MACROPHAGE MIGRATION INHIBITORY FACTOR MIF PROMOTER POLYMORPHISM IN INFLAMMATORY DISEASE

摘要

Describe herein is a novel CATT-tetranucleotide repeat polymorphism at position -817 of the human Mif gene that functionally affects the activity of the Macrophage Inhibitory Factor MIF promoter in gene reporter assays. Four genotypes are described which comprise 5, 6, 7, or 8-CATT repeat units. Of these, the 5-CATT allele has the lowest level of basal and stimulated MIF promoter activity in vitro. The presence of the low expressing, 5-CATT repeat allele correlated with low disease severity in a cohort of rheumatoid arthritis patients. Methods, compositions and apparatus for detecting this CATT-tetranucleotide repeat polymorphism at position -817 of the human Mif gene, and for using same for assessing predisposition to severe inflammatory disease, are also disclosed.