Association of rs1319868, rs1567811 and rs8041224 of IGF1R gene with infection among sickle cell anemia Tunisian patients

Background and aim Sickle cell anemia (SCA) is characterized by variable patterns of clinical expression. Polymorphisms linked to different genes have been associated with specific complications of the disease. Herein, we focused on the study of the association of 4 polymorphisms of Insulin like Growth Factor 1 receptor ( IGF1R ) gene with infections, which are the major cause of death in SCA. Material and methods This study involved 116 sickle cell patients among whom 58 SS have the same confirmed infectious phenotype. Allele-Specific PCR was performed for the study of rs1319868, whereas the PCR/sequencing method was carried out for rs1567811, rs2872060 and rs8041224. Results The results showed that rs1319868 and rs1567811 were associated with a decreased risk of infection among SS patients ( p = 0.038, RR = 0.54; p = 0.044, RR = 0.56, respectively). Interestingly, the combination of different genotypes showed the association of the genotype GT of rs1319868 and the genotype CC of rs8041224 with further decreased infection risk in SCA ( p = 0.028, RR = 0.04). Conclusion These significant associations of IGF1R SNPs with infection suggest that this gene could play an important role in the immune function in SCA.