PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients.
A linkage and association of the CD45 (protein-tyrosine phosphatase, receptor-type C) C77G polymorphism and multiple sclerosis (MS) has been found in some studies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the transmission disequilibrium test, the mutation has been sought in 241 patients and 217 healthy sibs (HS) from singleton MS families and it was found in 5 (2.07 %) affected and 3 (1.38%) HS from 7 heterozygous parents (1.45 %). Transmission of the G77 allele was 71.4 % (TDT = 1.3, P = 0.26) in patients and 50% (TDT = 0, P = 1) in HS. Stratifying families according to carriage of MS-predisposing (DR+) or not-predisposing (DR-) HLA-DR-DQ genotype in patients, percentage of G77 transmission to DR+ patients was 33 (TDT = 0.33, P = 0.56, Pc = 1.12), while it was 100 (TDT = 4, P = 0.045, Pc = 0.09) in the DR-patients. We concluded that, despite the presence of CD45 G77 polymorphism in a few patients who did not carry the HLADR- DQ MS-predisposing molecules, CD45 did not contribute to development of the disease in Sardinian MS.
Cocco
Eleonora
E
Dipartimento di Neuroscienze, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126, Cagliari, Italy.
Murru
Maria Rita
MR
Melis
Cristina
C
Schirru
Lucia
L
Solla
Elisabetta
E
Lai
Marina
M
Rolesu
Marcella
M
Marrosu
Maria Giovanna
MG
D000483:Alleles; D016009:Chi-Square Distribution; D003596:Cytosine; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006147:Guanine; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D007558:Italy; D017493:Leukocyte Common Antigens / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009103:Multiple Sclerosis / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D017354:Point Mutation
D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C090519:PTPRCAP protein, human; D010750:Phosphoproteins; D006147:Guanine; D003596:Cytosine; D017493:Leukocyte Common Antigens