77 C/G mutation in the tyrosine phosphatase CD45 gene and autoimmune hepatitis: evidence for a genetic link

A Vogel, CP Strassburg, MP Manns - Genes & Immunity, 2003 - nature.com
A Vogel, CP Strassburg, MP Manns
Genes & Immunity, 2003nature.com
Autoimmune hepatitis is a chronic immune-mediated disease characterized by a loss of
tolerance against liver resident antigens. The genetic background of autoimmune hepatitis is
considered to be polygenic. Here we analyzed the genetic association of the tyrosine
phosphatase CD45 and autoimmune hepatitis. CD45 plays an important role in normal
antigen receptor mediated signaling in T and B cells. A point mutation at nucleotide position
77 of the CD45 gene results in abnormal CD45 splicing. In this study a significantly higher …
Abstract
Autoimmune hepatitis is a chronic immune-mediated disease characterized by a loss of tolerance against liver resident antigens. The genetic background of autoimmune hepatitis is considered to be polygenic. Here we analyzed the genetic association of the tyrosine phosphatase CD45 and autoimmune hepatitis. CD45 plays an important role in normal antigen receptor mediated signaling in T and B cells. A point mutation at nucleotide position 77 of the CD45 gene results in abnormal CD45 splicing. In this study a significantly higher frequency of the 77 C/G genotype was observed in 190 autoimmune hepatitis patients when compared to 210 healthy blood donors. Our data identify CD45 as a gene associated with AIH, and further substantiates the hypothesis that CD45 represents a modifier gene of human autoimmunity.
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