Genetic Analysis in A Dutch Study Sample Identifies More Ulcerative Colitis Susceptibility Loci and Shows Their Additive Role in Disease ... View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2009-10-27

AUTHORS

Eleonora AM Festen, Pieter CF Stokkers, Cleo C van Diemen, Adriaan A van Bodegraven, H Marieke Boezen, Bart JA Crusius, Daniel W Hommes, Janneke C van der Woude, Tobias Balschun, Hein W Verspaget, Stephan Schreiber, Dirk J de Jong, Andre Franke, Gerard Dijkstra, Cisca Wijmenga, Rinse K Weersma

ABSTRACT

OBJECTIVES: Genetic susceptibility is known to make a major contribution to the pathogenesis of ulcerative colitis (UC). Recently, three studies, including a genome-wide association study (GWAS), reported novel UC risk loci. METHODS: The top-20 single-nucleotide polymorphisms (SNPs) from the first UC-GWAS were genotyped, as part of the study's replication phase, in 561 UC cases and 728 controls from our Dutch UC study sample. We genotyped eight SNPs identified in two more studies, in these individuals, and replicated all significantly associated SNPs in an additional 894 UC cases and 1,174 controls from our Dutch UC study sample. A combined analysis for all patients (n=1,455) and controls (n=1,902) was performed. Dose-response models were constructed with the associated risk alleles. RESULTS: We found 12 SNPs tagging ten loci, including HLA-DRA, IL10, IL23R, JAK2, S100Z, ARPC2, and ECM1, to be associated with UC. We identified 10q26, flagged by the UC-GWAS but not confirmed in its replication phase, as a UC locus and found a trend toward association for GAS7. No association with disease localization or severity was found. The dose-response models show that individuals carrying 11 or more risk alleles have an odds ratio of 8.2 (confidence interval 3.0-22.8) for UC susceptibility. CONCLUSIONS: We confirmed the association of multiple loci with UC in the Dutch population and found evidence for association of 10q26 and a trend suggesting association for GAS7. Genetic models show that multiple risk loci in an individual increase the risk for developing UC. More... »

PAGES

395

Journal

TITLE

The American Journal of Gastroenterology

ISSUE

2

VOLUME

105

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ajg.2009.576

DOI

http://dx.doi.org/10.1038/ajg.2009.576

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1041193887

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/19861958


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31 schema:description OBJECTIVES: Genetic susceptibility is known to make a major contribution to the pathogenesis of ulcerative colitis (UC). Recently, three studies, including a genome-wide association study (GWAS), reported novel UC risk loci. METHODS: The top-20 single-nucleotide polymorphisms (SNPs) from the first UC-GWAS were genotyped, as part of the study's replication phase, in 561 UC cases and 728 controls from our Dutch UC study sample. We genotyped eight SNPs identified in two more studies, in these individuals, and replicated all significantly associated SNPs in an additional 894 UC cases and 1,174 controls from our Dutch UC study sample. A combined analysis for all patients (n=1,455) and controls (n=1,902) was performed. Dose-response models were constructed with the associated risk alleles. RESULTS: We found 12 SNPs tagging ten loci, including HLA-DRA, IL10, IL23R, JAK2, S100Z, ARPC2, and ECM1, to be associated with UC. We identified 10q26, flagged by the UC-GWAS but not confirmed in its replication phase, as a UC locus and found a trend toward association for GAS7. No association with disease localization or severity was found. The dose-response models show that individuals carrying 11 or more risk alleles have an odds ratio of 8.2 (confidence interval 3.0-22.8) for UC susceptibility. CONCLUSIONS: We confirmed the association of multiple loci with UC in the Dutch population and found evidence for association of 10q26 and a trend suggesting association for GAS7. Genetic models show that multiple risk loci in an individual increase the risk for developing UC.
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38 Dutch population
39 ECM1
40 Gas7
41 HLA-DRA
42 IL10
43 JAK2
44 S100Z
45 UC cases
46 UC loci
47 UC susceptibility
48 additive role
49 alleles
50 analysis
51 association
52 association studies
53 cases
54 colitis
55 combined analysis
56 contribution
57 control
58 disease localization
59 disease risk
60 dose-response model
61 evidence
62 genetic analysis
63 genetic models
64 genetic susceptibility
65 genome-wide association studies
66 increase
67 individual increases
68 individuals
69 localization
70 loci
71 major contribution
72 model
73 more risk alleles
74 more studies
75 multiple loci
76 multiple risk loci
77 odds ratio
78 part
79 pathogenesis
80 patients
81 phase
82 polymorphism
83 population
84 ratio
85 replication phase
86 risk
87 risk alleles
88 risk loci
89 role
90 samples
91 severity
92 single nucleotide polymorphisms
93 study
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95 susceptibility
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97 trends
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