rs112861203 - EEF1GP2 - SPINK5

Magnitude 4.5 · 1 study on file

Reported associations

• Colocalization analysis of pancreas eQTLs with risk loci from alcoholic and novel non-alcoholic chronic pancreatitis GWAS suggests potential disease causing mechanisms. - Pancreatology : official journal of the International Association of Pancreatology (IAP) ... [et al.] (2022) · Schmidt AW, Kühnapfel A, Kirsten H, Grallert H, Hellerbrand C, Kiefer F, Mann K, Mueller S, Nöthen MM, Peters A, Ridinger M, Frank J, Rietschel M, Soranzo N, Soyka M, Wodarz N, Malerba G, Gambaro G, Gieger C, Scholz M, Krug S, Michl P, Ewers M, Witt H, Laumen H, Rosendahl J · PubMed 35331647

  Previous genome-wide association studies (GWAS) identified genome-wide significant risk loci in chronic pancreatitis and investigated underlying disease causing mechanisms by simple overlaps with expression quantitative trait loci (eQTLs), a procedure which may often result in false positive conclusions. We conducted a GWAS in 584 non-alcoholic chronic pancreatitis (NACP) patients and 6040 healthy controls. Next, we applied Bayesian colocalization analysis of identified genome-wide significant risk loci from both, our recently published alcoholic chronic pancreatitis (ACP) and the novel NACP dataset, with pancreas eQTLs from the GTEx V8 European cohort to prioritize candidate causal genes and extracted credible sets of shared causal variants. Variants at the CTRC (p = 1.22 × 10 ) and

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