DESCRIPTION:

Specifically, we typed the five SNPs representing the alleles and/or haplotypes putatively associated in our screen (Table 2) in an independent set of 343 IBD cases and 207 controls (cohort B). The SNPs were chosen as they were the actual SNPs with putative evidence for association in the screening stage either in a single- or multiple-marker test. Although we tested the exact same SNP or haplotype, none had significant evidence of replication (Table 2)

LABEL:

CelDis. Candidate Genes

SCORE TYPE:

P-Value

THRESHOLD:

<= 0.5

GENES IN THRESHOLD:

4

DATE ADDED:

2010-06-30

DATE UPDATED:

2024-10-22

SPECIES:

AUTHORS:

Tello-Ruiz MK, Curley C, DelMonte T, Giallourakis C, Kirby A, Miller K, Wild G, Cohen A, Langelier D, Latiano A, Wedemeyer N, Lander E, Schreiber S, Annese V, Daly MJ, Rioux JD

TITLE:

Haplotype-based association analysis of 56 functional candidate genes in the IBD6 locus on chromosome 19.

JOURNAL:

European journal of human genetics : EJHG Jun 2006, Vol 14, pp. 780-90

ABSTRACT:

Evidence from four independent linkage studies and two meta-analyses of genome-wide data support the existence of a locus conferring susceptibility to inflammatory bowel diseases (IBD) in chromosomal region 19p. Identification of a susceptibility allele in this approximately 28.5 Mb region with over 600 genes is a formidable task. To tackle this problem, we undertook two approaches: (1) haplotype-based candidate-gene screen, and (2) evaluation of previously reported associations. For the former, we selected genes with potential implication in IBD pathogenesis based on published functional and expression data, typed SNPs, constructed haplotypes, screened for association in 180 IBD trios, and followed up preliminary associations in 343 IBD patients and 207 control individuals. Overall, we analyzed 465 SNPs, and 260 haplotypes distributed across 56 candidate genes. We found suggestive evidence of association (nominal P&lt;0.01) with four genes (C3, FCER2, IL12RB1, and CRLF1) in a screening stage, but were unable to confirm these preliminary observations at follow-up. In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R102G and L314P) and ICAM1 (G241R and K469E) in four independent cohorts totaling 2178 IBD cases. We evaluated these data together with previously published reports for three of these variants (C3-Gly102, ICAM1-Arg241, and ICAM1-Glu469), in a meta-analysis. Our pooled meta-analysis provides compelling evidence against association of these variants with disease. Overall, we performed the most comprehensive candidate-gene association study for IBD to date. The information hereby generated constitutes a valuable resource to investigate other common genetic immune diseases, such as celiac disease. PUBMED: 16570073
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