A transmembrane protein–tyrosine phosphatase receptor type C (CD45) exon A point mutation (77 C to G) is not associated with the development of type 1 diabetes mellitus in a German population

Abstract

To investigate whether a C to G transversion at position 77 in exon A of the CD45 gene is associated with the development of diabetes mellitus type 1 (T1D), we studied 165 patients and 220 control individuals. The frequency of the 77G allele in the control group was 1.1%, which was not significantly different from the 1.2% found in the patient group (P = 0.922). The C to G transversion does not seem to be associated with susceptibility for T1D.

Altered CD45 expression and disease

“…An increased frequency of C77G has been found in HIV [26], Langerhans cell histiocytosis [27], systemic sclerosis [28] and autoimmune hepatitis [29], but there is no association with common variable immunodeficiency, Graves' disease or diabetes [23,30,31]. Probably because C77G individuals are readily recognized by their phenotype, C77G has been found in four patients with systemic lupus erythematosus (SLE) [28], one with myasthenia gravis [32], and in families with haemophagocytic lymphohistiocytosis or erythrocytic haemophagocytosis [33,34].…”

No association between transmembrane protein–tyrosine–phosphatase receptor type C (CD45) exon A 77C>G transversion and Hashimoto's thyroiditis in a German population

“…This 77CϾG transversion has been suggested by some investigators to be associated with multiple sclerosis, although other studies could not confirm such an association [9 -12]. Negative results were also obtained for the autoimmune diseases diabetes mellitus type I, rheumatoid arthritis, inflammatory bowel disease, and idiopathic dilated cardiomyopathy [13][14][15][16][17]. Furthermore, some studies reported an increased frequency of the 77G allele in autoimmune hepatitis and systemic sclerosis, which was contradicted by recently published studies [18 -21].…”

No association of the CD45 77C>G transversion with inflammatory bowel disease in German patients

“…In contrast, other studies have not confirmed this association (Barcellos et al ., 2001; Miterski et al ., 2002; Cocco et al ., 2004). In addition, further reports have found an association of the 77C>G transversion with HIV infection, histiocytosis, systemic sclerosis and autoimmune hepatitis (Tchilian et al ., 2001; Schwinzer et al ., 2003; Vogel et al ., 2003; Boxall et al ., 2004), but there is no association with Graves’ disease, rheumatoid arthritis, diabetes and idiopathic dilated cardiomyopathy (Wood et al ., 2000; Miterski et al ., 2004; Thude et al ., 2004; Thude et al ., 2005). Concerning these data it has been strongly suggested that the higher frequency of the 77C>G transversion in some patient groups with immunopathological diseases renders CD45 to contribute to the disease manifestation.…”

“…Patients with indeterminate colitis were not included. Each individual of the study was genotyped for the CD45 77C>G transversion by polymerase chain reaction-allele-specific enzyme analysis (Thude et al ., 2004). The 77C>G transversion introduces a new restriction site for Msp I, which cleaves the 198 bp fragment into two fragments of 114 and 84 bp.…”