Association of DLG5 R30Q variant with inflammatory bowel disease.

Mj Daly; A V Pearce; L Farwell; S A Fisher; A Latiano; N J Prescott; A Forbes; J Mansfield; J Sanderson; D Langelier; A Cohen; A Bitton; G Wild; C M Lewis; V Annese; C G Mathew; J D Rioux

doi:10.1038/sj.ejhg.5201403

Association of DLG5 R30Q variant with inflammatory bowel disease.

Mj Daly, A V Pearce, L Farwell, S A Fisher, A Latiano, N J Prescott, A Forbes, J Mansfield, J Sanderson, D Langelier, A Cohen, A Bitton, G Wild, C M Lewis, V Annese, C G Mathew, J D Rioux

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Abstract

Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect

Original language	English
Pages (from-to)	835 - 839
Number of pages	5
Journal	European Journal of Human Genetics
Volume	13
Issue number	7
DOIs	https://doi.org/10.1038/sj.ejhg.5201403
Publication status	Published - Jul 2005

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Daly, M., Pearce, A. V., Farwell, L., Fisher, S. A., Latiano, A., Prescott, N. J., Forbes, A., Mansfield, J., Sanderson, J., Langelier, D., Cohen, A., Bitton, A., Wild, G., Lewis, C. M., Annese, V., Mathew, C. G., & Rioux, J. D. (2005). Association of DLG5 R30Q variant with inflammatory bowel disease. European Journal of Human Genetics, 13(7), 835 - 839. https://doi.org/10.1038/sj.ejhg.5201403

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title = "Association of DLG5 R30Q variant with inflammatory bowel disease.",

abstract = "Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect",

author = "Mj Daly and Pearce, {A V} and L Farwell and Fisher, {S A} and A Latiano and Prescott, {N J} and A Forbes and J Mansfield and J Sanderson and D Langelier and A Cohen and A Bitton and G Wild and Lewis, {C M} and V Annese and Mathew, {C G} and Rioux, {J D}",

year = "2005",

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doi = "10.1038/sj.ejhg.5201403",

language = "English",

volume = "13",

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journal = "European Journal of Human Genetics",

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Daly, M, Pearce, AV, Farwell, L, Fisher, SA, Latiano, A, Prescott, NJ, Forbes, A, Mansfield, J, Sanderson, J, Langelier, D, Cohen, A, Bitton, A, Wild, G, Lewis, CM, Annese, V, Mathew, CG & Rioux, JD 2005, 'Association of DLG5 R30Q variant with inflammatory bowel disease.', European Journal of Human Genetics, vol. 13, no. 7, pp. 835 - 839. https://doi.org/10.1038/sj.ejhg.5201403

TY - JOUR

T1 - Association of DLG5 R30Q variant with inflammatory bowel disease.

AU - Daly, Mj

AU - Pearce, A V

AU - Farwell, L

AU - Fisher, S A

AU - Latiano, A

AU - Prescott, N J

AU - Forbes, A

AU - Mansfield, J

AU - Sanderson, J

AU - Langelier, D

AU - Cohen, A

AU - Bitton, A

AU - Wild, G

AU - Lewis, C M

AU - Annese, V

AU - Mathew, C G

AU - Rioux, J D

PY - 2005/7

Y1 - 2005/7

N2 - Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect

AB - Crohn's disease (CD) and ulcerative colitis (UC) are chronic inflammatory diseases of the gastrointestinal system known as the inflammatory bowel diseases (IBD). Recently, Stoll and colleagues reported a novel finding of genetic variation in the DLG5 gene that is associated with IBD (CD and UC combined). We present here a study of the genetic variation described in that report in two well-powered, independent case-control cohorts and one family-based collection, and confirm the proposed association between IBD and the R30Q variant of DLG5 in two of the three studies. We are, however, unable to replicate the other proposed association to the common haplotype described in Stoll et al and suggest that this other finding could conceivably have been partially a statistical fluctuation and partially a result of LD with the replicated R30Q association. This study provides support for the hypothesis that DLG5 constitutes a true IBD risk factor of modest effect

U2 - 10.1038/sj.ejhg.5201403

DO - 10.1038/sj.ejhg.5201403

M3 - Article

VL - 13

SP - 835

EP - 839

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 7

ER -

Association of DLG5 R30Q variant with inflammatory bowel disease.

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