Format

Send to:

Choose Destination
See comment in PubMed Commons below
Genes Immun. 2003 Jan;4(1):79-81.

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

Author information

  • 1Department of Gastroenterology, Hepatology and Endocrinology, Medical School of Hannover, D-30625 Hannover, Germany.

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.

PMID:
12595907
[PubMed - indexed for MEDLINE]
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group
    Loading ...
    Write to the Help Desk