Background and aims: Genome-wide association studies in coeliac disease (CD) have resulted in the finding of 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). The aim of this study was to investigate the role of those regions in CD risk in a different Mediterranean population, the Spanish population.
Methods: A case–control study with 722 patients with CD 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 using the χ2 test.
Results: An association was found with rs6441961 (p = 0.0004, OR = 1.32, 95% CI 1.13 to 1.54). A non-significant result (but concordant with the initial study) was obtained for rs917997.
Conclusion: The association of the 3p21 genetic region with CD susceptibility in the Spanish population was confirmed. 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.
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Funding This work was supported by project CP08/0213 from Fondo de Investigaciones Sanitarias. BD receives a grant from Fundación Mutua Madrileña. CN and AM have an FIS contract (CP08/0213 and CP04/00175, respectively) and EU works for the Fundación para la Investigación Biomédica-Hospital Clínico San Carlos.
Competing interests None.
Ethics approval The ethics committee of the Hospital Clinico San Carlos approved the study.
Provenance and Peer review Not commissioned; externally peer reviewed.