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西班牙裔人群儿童肥胖发病机制的新遗传位点。

Novel genetic loci identified for the pathophysiology of childhood obesity in the Hispanic population.

机构信息

Department of Genetics, Texas Biomedical Research Institute, San Antonio, Texas, USA.

出版信息

PLoS One. 2012;7(12):e51954. doi: 10.1371/journal.pone.0051954. Epub 2012 Dec 14.

Abstract

Genetic variants responsible for susceptibility to obesity and its comorbidities among Hispanic children have not been identified. The VIVA LA FAMILIA Study was designed to genetically map childhood obesity and associated biological processes in the Hispanic population. A genome-wide association study (GWAS) entailed genotyping 1.1 million single nucleotide polymorphisms (SNPs) using the Illumina Infinium technology in 815 children. Measured genotype analysis was performed between genetic markers and obesity-related traits i.e., anthropometry, body composition, growth, metabolites, hormones, inflammation, diet, energy expenditure, substrate utilization and physical activity. Identified genome-wide significant loci: 1) corroborated genes implicated in other studies (MTNR1B, ZNF259/APOA5, XPA/FOXE1 (TTF-2), DARC, CCR3, ABO); 2) localized novel genes in plausible biological pathways (PCSK2, ARHGAP11A, CHRNA3); and 3) revealed novel genes with unknown function in obesity pathogenesis (MATK, COL4A1). Salient findings include a nonsynonymous SNP (rs1056513) in INADL (p = 1.2E-07) for weight; an intronic variant in MTNR1B associated with fasting glucose (p = 3.7E-08); variants in the APOA5-ZNF259 region associated with triglycerides (p = 2.5-4.8E-08); an intronic variant in PCSK2 associated with total antioxidants (p = 7.6E-08); a block of 23 SNPs in XPA/FOXE1 (TTF-2) associated with serum TSH (p = 5.5E-08 to 1.0E-09); a nonsynonymous SNP (p = 1.3E-21), an intronic SNP (p = 3.6E-13) in DARC identified for MCP-1; an intronic variant in ARHGAP11A associated with sleep duration (p = 5.0E-08); and, after adjusting for body weight, variants in MATK for total energy expenditure (p = 2.7E-08) and in CHRNA3 for sleeping energy expenditure (p = 6.0E-08). Unprecedented phenotyping and high-density SNP genotyping enabled localization of novel genetic loci associated with the pathophysiology of childhood obesity.

摘要

导致西班牙裔儿童肥胖及其合并症的遗传变异尚未确定。VIVA LA FAMILIA 研究旨在对西班牙裔人群的儿童肥胖及其相关生物学过程进行基因图谱绘制。全基因组关联研究(GWAS)使用 Illumina Infinium 技术对 815 名儿童的 110 万个单核苷酸多态性(SNP)进行基因分型。在遗传标记和肥胖相关特征(即人体测量学、身体成分、生长、代谢物、激素、炎症、饮食、能量消耗、底物利用和体力活动)之间进行了已测量基因型分析。鉴定出全基因组显著相关的基因座:1)证实了与其他研究相关的基因(MTNR1B、ZNF259/APOA5、XPA/FOXE1(TTF-2)、DARC、CCR3、ABO);2)定位了新的基因在合理的生物学途径(PCSK2、ARHGAP11A、CHRNA3);3)揭示了肥胖发病机制中具有未知功能的新基因(MATK、COL4A1)。显著发现包括 INADL 中的非同义 SNP(rs1056513)与体重相关(p = 1.2E-07);MTNR1B 中的内含子变异与空腹血糖相关(p = 3.7E-08);APOA5-ZNF259 区域的变异与甘油三酯相关(p = 2.5-4.8E-08);PCSK2 中的内含子变异与总抗氧化剂相关(p = 7.6E-08);XPA/FOXE1(TTF-2)中的 23 个 SNP 块与血清 TSH 相关(p = 5.5E-08 至 1.0E-09);DARC 中的一个非同义 SNP(p = 1.3E-21)和一个内含子 SNP(p = 3.6E-13)与 MCP-1 相关;ARHGAP11A 中的内含子变异与睡眠时间相关(p = 5.0E-08);并在调整体重后,MATK 中的变异与总能量消耗相关(p = 2.7E-08),CHRNA3 中的变异与睡眠能量消耗相关(p = 6.0E-08)。前所未有的表型分析和高密度 SNP 基因分型使与儿童肥胖病理生理学相关的新遗传基因座得以定位。

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