title: PTPRC (CD45) C77G mutation does not contribute to multiple sclerosis susceptibility in Sardinian patients.
abstract: 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.
authors.affiliation: Dipartimento di Neuroscienze, Centro Sclerosi Multipla, Ospedale Binaghi, Via Is Guadazzonis, 2, 09126, Cagliari, Italy.
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Maria Rita
authors.initials: MR
authors.lastname: Murru
authors.forename: Cristina
authors.initials: C
authors.lastname: Melis
authors.forename: Lucia
authors.initials: L
authors.lastname: Schirru
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Solla
authors.forename: Marina
authors.initials: M
authors.lastname: Lai
authors.forename: Marcella
authors.initials: M
authors.lastname: Rolesu
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: 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
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D008565:Membrane Proteins; C090519:PTPRCAP protein, human; D010750:Phosphoproteins; D006147:Guanine; D003596:Cytosine; D017493:Leukocyte Common Antigens