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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
by
Lengauer, Thomas
, Fölsch, Ulrich R
, Sipos, Bence
, Prescott, Natalie J
, Hampe, Jochen
, Franke, Andre
, Till, Andreas
, Krawczak, Michael
, Mathew, Christopher G
, Albrecht, Mario
, Günther, Simone
, Huse, Klaus
, Onnie, Clive M
, Schreiber, Stefan
, Rosenstiel, Philip
, De La Vega, Francisco M
, Briggs, Jason
, Mayr, Gabriele
, Häsler, Robert
, Platzer, Matthias
, Teuber, Markus
in
Agriculture
/ Analysis
/ Animal Genetics and Genomics
/ Autophagy-Related Proteins
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Biomedicine
/ Cancer Research
/ Carrier Proteins - genetics
/ Crohn Disease - genetics
/ Crohn's disease
/ Disease susceptibility
/ Fundamental and applied biological sciences. Psychology
/ Gastroenterology. Liver. Pancreas. Abdomen
/ Gene Function
/ Genetic markers
/ Genetic Predisposition to Disease
/ Genetic research
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Genomics
/ Health risks
/ Human Genetics
/ Humans
/ letter
/ Medical sciences
/ Models, Molecular
/ Molecular Sequence Data
/ Nod2 Signaling Adaptor Protein - genetics
/ Other diseases. Semiology
/ Polymorphism, Single Nucleotide
/ Proteins
/ Regression analysis
/ Risk factors
/ Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
2007
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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
by
Lengauer, Thomas
, Fölsch, Ulrich R
, Sipos, Bence
, Prescott, Natalie J
, Hampe, Jochen
, Franke, Andre
, Till, Andreas
, Krawczak, Michael
, Mathew, Christopher G
, Albrecht, Mario
, Günther, Simone
, Huse, Klaus
, Onnie, Clive M
, Schreiber, Stefan
, Rosenstiel, Philip
, De La Vega, Francisco M
, Briggs, Jason
, Mayr, Gabriele
, Häsler, Robert
, Platzer, Matthias
, Teuber, Markus
in
Agriculture
/ Analysis
/ Animal Genetics and Genomics
/ Autophagy-Related Proteins
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Biomedicine
/ Cancer Research
/ Carrier Proteins - genetics
/ Crohn Disease - genetics
/ Crohn's disease
/ Disease susceptibility
/ Fundamental and applied biological sciences. Psychology
/ Gastroenterology. Liver. Pancreas. Abdomen
/ Gene Function
/ Genetic markers
/ Genetic Predisposition to Disease
/ Genetic research
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Genomics
/ Health risks
/ Human Genetics
/ Humans
/ letter
/ Medical sciences
/ Models, Molecular
/ Molecular Sequence Data
/ Nod2 Signaling Adaptor Protein - genetics
/ Other diseases. Semiology
/ Polymorphism, Single Nucleotide
/ Proteins
/ Regression analysis
/ Risk factors
/ Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
2007
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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
by
Lengauer, Thomas
, Fölsch, Ulrich R
, Sipos, Bence
, Prescott, Natalie J
, Hampe, Jochen
, Franke, Andre
, Till, Andreas
, Krawczak, Michael
, Mathew, Christopher G
, Albrecht, Mario
, Günther, Simone
, Huse, Klaus
, Onnie, Clive M
, Schreiber, Stefan
, Rosenstiel, Philip
, De La Vega, Francisco M
, Briggs, Jason
, Mayr, Gabriele
, Häsler, Robert
, Platzer, Matthias
, Teuber, Markus
in
Agriculture
/ Analysis
/ Animal Genetics and Genomics
/ Autophagy-Related Proteins
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Biomedicine
/ Cancer Research
/ Carrier Proteins - genetics
/ Crohn Disease - genetics
/ Crohn's disease
/ Disease susceptibility
/ Fundamental and applied biological sciences. Psychology
/ Gastroenterology. Liver. Pancreas. Abdomen
/ Gene Function
/ Genetic markers
/ Genetic Predisposition to Disease
/ Genetic research
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Genomics
/ Health risks
/ Human Genetics
/ Humans
/ letter
/ Medical sciences
/ Models, Molecular
/ Molecular Sequence Data
/ Nod2 Signaling Adaptor Protein - genetics
/ Other diseases. Semiology
/ Polymorphism, Single Nucleotide
/ Proteins
/ Regression analysis
/ Risk factors
/ Stomach. Duodenum. Small intestine. Colon. Rectum. Anus
2007
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A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
Journal Article
A genome-wide association scan of nonsynonymous SNPs identifies a susceptibility variant for Crohn disease in ATG16L1
2007
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Overview
We performed a genome-wide association study of 19,779 nonsynonymous SNPs in 735 individuals with Crohn disease and 368 controls. A total of 7,159 of these SNPs were informative. We followed up on all 72 SNPs with
P
≤ 0.01 with an allele-based disease association test in 380 independent Crohn disease trios, 498 Crohn disease singleton cases and 1,032 controls. Disease association of rs2241880 in the autophagy-related 16-like 1 gene (
ATG16L1
) was replicated in these samples (
P
= 4.0 × 10
−8
) and confirmed in a UK case-control sample (
P
= 0.0004). By haplotype and regression analysis, we found that marker rs2241880, a coding SNP (T300A), carries virtually all the disease risk exerted by the
ATG16L1
locus. The
ATG16L1
gene encodes a protein in the autophagosome pathway that processes intracellular bacteria. We found a statistically significant interaction with respect to Crohn disease risk between rs2241880 and the established
CARD15
susceptibility variants (
P
= 0.039). Together with the lack of association between rs2241880 and ulcerative colitis (
P
> 0.4), these data suggest that the underlying biological process may be specific to Crohn disease.
Publisher
Nature Publishing Group US,Nature Publishing Group
Subject
/ Analysis
/ Animal Genetics and Genomics
/ Biological and medical sciences
/ Biomedical and Life Sciences
/ Fundamental and applied biological sciences. Psychology
/ Gastroenterology. Liver. Pancreas. Abdomen
/ Genetic Predisposition to Disease
/ Genetics of eukaryotes. Biological and molecular evolution
/ Genomes
/ Genomics
/ Humans
/ letter
/ Nod2 Signaling Adaptor Protein - genetics
/ Polymorphism, Single Nucleotide
/ Proteins
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