Background and aims: Genome wide association studies in celiac disease (CD) showed eight new genetic regions associated with disease susceptibility. However, a replication study performed in the Italian population could not confirm two of those new regions: 2q12 (IL18RAP) and 3p21 (CCR3). We aimed to study the role of those regions in CD risk in a different Mediterranean population, the Spanish one.
Methods: A case-control study with 722 CD patients and 794 ethnically matched healthy controls was performed. Two single nucleotide polymorphisms, rs917997 (2q12) and rs6441961 (3p21), were genotyped and their genetic frequencies were compared between both groups with the chi-square test.
Results: Association was found with rs6441961: p=0.0004, OR=1.32 95% CI 1.13-1.54. A non-significant (but concordant with the initial study) result was obtained when studying rs917997.
Conclusion: We confirmed the association of the 3p21 genetic region with CD susceptibility in the Spanish population. In 2q12, the initially described OR is most probably overestimated, and therefore the real situation may be the existence of a genuine but weak risk factor, which generates statistical power limitations.