Genomes and Genes
Struan F A Grant
Affiliation: deCODE Genetics
- Linkage of osteoporosis to chromosome 20p12 and association to BMP2Unnur Styrkarsdottir
deCODE Genetics, Reykjavik, Iceland
PLoS Biol 1:E69. 2003....
- Association analysis of the FTO gene with obesity in children of Caucasian and African ancestry reveals a common tagging SNPStruan F A Grant
Center for Applied Genomics, Abramson Research Center, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America
PLoS ONE 3:e1746. 2008..As such, variants in the FTO gene confer a similar magnitude of risk of obesity to children as to their adult counterparts and appear to have a global impact...
- Variant of transcription factor 7-like 2 (TCF7L2) gene confers risk of type 2 diabetesStruan F A Grant
deCODE Genetics, Sturlugata 8, 101 Reykjavik, Iceland
Nat Genet 38:320-3. 2006..It is thought to act through regulation of proglucagon gene expression in enteroendocrine cells via the Wnt signaling pathway...
- Refining the impact of TCF7L2 gene variants on type 2 diabetes and adaptive evolutionAgnar Helgason
deCODE Genetics, 101 Reykjavik, Iceland
Nat Genet 39:218-25. 2007....
- A variant of the gene encoding leukotriene A4 hydrolase confers ethnicity-specific risk of myocardial infarctionAnna Helgadottir
deCODE Genetics, Inc, Sturlugata 8, IS 101 Reykjavik, Iceland
Nat Genet 38:68-74. 2006..Interactions with other genetic or environmental risk factors that are more common in African Americans are likely to account for the greater relative risk conferred by HapK in this group...
- Localization of a susceptibility gene for type 2 diabetes to chromosome 5q34-q35.2Inga Reynisdottir
deCODE Genetics, Reykjavik, Iceland
Am J Hum Genet 73:323-35. 2003..Finally, we observed potential interactions between the 5q locus and two T2D susceptibility loci, previously mapped in other populations...
- The gene encoding 5-lipoxygenase activating protein confers risk of myocardial infarction and strokeAnna Helgadottir
deCODE Genetics, Sturlugata 8, Reykjavik, Iceland
Nat Genet 36:233-9. 2004..We conclude that variants of ALOX5AP are involved in the pathogenesis of both myocardial infarction and stroke by increasing leukotriene production and inflammation in the arterial wall...
- Classification of genetic profiles of Crohn's disease: a focus on the ATG16L1 geneStruan F A Grant
The Center for Applied Genomics and Division of Human Genetics, The Abramson Research Center of the Joseph Stokes Jr Research Institute, Department of Pediatrics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
Expert Rev Mol Diagn 8:199-207. 2008....
- Association analysis of type 2 diabetes Loci in type 1 diabetesHui Qi Qu
Departments of Pediatrics and Human Genetics, McGill University, Montreal, Quebec, Canada
Diabetes 57:1983-6. 2008..To search for a possible association of type 1 diabetes with 10 validated type 2 diabetes loci, i.e., PPARG, KCNJ11, WFS1, HNF1B, IDE/HHEX, SLC30A8, CDKAL1, CDKN2A/B, IGF2BP2, and FTO/RPGRIP1L...
- Chromosome 6p22 locus associated with clinically aggressive neuroblastomaJohn M Maris
Division of Oncology and the Center for Childhood Cancer Research, Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
N Engl J Med 358:2585-93. 2008..Neuroblastoma is a malignant condition of the developing sympathetic nervous system that most commonly affects young children and is often lethal. Its cause is not known...
- Association of the TRAF1-C5 locus on chromosome 9 with juvenile idiopathic arthritisEdward M Behrens
The Children's Hospital of Philadelphia, Philadelphia, PA, USA
Arthritis Rheum 58:2206-7. 2008
- Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel diseaseSubra Kugathasan
Department of Pediatrics, Children s Research Institute and Medical College of Wisconsin, Milwaukee, Wisconsin 53226, USA
Nat Genet 40:1211-5. 2008..30 x 10(-8) and 6.95 x 10(-8), respectively; odds ratio (OR) = 0.74 for both) and 21q22 (rs2836878[A]; P = 6.01 x 10(-8); OR = 0.73), located close to the TNFRSF6B and PSMG1 genes, respectively...
- A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association studyHakon Hakonarson
Center for Applied Genomics, Abramson Research Center, The Children s Hospital of Philadelphia, PA 19104 4318, USA
Diabetes 57:1143-6. 2008..03 x 10(-10)) and confirmed in two additional cohorts. Here we describe the results of testing, in these additional cohorts, 23 loci that were next in rank of statistical significance...
- A genome-wide association study identifies KIAA0350 as a type 1 diabetes geneHakon Hakonarson
Center for Applied Genomics, Abramson Research Center, The Children s Hospital of Philadelphia, Philadelphia, Pennsylvania 19104, USA
Nature 448:591-4. 2007..These results indicate that KIAA0350 might be involved in the pathogenesis of T1D and demonstrate the utility of the genome-wide association approach in the identification of previously unsuspected genetic determinants of complex traits...
- Association of the T300A non-synonymous variant of the ATG16L1 gene with susceptibility to paediatric Crohn's diseaseRobert N Baldassano
Gut 56:1171-3. 2007
- Association of variants of the interleukin-23 receptor gene with susceptibility to pediatric Crohn's diseaseRobert N Baldassano
Division of Gastroenterology and Nutrition, Abramson Research Center, University of Pennsylvania, School of Medicine, Philadelphia, Pennsylvania, USA
Clin Gastroenterol Hepatol 5:972-6. 2007..We examined the effects of this and other previously reported SNPs at this locus with respect to CD in children...
- PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping dataKai Wang
Department of Genetics, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
Genome Res 17:1665-74. 2007..3%. Our results demonstrate the feasibility of whole-genome fine-mapping of CNVs via high-density SNP genotyping...
- Recent development in pharmacogenomics: from candidate genes to genome-wide association studiesStruan F A Grant
Center for Applied Genomics, The Children s Hospital of Philadelphia, PA 19104 4318, USA
Expert Rev Mol Diagn 7:371-93. 2007....
- Microarray technology and applications in the arena of genome-wide associationStruan F A Grant
The Center for Applied Genomics and Division of Human Genetics, The Abramson Research Center of the Joseph Stokes Jr Research Institute, The Children s Hospital of Philadelphia, Philadelphia, PA 19104 4318, USA
Clin Chem 54:1116-24. 2008..This has enabled large-scale genome-wide association (GWA) studies in complex diseases, such as diabetes, asthma, and inflammatory bowel disease, to be undertaken for the first time...
- SNP genotyping on a genome-wide amplified DOP-PCR templateStruan F A Grant
LION bioscience AG, Im Neuenheimer Feld 515-517, 69120 Heidelberg, Germany
Nucleic Acids Res 30:e125. 2002..Adding carrier DNA to a final concentration of 10 ng/microl improved results. In conclusion, we have successfully used DOP-PCR to amplify our genomic DNA collection for subsequent SNP genotyping as a standard process...