Determination of the obesity-associated gene variants within the entire FTO gene by ultra-deep targeted sequencing in obese and lean children
| Autor: | Nathalie Bringeland, Mathias Rask-Andersen, Helgi B. Schiöth, C Marcus, Yannis Manios, L A Hedberg, George Moschonis, Adam Ameur, S Juhlin, George P. Chrousos, Janis Klovins, Ulf Gyllensten, Vita Ignatovica, Ineta Kalnina, Robert Fredriksson, M Sällman Almén, Josefin A. Jacobsson |
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| Rok vydání: | 2012 |
| Předmět: |
Male
Adolescent Population level Endocrinology Diabetes and Metabolism Alpha-Ketoglutarate-Dependent Dioxygenase FTO Medicine (miscellaneous) Biology Polymorphism Single Nucleotide FTO gene White People Body Mass Index Gene Frequency Thinness Genetic variation medicine Humans genetics Genetic Predisposition to Disease Obesity Child Gene Allele frequency Genetic association next generation sequencing Genetics Nutrition and Dietetics Genetic Variation High-Throughput Nucleotide Sequencing Proteins nutritional and metabolic diseases Sequence Analysis DNA medicine.disease NGS Body Composition Original Article Female Body mass index |
| Zdroj: | International Journal of Obesity (2005) |
| ISSN: | 1476-5497 0307-0565 |
| Popis: | Background: The Fat mass and obesity-associated gene (FTO) was the first gene reliably associated with body mass index in genome-wide association studies on a population level. At present, the genetic variations within the FTO gene are still the common variants that have the largest influence on body mass index. Methods: In the current study, we amplified the entire FTO gene, in total 412 Kbp, in over 200 long-range PCR fragments from each individual, from 524 severely obese and 527 lean Swedish children, and sequenced the products as two DNA pools using massive parallel sequencing (SOLiD). Results: The sequencing achieved very high coverage (median 18 000 reads) and we detected and estimated allele frequencies for 705 single nucleotide polymorphisms (SNPs) (19 novel) and 40 indels (24 novel) using a sophisticated statistical approach to remove false-positive SNPs. We identified 19 obesity-associated SNPs within intron one of the FTO gene, and validated our findings with genotyping. Ten of the validated obesity-associated SNPs have a stronger obesity association (P |
| Databáze: | OpenAIRE |
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