Endoplasmic reticulum aminopeptidase protein 1 and Behçet’s syndrome

Excerpt

Dear Editor, we read the publication on “Distribution of rs17482078 and rs27044 ERAP1 polymorphisms in a group of Italian Behçet’s syndrome (BS) patients: a preliminary case–control study” with a great interest [1]. Padula et al. concluded that “our data show a stronger association of rs17482078 with BS compared to rs27044 by means of case–control genetic analysis and bioinformatics prediction of protein structure change [1]”. We would like to share ideas and discuss on the effect of the studied genetic variants. Indeed, this observation is explainable by the molecular change. Regarding rs17482078 (NG_027839.1:g.35983G>A) and rs27044 (NG_027839.1:g.35997C>G), the main change is at a nucleic acid in each variant. Based on the molecular weight alteration calculation as mentioned in the previous literatures [2‐4], the change in rs17482078 and rs27044 is equal to − 16 and + 40.02 g/Mol. Therefore, the expression process in rs27044 is more difficult and the stronger association with BS can be expected in rs17482078. This pathophysiological process is explainable in the same way as those described in clinical association between genetic variants and other medical disorder [2‐4]. …