2004
DOI: 10.1038/sj.gene.6364111
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NOD2/CARD15, TLR4 and CD14 mutations in Scottish and Irish Crohn's disease patients: evidence for genetic heterogeneity within Europe?

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Cited by 183 publications
(162 citation statements)
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“…19 In case-control analysis in Scottish adults and children there was significantly higher mutant allele frequency in CD patients of both 1007-/C and 908G/R but no significant difference in 702R/W frequency between cases and controls. 10,19 This study has further confirmed that there are unlikely to be other NOD2/CARD15 SNPs apart from these two (1007-/C and 908G/R) that significantly contribute to disease susceptibility in our population.…”
Section: Regression Analysis Of CD Susceptibility Genes In Scottish Csupporting
confidence: 80%
See 1 more Smart Citation
“…19 In case-control analysis in Scottish adults and children there was significantly higher mutant allele frequency in CD patients of both 1007-/C and 908G/R but no significant difference in 702R/W frequency between cases and controls. 10,19 This study has further confirmed that there are unlikely to be other NOD2/CARD15 SNPs apart from these two (1007-/C and 908G/R) that significantly contribute to disease susceptibility in our population.…”
Section: Regression Analysis Of CD Susceptibility Genes In Scottish Csupporting
confidence: 80%
“…This is an important finding given the relatively small contribution of the three common NOD2/CARD15 mutations in the Scottish population that has been demonstrated both in children, 19 and adults with CD. 10 Indeed, it would seem on detailed analysis of the SNPs within the candidate genes studied thus far in the Scottish early-onset population that the only significant contribution to disease susceptibility comes from the NOD2/CARD15 1007-/C mutation. In support of this finding, meta-analysis data from two separate studies demonstrate that the 1007-/C mutation made the most significant contribution to increased disease susceptibility.…”
Section: Regression Analysis Of CD Susceptibility Genes In Scottish Cmentioning
confidence: 99%
“…However, regional founder effects may underlie differences even within European populations, as has been suggested for NOD2 and DLG5 (24,25). Furthermore, allele frequencies of NOD2 risk alleles have been reported to vary significantly between European populations (26).…”
Section: Discussionmentioning
confidence: 98%
“…24,25 In the first part of our study, we have therefore performed a replication study of these two alleles (NFKB1 94delATTG and TLR4 299Gly ) and extended the analysis to include all published data on these alleles, as individual replication studies have provided inconsistent results. [26][27][28][29][30][31][32][33][34][35] Combining the results in this fashion provides the necessary statistical power to evaluate genetic risk factors of modest effect, such as those observed for multigenic diseases. 36 In the second part of the study, we screened all 23 genes for association with susceptibility to IBD.…”
Section: Introductionmentioning
confidence: 99%