John A. Baugh,Richard J. Bucala,Smita Chitnis,Seamus C. Donnelly,Peter K. Gregersen,Joanita Monteiro
申请号：
US14828415
公开号：
US20160201130A1
申请日:
2015.08.17
申请国别(地区):
US
年份:
2016
代理人:
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.
