Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.
Novel common copy number variation for early onset extreme obesity on chromosome 11q11 identified by a genome-wide analysis.
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DOI：
10.1093/hmg/ddq518
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发表时间：
2011-02-15
影响因子：
3.5
通讯作者：
Scherag A
中科院分区：
文献类型：
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作者：
Jarick I;Vogel CI;Scherag S;Schäfer H;Hebebrand J;Hinney A;Scherag A
肥胖症的遗传力是实质性的，近期基因组关联研究的荟萃分析（GWASS）已成功地检测出使用单核苷酸多态性（SNP）的几个鲁棒相关的基因组区域。整体遗传力的一小部分。 CNV和早期发作的极端肥胖症。 6.0。独立样本的365个肥胖三重奏，确认了两个候选CNVR的关联。 ;肥胖效应等位基因= 1.19; 95％的置信区间= 1.016–1.394。 NEGR1和染色体10q11.22）以前据报道与体重相关。我们的研究包括常见的CNV不太可能为早期发作的极端肥胖的遗传基础做出重大贡献。
Heritability of obesity is substantial and recent meta-analyses of genome-wide association studies (GWASs) have been successful in detecting several robustly associated genomic regions for obesity using single-nucleotide polymorphisms (SNPs). However, taken together, the SNPs explain only a small proportion of the overall heritability. Copy number variations (CNVs) might contribute to the ‘missing heritability’. We searched genome-wide for association between common CNVs and early-onset extreme obesity. Four hundred and twenty-four case-parents obesity trios and an independent sample of 453 extremely obese children and adolescents and 435 normal-weight and lean adult controls were genotyped by the Affymetrix Genome-Wide Human SNP Array 6.0. We detected 20 common copy number variable regions (CNVRs) which were associated with obesity. The most promising CNVRs were followed-up in an independent sample of 365 obesity trios, confirming the association for two candidate CNVRs. We identified a common CNVR exclusively covering the three olfactory receptor genes OR4P4, OR4S2 and OR4C6 to be associated with obesity (combined P-value = 0.015 in a total of 789 families; odds ratio for the obesity effect allele = 1.19; 95% confidence interval = 1.016–1.394). We also replicated two common deletions (near NEGR1 and at chromosome 10q11.22) that have previously been reported to be associated with body weight. Additionally, we support a rare CNV on chromosome 16 that has recently been reported by two independent groups. However, rare CNVs had not been the focus of our study. We conclude that common CNVs are unlikely to contribute substantially to the genetic basis of early-onset extreme obesity.
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