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Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease

Yukihide Momozawa, Myriam Mni, Kayo Nakamura, Wouter Coppieters, Sven Almer, Leila Amininejad, Isabelle Cleynen, Jean-Frederic Colombel, Peter de Rijk and Olivier Dewit, et al. (2011) NATURE GENETICS. 43(1). p.43-U58
abstract
Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease(1,2). However, common disease-associated SNPs explain at most similar to 20% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability(3-5), including rare risk variants not adequately tagged thus far in GWAS(6-8). That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer(9), plasma high-density lipoprotein cholesterol levels(10), blood pressure(11), type 1 diabetes(12), hypertriglyceridemia(13) and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.
Please use this url to cite or link to this publication:
author
organization
year
type
journalArticle (original)
publication status
published
subject
keyword
GENOME-WIDE ASSOCIATION, RARE VARIANTS, COMPLEX DISEASES, CROHNS-DISEASE, SUSCEPTIBILITY, GENES, HERITABILITY, CONTRIBUTE, COMMON, SNPS
journal title
NATURE GENETICS
Nature Genet.
volume
43
issue
1
pages
43 - U58
Web of Science type
Article
Web of Science id
000285683500013
JCR category
GENETICS & HEREDITY
JCR impact factor
35.532 (2011)
JCR rank
2/155 (2011)
JCR quartile
1 (2011)
ISSN
1061-4036
DOI
10.1038/ng.733
language
English
UGent publication?
yes
classification
A1
copyright statement
I have transferred the copyright for this publication to the publisher
id
1145381
handle
http://hdl.handle.net/1854/LU-1145381
date created
2011-02-10 15:18:17
date last changed
2011-07-01 00:30:32
@article{1145381,
  abstract     = {Genome-wide association studies (GWAS) have identified dozens of risk loci for many complex disorders, including Crohn's disease(1,2). However, common disease-associated SNPs explain at most similar to 20\% of the genetic variance for Crohn's disease. Several factors may account for this unexplained heritability(3-5), including rare risk variants not adequately tagged thus far in GWAS(6-8). That rare susceptibility variants indeed contribute to variation in multifactorial phenotypes has been demonstrated for colorectal cancer(9), plasma high-density lipoprotein cholesterol levels(10), blood pressure(11), type 1 diabetes(12), hypertriglyceridemia(13) and, in the case of Crohn's disease, for NOD2 (refs. 14,15). Here we describe the use of high-throughput resequencing of DNA pools to search for rare coding variants influencing susceptibility to Crohn's disease in 63 GWAS-identified positional candidate genes. We identify low frequency coding variants conferring protection against inflammatory bowel disease in IL23R, but we conclude that rare coding variants in positional candidates do not make a large contribution to inherited predisposition to Crohn's disease.},
  author       = {Momozawa, Yukihide and Mni, Myriam and Nakamura, Kayo and Coppieters, Wouter and Almer, Sven and Amininejad, Leila and Cleynen, Isabelle and Colombel, Jean-Frederic and de Rijk, Peter and Dewit, Olivier and Finkel, Yigael and Gassull, Miquel A and Goossens, Dirk and Laukens, Debby and Lemann, Marc and Libioulle, Cecile and O'Morain, Colm and Reenaers, Catherine and Rutgeerts, Paul and Tysk, Curt and Zelenika, Diana and Lathrop, Mark and Del-Favero, Jurgen and Hugot, Jean-Pierre and DE VOS, MARTINE and Franchimont, Denis and Vermeire, Severine and Louis, Edouard and Georges, Michel},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  keyword      = {GENOME-WIDE ASSOCIATION,RARE VARIANTS,COMPLEX DISEASES,CROHNS-DISEASE,SUSCEPTIBILITY,GENES,HERITABILITY,CONTRIBUTE,COMMON,SNPS},
  language     = {eng},
  number       = {1},
  pages        = {43--U58},
  title        = {Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease},
  url          = {http://dx.doi.org/10.1038/ng.733},
  volume       = {43},
  year         = {2011},
}

Chicago
Momozawa, Yukihide, Myriam Mni, Kayo Nakamura, Wouter Coppieters, Sven Almer, Leila Amininejad, Isabelle Cleynen, et al. 2011. “Resequencing of Positional Candidates Identifies Low Frequency IL23R Coding Variants Protecting Against Inflammatory Bowel Disease.” Nature Genetics 43 (1): 43–U58.
APA
Momozawa, Y., Mni, M., Nakamura, K., Coppieters, W., Almer, S., Amininejad, L., Cleynen, I., et al. (2011). Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. NATURE GENETICS, 43(1), 43–U58.
Vancouver
1.
Momozawa Y, Mni M, Nakamura K, Coppieters W, Almer S, Amininejad L, et al. Resequencing of positional candidates identifies low frequency IL23R coding variants protecting against inflammatory bowel disease. NATURE GENETICS. 2011;43(1):43–U58.
MLA
Momozawa, Yukihide, Myriam Mni, Kayo Nakamura, et al. “Resequencing of Positional Candidates Identifies Low Frequency IL23R Coding Variants Protecting Against Inflammatory Bowel Disease.” NATURE GENETICS 43.1 (2011): 43–U58. Print.