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Chunk #25 — Results — Stimulus-Specific eQTL, CARD9, and Crohn’s Disease Risk

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Innate immune activity conditions the effect of regulatory variants upon monocyte gene expression.
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analysis demonstrated that the induced CARD9 peak eQTL was further associated with an independent signal of protection for CD [rs11145766 shows independent association with reduced risk of CD, P = 3.7 × 10−9 GWAS OR 0.73 (0.63 to 0.84)] (Fig. 6, C and D). These effects were independent of reported associations that involved rare variants of CARD9 (47). Both risk alleles were associated with reduced CARD9 expression, consistent with the key role of CARD9 as an adaptor protein coordinating innate and adaptive immune responses and mounting an appropriate IFNγ gut response to pathogens (48).