Caspian Journal of Internal Medicine

en Investigation of the potential impact of two functional variants in the VEGF gene on the risk and clinical characteristics of granulomatosis with polyangiitis: A case-control study Genetics Original Article Original Article Background: Granulomatosis with polyangiitis (GPA) is an autoimmune disorder that results from an interplay of genetic factors and environmental influences. We investigated the association between two polymorphisms in the VEGF gene, specifically rs2010963 and rs833061, and the likelihood of developing GPA. Methods: A case-control study involving 224 participants was conducted, comprising 104 individuals diagnosed with GPA and 120 control subjects. The high-resolution melting (HRM) technique was employed for genotyping these polymorphisms. Results: The findings revealed a significant difference in the distribution of the CC genotype and C allele for rs2010963 between the control and case groups (CC vs GG; OR: 2.687; 95% CI [1.185-6.264], P: 0.014; C vs G; OR: 1.628; 95% CI [1.097-2.421], P: 0.012). Moreover, patients with the GC + CC genotype exhibited elevated mean levels of creatinine, erythrocyte sedimentation rate (ESR), and C-reactive protein (CRP), as well as a higher incidence of alveolar hemorrhage compared to those with the GG genotype. Concerning rs833061, no association with GPA risk was identified; however, correlations were noted with certain laboratory and clinical parameters, including PR3-ANCA levels, septal perforation, alveolar hemorrhage, renal involvement, and rapidly progressive glomerulonephritis (RPGN). Conclusion: The C allele of rs2010963 is linked to an increased risk of developing GPA and certain laboratory and clinical parameters, while the rs833061 polymorphism does not appear to be associated with GPA risk but is correlated with various laboratory and clinical indices. VEGF gene, Genotype, Granulomatosis with polyangiitis, Polymorphism 16 0 http://caspjim.com/browse.php?a_code=A-10-3906-1&slc_lang=en&sid=1 Amirali Pourebrahimi abeheshtin1990@gmail.com 100319475328460056560 100319475328460056560 No Otorhinolaryngology Research Center, Amiralam Hospital, Tehran University of Medical Sciences, Tehran, Iran Mozhdeh Saghaei limolaie_s@yahoo.com 100319475328460056561 0009-0008-0604-5249 No Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Naeim Ehtesham naeim.ehtesham@yahoo.com 100319475328460056562 100319475328460056562 No Ariyogene Medical Genetics Lab, Yasuj, Iran Huriyeh Hashemi hashemihuriyeh@gmail.com 100319475328460056563 0009-0008-2271-2953 No Department of Internal Medicine, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Seyed Amirhosein Mazhari .a.mazhari2000@gmail.com 100319475328460056564 100319475328460056564 No Student Research Committee, Azerbaijan Medical University, Baku, Azerbaijan Hamidreza Karbalaei-Musa s.najafiizade1@gmail.com 100319475328460056565 0009-0002-5899-3319 No Department of Internal Medicine, School of Medicine, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran Mohammad Javad Broujerdi bjmohammad1998@gmail.com 100319475328460056566 0009-0004-7247-4149 No Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran Meysam Mosallaei Me.mosallayi@uswr.ac.ir 100319475328460056567 100319475328460056567 Yes Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran