Al-Aama et al. (2017) investigated the underlying genetic defect in a consanguineous Saudi family affected by Celiac Disease (CD). The 21-year-old female proband from this family suffered from type 1 diabetes mellitus. She and her younger sister both tested positive for endomysial antibodies and a CD diagnosis was confirmed by a duodenal biopsy. Except for mild abdominal pain in the younger sister, neither patient had any other symptoms. Whole Exome Sequencing (WES) helped uncover a homozygous insertion c.1683_1684insATT, in the AK5 gene that segregated in an autosomal recessive manner in the family. However, further validation was carried out using 100 CD-affected Saudi patients and 100 healthy Saudi controls. Interestingly, the mutation was found to be highly penetrant in Saudi Arabians (Saudi MAF=0.62, ExAC MAF=0.000008) and was seen to modify the risk of the healthy Saudi population against CD development (p<0.002). This was further consolidated by in-silico analysis which predicted the mutation to induce a gain-of-function in the kinase activity of AK5, potentially down-regulating CD4+ T-cell reactivity against gluten antigens. The authors hence stressed the importance of using population-specific variant databases to prevent false leads.