ArticleGenes and immunity2006
Sequence variation, linkage disequilibrium and association with Crohn's disease on chromosome 5q31.
Article in Genes and immunity, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
13 citing papers in PubMed, 26 citations in OpenAlex.
- Replication of genetic loci for sarcoidosis in US black women: data from the Black Women's Health Study.Human genetics · 2013Trial
- The relationship between extreme inter-individual variation in macrophage gene expression and genetic susceptibility to inflammatory bowel disease.Human genetics · 2024Article
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- Crohn's disease and genetic hitchhiking at IBD5.Molecular biology and evolution · 2012Article
- Cytokine regulation of OCTN2 expression and activity in small and large intestine.Inflammatory bowel diseases · 2011Article
- A genome-wide admixture scan for ancestry-linked genes predisposing to sarcoidosis in African-Americans.Genes and immunity · 2011Article
- Association analysis of susceptibility candidate region on chromosome 5q31 for tuberculosis.Genes and immunity · 2010Article
- The interaction index, a novel information-theoretic metric for prioritizing interacting genetic variations and environmental factors.European journal of human genetics : EJHG · 2009Article
- Searching for genotype-phenotype structure: using hierarchical log-linear models in Crohn disease.American journal of human genetics · 2009Article
- New insights into the pathogenesis and genetics of psoriatic arthritis.Nature clinical practice. Rheumatology · 2009Review
- Article
- Information-theoretic metrics for visualizing gene-environment interactions.American journal of human genetics · 2007Article
Corrections and comments
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Authors and funding
9 authors at 4 institutions in 1 country.
Funding
Abstract
Chromosome 5q31 contains a cluster of genes involved in immune response, including a 250 kb risk haplotype associated with Crohn's disease (CD) susceptibility. Recently, two functional variants in SLC22A4 and SLC22A5 (L503F and G-207C), encoding the cation transporters OCTN1 and OCTN2, were proposed as causal variants for CD, but with conflicting genetic evidence regarding their contribution. We investigated this locus by resequencing the coding regions of 10 genes in 24 CD cases and deriving a linkage disequilibrium (LD) map of the 27 single nucleotide polymorphisms (SNPs) detected. Ten SNPs representative of the LD groups observed, were tested for CD association. L503F in SLC22A4 was the only nonsynonymous SNP significantly associated with CD (P=0.003), but was not associated with disease in the absence of other markers of the 250 kb risk haplotype. Two other SNPs, rs11242115 in IRF1 and rs17166050 in RAD50, lying outside the 250 kb risk haplotype, also showed CD association (P=0.019 and P=0.0080, respectively). The RAD50 gene contains a locus control region regulating expression of the Th2 cytokine genes at this locus. Other as yet undiscovered SNPs in this region may therefore modulate gene expression and contribute to the risk of CD, and perhaps of other inflammatory phenotypes.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.