Genetic Factors Involved in Sarcoidosis

نویسندگان

  • Birendra P. Sah
  • Michael C. Iannuzzi
چکیده

Sarcoidosis is an immune mediated disease thought to be caused by complex interaction between genetic and environmental factors. Involvement of genetic factors in sarcoidosis is supported by familial clustering, increased concordance in monozygotic twins and varying incidence and disease presentation among different ethnic groups. Studies have revealed several human leukocyte antigen (HLA) and non-HLA alleles consistently associated with sarcoidosis susceptibility. Two genome scans have been reported in sarcoidosis: one in African Americans reporting linkage to chromosome 5 and the other in German families reporting linkage to chromosome 6. Follow-up studies on chromosome 6 identified the BTNL2 gene, a B7 family costimulatory molecule to be associated with sarcoidosis. Recent genome-wide association studies have found annexin A11 and RAB23 genes associated with sarcoidosis. The ongoing refinement of genetic marker maps, genotyping technology, and statistical analyses makes genomic exploration for sarcoidosis genes appealing.

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تاریخ انتشار 2013