ArticleBMC genetics2007
Mutation screen and association studies in the diacylglycerol O-acyltransferase homolog 2 gene (DGAT2), a positional candidate gene for early onset obesity on chromosome 11q13.
Article in BMC genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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16 citing papers in PubMed, 30 citations in OpenAlex.
- Mitochondria and Lipid Droplets: Focus on the Molecular Structure of Contact Sites in the Pathogenesis of Metabolic Syndrome.Current medicinal chemistry · 2025Review
- Transcriptome analysis of perirenal fat from Spanish Assaf suckling lamb carcasses showing different levels of kidney knob and channel fat.Frontiers in veterinary science · 2023Article
- Transcriptome study digs out BMP2 involved in adipogenesis in sheep tails.BMC genomics · 2022Article
- Induced Torpor as a Countermeasure for Low Dose Radiation Exposure in a Zebrafish Model.Cells · 2021Article
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- From Congenital Disorders of Fat Malabsorption to Understanding Intra-Enterocyte Mechanisms Behind Chylomicron Assembly and Secretion.Frontiers in physiology · 2021Review
- RNA-Seq based genetic variant discovery provides new insights into controlling fat deposition in the tail of sheep.Scientific reports · 2020Article
- A novel prognostic signature of seven genes for the prediction in patients with thymoma.Journal of cancer research and clinical oncology · 2019Article
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- Liver fat reduction with niacin is influenced by DGAT-2 polymorphisms in hypertriglyceridemic patients.Journal of lipid research · 2012Article
- Isolation, mapping, SNP detection and association with backfat traits of the porcine CTNNBL1 and DGAT2 genes.Molecular biology reports · 2012Article
- Mammalian triacylglycerol metabolism: synthesis, lipolysis, and signaling.Chemical reviews · 2011Review
- Genetic determinants of hepatic steatosis in man.Journal of lipid research · 2011Review
- Gastric inhibitory polypeptide receptor: association analyses for obesity of several polymorphisms in large study groups.BMC medical genetics · 2009Article
- Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis.Journal of lipid research · 2008Review
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Authors and funding
13 authors at 8 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDGAT2 is a promising candidate gene for obesity because of its function as a key enzyme in fat metabolism and because of its localization on chromosome 11q13, a linkage region for extreme early onset obesity detected in our sample. We performed a mutation screen in 93 extremely obese children and adolescents and 94 healthy underweight controls. Association studies were performed in samples of up to 361 extremely obese children and adolescents and 445 healthy underweight and normal weight controls. Additionally, we tested for linkage and performed family based association studies at four common variants in the 165 families of our initial genome scan.
resultsThe mutation screen revealed 15 DNA variants, four of which were coding non-synonymous exchanges: p.Val82Ala, p.Arg297Gln, p.Gly318Ser and p.Leu385Val. Ten variants were synonymous: c.-9447A > G, c.-584C > G, c.-140C > T, c.-30C > T, IVS2-3C > G, c.812A > G, c.920T > C, IVS7+23C > T, IVS7+73C > T and *22C > T. Additionally, the small biallelic trinucleotide repeat rs3841596 was identified. None of the case control and family based association studies showed an association of investigated variants or haplotypes in the genomic region of DGAT2.
conclusionIn conclusion, our results do not support the hypothesis of an important role of common genetic variation in DGAT2 for the development of obesity in our sample. Anyhow, if there is an influence of genetic variation in DGAT2 on body weight regulation, it might either be conferred by the less common variants (MAF < 0.1) or the detected, rare non-synonymous variants.
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