Association between CTLA4 polymorphisms and susceptibility to granulomatosis with polyangiitis.

Background: Granulomatosis with polyangiitis (GPA) is an autoimmune condition. This study evaluated the relationship between CTLA4 gene polymorphisms, specifically rs231775, rs5742909, and rs3087243, and the risk of developing GPA.

Materials and methods: A case-control study was conducted with 217 participants, 102 individuals diagnosed with GPA, and 115 control subjects. The high-resolution melting (HRM) technique was used to genotype these polymorphisms.

Results: For the rs231775 polymorphism, the combined frequencies of AG and GG genotypes suggested an increased risk for GPA. Additionally, the GPA group had a higher frequency of the G allele. Also, patients with GG and AG genotypes displayed elevated levels of certain laboratory indices. Regarding rs5742909, the combined frequencies of TC and TT genotypes were linked to a lower risk of GPA. Moreover, a significant increase in the frequency of the T allele was noted in the control group. Those with the CC genotype exhibited a notably higher incidence of specific laboratory indices and some clinical manifestations. Our study found no significant association between the rs3087243 variant and the risk of developing GPA, nor with clinical or laboratory parameters.

Conclusion: The G allele of the rs231775 is associated with a heightened risk of developing GPA. Conversely, the T allele of the rs5742909 SNP offers a protective effect against GPA; however, the presence of the C allele positively correlates with some laboratory parameters and symptoms. Furthermore, the rs3087243 polymorphism does not seem to be linked to an increased risk of GPA.