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Association between CBL gene polymorphism and susceptibility of microscopic polyangiitis in a Chinese population: A case-control analysis
Cytokine ( IF 3.8 ) Pub Date : 2024-04-25 , DOI: 10.1016/j.cyto.2024.156596 Liu Liu , Yan Zhu , Jingjing Lan , Liepeng Chu , Wei Li , Chao Xue
Cytokine ( IF 3.8 ) Pub Date : 2024-04-25 , DOI: 10.1016/j.cyto.2024.156596 Liu Liu , Yan Zhu , Jingjing Lan , Liepeng Chu , Wei Li , Chao Xue
To assess whether () gene polymorphism influences the risk of microscopic polyangiitis (MPA) in Chinese populations. In total, 266 MPA patients and 297 healthy controls were recruited for a case-control study. Five SNPs were genotyped using multiplex polymerase chain reaction and high-throughput sequencing. The relationship between SNPs and the risk of MPA under different genetic models was evaluated by SNPstats. SNP-SNP interaction was analyzed by generalized multifactor dimensionality reduction (GMDR). Finally, the association between SNPs and treatment effects were assessed. The results showed that rs2276083 was associated with decreasing MPA risk under dominant (OR: 0.53; = 0.014) and recessive models (OR: 0.52; = 0.0034). Stratification analysis indicated that rs2276083 and rs2509671 in age < 60 years, rs2276083 in female or in Han population were protective factors for MPA. The haplotype (A-A-G-C-T) was associated with an increased risk of MPA. GMDR suggested that rs2276083, phosphatidylinositol-4, 5-bisphosphate 3-kinase catalytic subunit alpha () rs1607237, and autophagy-related gene 7 () rs7549008 might interact with each other in MPA development ( = 0.0107). rs1047417 with AG genotype and rs11217234 with AG genotype had better clinical treatment effects than other two genotypes ( = 0.048 and = 0.025, respectively). The genetic polymorphism of had a potential association with the risk of MPA and clinical treatment effects in Guangxi population in China.
更新日期：2024-04-25
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