Polymorphisms of the macrophage inflammatory protein 1 alpha and ApoE genes are associated with ulcerative colitis

Background and aims An increased production of macrophage inflammatory proteins 1 alpha (MIP-1α) has been reported to be associated with ulcerative colitis (UC). We investigated whether a polymorphism site in MIP-1α was associated with UC in a Chinese population. Additionally, considering the abnormal lipoprotein metabolism in subjects with UC, we also sought to determine whether genetic variation in the apolipoprotein E (ApoE) gene may play a role in the development of UC. Materials and methods We examined the MIP-1α -906 (TA)₄/(TA)₆ polymorphism and the ApoE polymorphism in a cohort of 162 unrelated UC patients and 220 healthy controls by using restriction fragment length polymorphism assay. Results A significantly increased frequency of the MIP-1α -906 (TA)₆/(TA)₆ genotype (P = 0.0031, odds ratio [OR] = 1.851, 95% confidence interval [CI] 1.228-2.791), as well as of the ApoE ε4+ genotype (P < 0.001, OR = 2.869, 95% CI 1.768-4.657), in patients with UC was proven. Moreover, the carriage of both MIP-1α -906 (TA)₆/(TA)₆ genotype and ApoE ε4+ genotype confers greater risk for the development of UC (P < 0.001, OR = 5.432, 95% CI 2.761-10.689). Conclusion These findings suggest that variation in the MIP-1α and ApoE genes and their interaction may increase susceptibility to UC. Identifying these novel susceptibility genes, as well as their interactions, will help our understanding of the disease mechanisms of UC and may identify targets for developing novel treatment measures.