Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease (original) (raw)

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Acknowledgements

We would like to thank all participating subjects and families. We thank M. Garris, K. Thomas, A. Albano, E. Dabaghyan, K. Fain, W. Glaberson, K. Harden, A. Hill, C. Johnson-Honesty, L. McCleery, K. Lake, R. Bezold, A. Ryan, A. Thomas, A. Latiano and R. Skraban for their expert assistance with DNA processing, genotyping, RNA preparation, DCR3 ELISA, data collection or study management. We thank A. Rutherford and J. Nebel for study coordination. We also thank S. Kristinsson, L. Arni Hermannsson and A. Krisbjörnsson of Raförninn ehf for their extensive software design and informatics contribution. This research was financially supported by US National Institutes of Health grant (K23RR016111), Crohn's & Colitis Foundation of America (CCFA), The Koss foundation, the NIH General Clinical Research Center of the Medical College of Wisconsin (S.K.), NIH grant R01 DK058259, the CCFA (L.D.), the Primary Children's Medical Center Foundation, K23DK069513, M01-RR00064, C06-RR11234 from the National Center for Research Resources (S.L.G.), the Edmunds Fund, the Heineman Foundation, the IBD Family Research Council (R.B.), a Research Development Award from the Cotswold Foundation (H.H. and S.F.A.G.) and a CTSA award, UL1-RR024134-03 (H.H.). Colon microarray experiments were performed and analyzed in the Microarray and Bioinformatics Cores of the NIH-supported Cincinnati Children's Hospital Research Foundation Digestive Health Center (1P30DK078392-01). H. Xu of the Bioinformatics Core assisted with analysis of the microarray experiments. All genotyping and other aspects of the study were funded by an Institute Development Award (H.H., S.F.A.G.) from the Children's Hospital of Philadelphia. We thank the members of the International HapMap and Wellcome Trust Case Control Consortiums for publicly providing valuable data, which were crucial for part of our analyses.

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Author notes

1. Subra Kugathasan and Robert N Baldassano: These authors contributed equally to this work.

Authors and Affiliations

1. Department of Pediatrics, Children's Research Institute and Medical College of Wisconsin, Milwaukee, 53226, Wisconsin, USA
   Subra Kugathasan & Nicholas Peterson
2. Department of Pediatrics, Emory University School of Medicine and Children's Health Care of Atlanta, Atlanta, 30322, Georgia, USA
   Subra Kugathasan
3. Division of Gastroenterology, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
   Robert N Baldassano, Debra J Abrams, Petar Mamula & David A Piccoli
4. Department of Pediatrics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
   Robert N Baldassano, Debra J Abrams, Petar Mamula & David A Piccoli
5. The Center for Applied Genomics, Abramson Research Center, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
   Jonathan P Bradfield, Patrick M A Sleiman, Marcin Imielinski, Cecilia E Kim, Edward C Frackelton, Kiran Annaiah, Joseph T Glessner, Erin Santa, Andrew W Eckert, Julie L Shaner, Ryan M Smith, F George Otieno, Rosetta M Chiavacci, Struan F A Grant & Hakon Hakonarson
6. Department of Pediatrics, University of Utah School of Medicine and Primary Children's Medical Center, Salt Lake City, 84132, Utah, USA
   Stephen L Guthery
7. Pediatric Gastroenterology and Liver Unit, Sapienza University of Rome, Rome, 00185, Italy
   Salvatore Cucchiara
8. Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, 45229, Ohio, USA
   Tara Willson, Erin Bonkowski, Gitit Tomer & Lee A Denson
9. Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, 19104, Pennsylvania, USA
   Robert Grundmeier, Struan F A Grant & Hakon Hakonarson
10. Center for Biomedical Informatics, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
    Robert Grundmeier
11. Divisions of Immunology, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
    Dimitri S Monos
12. Divisions of Pathology, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
    Dimitri S Monos
13. Units of Gastroenterology, IRCCS, “Casa Sollievo della Sofferenza” Hospital, San Giovanni Rotondo, 71013, Italy
    Vito Annese
14. Units of Endoscopy, IRCCS, “Casa Sollievo della Sofferenza” Hospital, San Giovanni Rotondo, 71013, Italy
    Vito Annese
15. Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, 19104, Pennsylvania, USA
    Struan F A Grant & Hakon Hakonarson

Authors

1. Subra Kugathasan
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2. Robert N Baldassano
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3. Jonathan P Bradfield
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4. Patrick M A Sleiman
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5. Marcin Imielinski
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6. Stephen L Guthery
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7. Salvatore Cucchiara
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8. Cecilia E Kim
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9. Edward C Frackelton
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10. Kiran Annaiah
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11. Joseph T Glessner
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12. Erin Santa
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13. Tara Willson
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14. Andrew W Eckert
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15. Erin Bonkowski
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16. Julie L Shaner
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17. Ryan M Smith
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18. F George Otieno
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19. Nicholas Peterson
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20. Debra J Abrams
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21. Rosetta M Chiavacci
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22. Robert Grundmeier
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23. Petar Mamula
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24. Gitit Tomer
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25. David A Piccoli
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26. Dimitri S Monos
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27. Vito Annese
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28. Lee A Denson
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29. Struan F A Grant
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30. Hakon Hakonarson
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Contributions

S.K., R.N.B. and H.H. designed the study and H.H. supervised the genotyping data analysis and interpretation. L.A.D. designed and supervised the microarray and ELISA experiments, data analysis and interpretation. J.P.B., P.M.A.S. and S.F.A.G. conducted the statistical analyses. S.K., R.N.B., S.L.G., S.C., G.T., V.A. and L.A.D recruited the individuals with IBD and performed all phenotyping. C.E.K. and E.C.F. directed the genotyping in a team consisting of J.T.G., J.L.S., R.M.S. and F.G.O. J.P.B., M.I., K.A., J.T.G., A.W.E. and E.S. provided bioinformatics support. The remaining authors coordinated the studies. S.K., R.N.B., S.L.G., L.A.D., S.F.A.G. and H.H. wrote the manuscript.

Corresponding author

Correspondence toHakon Hakonarson.

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Kugathasan, S., Baldassano, R., Bradfield, J. et al. Loci on 20q13 and 21q22 are associated with pediatric-onset inflammatory bowel disease.Nat Genet 40, 1211–1215 (2008). https://doi.org/10.1038/ng.203

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• Received: 27 May 2008
• Accepted: 16 June 2008
• Published: 31 August 2008
• Issue Date: October 2008
• DOI: https://doi.org/10.1038/ng.203