No Association Between Transmembrane Protein-Tyrosine Phosphatase Receptor Type C (CD45) Exon A Point Mutation (77C>G) and Idiopathic Dilated Cardiomyopathy

• Published in: Human Immunology 2005-09, Vol.66 (9), p.1008-1012
• Main Authors: Thude, Hansjörg, Gerlach, Konstanze, Richartz, Barbara, Krack, Andreas, Brenke, Bettina, Pethig, Klaus, Figulla, Hans-Reiner, Barz, Dagmar
• Format: Article
• Language: English
• Subjects: Adult; Aged; Aged, 80 and over; allele-specific restriction enzyme analysis; Autoimmune disease; Cardiomyopathy, Dilated - genetics; Cardiomyopathy, Dilated - immunology; CD45; Exons; Female; Flow Cytometry; Humans; idiopathic dilated cardiomyopathy; Leukocyte Common Antigens - genetics; Leukocyte Common Antigens - metabolism; Male; Middle Aged; Point Mutation; transversion
• ISSN: 0198-8859; 1879-1166; 1365-2567
• DOI: 10.1016/j.humimm.2005.07.004

To investigate whether a 77C>G polymorphism in exon A of the CD45 gene causing a variant CD45RA expression pattern is associated with the development of idiopathic dilated cardiomyopathy (DCM), we studied a total of 414 individuals (104 patients and 310 controls). CD45RA expression pattern on lymphocytes was examined by flow cytometric analysis and subsequently the CD45 77C>G polymorphism was genotyped by polymerase chain reaction-allele specific restriction enzyme analysis (PCR-ASRA). We found 5 patients and 8 control individuals displaying the variant CD45RA expression pattern. All identified individuals carried the heterozygous CD45 77C>G polymorphism. The frequency of the 77G allele in the patient group was 2.4%, which was not significantly different from 1.3% found in the control group ( p=0.327). In conclusion, the data of this preliminary study could not reveal any association between the CD45 77C>G polymorphism and susceptibility to idiopathic DCM in a German population.