphisms. A total of 140 SNPs were identified with minor allele frequencies (MAF) ranging from 0.001 to 0.47. Forty-two of the 70 coding SNPs result in nonsynonymous amino acid substitutions relative to the consensus sequence; 28 SNPs were detected in the promoter, 12 in introns, 28 in the 3'-UTR, and 2 in the 5'-UTR. Two insertion/deletions (indels) were detected. Ten independent rare SNPs (MAF = 0.001-0.009) were associated with obesity-related traits (P = 0.01-0.00002). SNP 10510452_139 in the promoter region was shown to have a high posterior probability (P = 0.77-0.86) of influencing BMI, fat mass, and waist circumference in Hispanic children. SNP 10510452_139 contributed between 2 and 4% of the population variance in body weight and composition. None of the SNPs or indels were associated with diabetes-related traits or accounted for a previously identified quantitative trait locus on chromosome 13 for fasting serum glucose. Rare but not common IRS2 variants may play a role in the regulation of body weight but not an essential role in fasting glucose homeostasis in Hispanic children.
我们的目标是重新测序胰岛素受体底物 2(IRS2),以鉴定与西班牙裔儿童肥胖和糖尿病相关特征相关的变体。在 934 名西班牙裔儿童中,使用 3730XL DNA 测序仪对 IRS2 的外显子和内含子片段、5' 和 3'侧翼区域进行了双向测序,以发现单核苷酸多态性(SNP)。此外,还分析了来自 Illumina HumanOmni1-Quad BeadChips 的 15 个 SNP。测量基因型分析测试了 SNP 与肥胖和糖尿病相关特征之间的关联。贝叶斯数量性状核苷酸分析用于统计推断最可能的功能多态性。确定了 140 个 SNP,其次要等位基因频率(MAF)范围为 0.001 至 0.47。70 个编码 SNP 中有 42 个相对于共识序列导致非同义氨基酸取代;28 个 SNP 位于启动子中,12 个位于内含子中,28 个位于 3'-UTR 中,2 个位于 5'-UTR 中。检测到两个插入/缺失(indels)。10 个独立的罕见 SNP(MAF=0.001-0.009)与肥胖相关特征相关(P=0.01-0.00002)。启动子区域的 SNP10510452_139 显示出影响西班牙裔儿童 BMI、脂肪量和腰围的高后验概率(P=0.77-0.86)。SNP10510452_139 对体重和成分的人群变异贡献了 2%至 4%。没有 SNP 或 indels 与糖尿病相关特征相关,也没有解释 13 号染色体上先前确定的空腹血清葡萄糖数量性状位点。罕见但不常见的 IRS2 变体可能在体重调节中起作用,但在西班牙裔儿童的空腹血糖稳态中不起关键作用。