Jüvenil idiyopatik artrit hastalığında bozuk x-kromosomu etkinsizleştirilmesi

Juvenile idiopathic arthritis (JIA) is the most common childhood rheumatic disease withfemale predominance and an incidence between 7-21/100,000. There are several explanationsfor the reason of disease development, such as environmental factors that triggerautoimmunity and genetic basis. The genetic basis of JIA is not well defined. It rarelymanifests familial recurrence. But the monozygotic twin data suggest that there is aconsiderable genetic basis, which is likely to involve multiple epigenetic events. It wasproposed that a disturbance in mosaicism of females may cause autoimmune diseasedevelopment. Recently, in our lab, an association between extremely skewed X-chromosomeinactivation (XCI) patterns and female predisposition to autoimmunity was identified. SinceJIA is thought to have an autoimmune etiology, we hypothesized that skewed XCI might playa role in the disease development. To determine XCI status, androgen receptor locus wasanalyzed by methylation sensitive Hpa II digestion followed by PCR by using of 72 femalepatients diagnosed with JIA and 183 female controls, which comprised of newborns (n=91)and children with no history of an autoimmune condition (n=92). A male control (46, XY)was used for complete digestion in the analysis of XCI pattern. We expect to see anassociation between extremely skewed XCI and female predisposition to JIA.