ArticleThe Journal of clinical endocrinology and metabolism2013
Copy number variation on chromosome 10q26.3 for obesity identified by a genome-wide study.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- [From genotype to phenotype: amylase gene in childhood obesity].Revista medica del Instituto Mexicano del Seguro Social · 2023Review
- Association of Salivary Amylase (Nutrients · 2019Article
- Novel genes involved in severe early-onset obesity revealed by rare copy number and sequence variants.PLoS genetics · 2017Article
- Copy Number Variations in Candidate Genes and Intergenic Regions Affect Body Mass Index and Abdominal Obesity in Mexican Children.BioMed research international · 2017Article
- Gene copy number variation analysis reveals dosage-insensitive expression of CYP2E1.The pharmacogenomics journal · 2016Article
- Genome-wide Survey of Runs of Homozygosity Identifies Recessive Loci for Bone Mineral Density in Caucasian and Chinese Populations.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2015Article
- A Copy Number Variant on Chromosome 20q13.3 Implicated in Thinness and Severe Obesity.Journal of obesity · 2015Article
- Global copy number analyses by next generation sequencing provide insight into pig genome variation.BMC genomics · 2014Article
- Genome-wide copy number variation study and gene expression analysis identify ABI3BP as a susceptibility gene for Kashin-Beck disease.Human genetics · 2014Article
- Comparative study of exome copy number variation estimation tools using array comparative genomic hybridization as control.BioMed research international · 2013Article
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Authors and funding
14 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundObesity is a highly heritable disease defined by high body mass index (BMI). However, a large proportion of the heritability of obesity remains unexplained. Copy number variations (CNVs) might contribute to the missing heritability of obesity.
methodsWe conducted genome-wide CNV analyses on obesity phenotypes, including BMI and body fat mass in a discovery sample of 2215 unrelated white subjects. After quality control, 314 CNVs were used for association tests. For significant CNVs identified, follow-up replication analyses were performed in three independent samples, including an unrelated sample of 1000 white subjects (OM sample), a family-based sample of 8385 white subjects (FHS sample), and an African-American sample of 1479 obesity cases and 1575 lean controls (AA sample).
resultsGenome-wide CNV analyses detected that a CNV located at 10q26.3, which, even after multiple testing corrections, showed a strong association with both BMI (P = 2.30 × 10(-4), β = 2.164) and body fat mass (P = 6.76 × 10(-5), β = 4.126). This CNV was successfully replicated in the three replication samples (OM sample: P = 0.0465 for BMI, 0.0435 for fat mass; FHS sample: P = 0.0038 for BMI; AA sample: P = 0.0023 for obesity). Quantitative PCR validated this CNV, which covers a gene, CYP2E1. The protein encoded by CYP2E1 involves the synthesis of cholesterol, steroids and other lipids, which may have a potential impact on obesity.
conclusionOur findings suggest the significant contribution of CNV10q26.3 to the pathogenesis of obesity.
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