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Association of PTPN22 rs2476601 (R620W) polymorphism in Tunisian patients with atopic asthma

Tarak Dhaouadi*, Imen Sfar , Fatma Korbi, Jihen Ben Abdellatif, Ichrak Bannour, Hend Bouacha, Raoudha Bousoffara, Taieb Ben Abdallah , and Yousr Gorgi

Background: PTPN22 (R620W) gene polymorphism (SNP) gene polymorphism has been associated with diverse inflammatory autoimmune diseases. Only a few studies investigated the influence of PTPN22 (R620W) SNP on atopic asthma risk, severity, and IgE levels. Methods: Therefore, PTPN22 rs2476601 (R620W) SNP was examined in 171 patients and 323 healthy subjects matched in age, sex and ethnicity. Results: The PTPN22-620*W variant was significantly more prevalent in patients (0.068) than to controls (0.009); p=1.24E-5, OR (95% CI)=7.69 (3.1-19.07). Analytic results showed that PTPN22*R/W and *W/W genotypes were significantly associated with a family history of atopy, p=0.014. Furthermore, asthma control was significantly worse in patients carrying these mutant genotypes, p=1.63E-7. Moreover, *R/W and *W/W genotypes were significantly correlated to higher levels of total and specific IgE; p=2.1E-3 and p=0.037, respectively. Besides, patients carrying PTPN22-620*R/W and *W/W genotypes had an earlier onset age comparatively to those with *R/R genotype but the difference was not significant, p=0.061. Conclusion: PTPN22 rs2476601 (R620W) polymorphism might influence asthma risk, disease control and IgE synthesis in Tunisian.