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.

主权项

1. A method of diagnosis of severity of a non-infectious inflammatory disease or of a predisposition to severity of a non-infectious inflammatory disease, said method comprising detecting a polymorphism in a human Mif promoter that correlates with an increase or decrease in MIF polypeptide expression, wherein detection of said polymorphism is indicative of the severity of said disease or predisposition to severity of said disease.