Characterization of ERAP1 rs30187 and rs10050860 Polymorphisms and Their Association with Ankylosing Spondylitis in The Algerian Population Association of ERAP1 in Algeria

Document Type : Original Article


1 Laboratoire de Génétique Moléculaire et Cellulaire/Université des Sciences et de la Technologie d'Oran Mohamed Boudiaf (USTO‐MB), El Mnouar, BP 1505, Bir El Djir, 31000, Oran, Algeria

2 Service de Rhumatologie/Centre Hospitalo‐ universitaire d’Oran (CHUO), Oran, Algeria

3 Université Abdelhamid Ibn Badis Mostaganem (UMAB), Algeria.

4 Laboratoire d’Immunogénétique et de Transplantation, Département d'Immunologie, Institut Pasteur d’Algérie à Alger. Algeria.

5 GenHotel, University Evry, Université Paris‐ Saclay, Evry, France


Ankylosing spondylitis (AS) is chronic inflammatory rheumatism.   The Endoplasmic Reticulum Aminopeptidase (ERAP1) gene is considered the second genetic factor associated with (AS) after HLA-B27. The aim of this study was to assess the role of ERAP1 rs30187 and rs10050860 polymorphisms in susceptibility to AS for the first time in the Algerian population. A total of one hundred sixteen controls and eighty-one AS cases were included in the present study. ERAP1 rs30187 and rs10050860 variants were determined by using the real‐time polymerase chain reaction method. Differences in allele and genotype distribution between the cases and controls were tested with adjustment for age. A stratification of case and control groups by HLAB27, age (≤30 or >30), gender (male and female) and clinical characteristics were also performed. Statistical analyses were done using SPSS21.0. No statistically significant association was observed between ERAP1 rs30187 and rs10050860 polymorphisms and AS risk (p < 0.025). However, stratification by age and gender showed that the minor allele of rs30187 reduces the risk of developing AS in women with age >30 (OR=0.13[0.04-0.39], p =6.10-5), TT genotype (OR=0.09[0.01-0.6], p=5.10-3) and dominant model (TT+CT) (OR=0.14[0.03-0.6], p= 4.10-3) in a sample of the Algerian population. Indeed, in our study, ERAP1 rs10050860 polymorphism did not predispose us to AS in our population. For the first time, the allelic and genotypic frequencies of ERAP1gene polymorphisms in the Algerian population. This work enriches the library of information about the ERAP1 gene.