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background ibd are common disorders that cause

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Unformatted text preview: s, within a popula+on. 6 LD mapping Linkage disequilibrium is the non-random association of alleles (SNPs) at different loci (sites). LD mapping uses the association between markers and traits due to LD in a population sample. These associations are caused by the mutational process and are broken down by recombination in the population over time. LD mapping is more efficient for finding genes of small effect (as may underlie most complex diseases) and for localizing the gene of interest. Using the opposing forces of linkage disequilibrium and recombination to find alleles underlying human disease:! Duerr et al. 2006 A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science.! Background" • IBD are common disorders that cause abdominal pain, diarrhea, & gastrointestinal bleeding! • May be due to an inappropriate immune response to ubiquitous commensal intestinal bacteria! • IBD more common among Ashkenazi Jews! • Several genes previously identified as conferring increased risk (e.g. CARD15)! " Methods and Results" • Performed a genome-wide association study with 308,332 SNPs! • Typed in 567 non-Jewish patients with IBD and 571 non-Jewish controls! • After Bonferroni correction for multiple tests, 3 SNPs remain significant! • Two of these SNPs are in CARD15, one is in a newly implicated gene, IL23R! • IL23R association confirmed in a study of 401 patients and 433...
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