A linkage and association of the CD45 (protein tyrosine phosphatase, receptor type C) C77G polymorphism and multiple sclerosis (MS) has been found in some s tudies but not in others. We analysed the C77G polymorphism ...A linkage and association of the CD45 (protein tyrosine phosphatase, receptor type C) C77G polymorphism and multiple sclerosis (MS) has been found in some s tudies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the ransmission disequ ilibrium 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. Str atifying families according to carriage of MS predisposing (DR+) or not predi sposing(DR ) HLA DR DQ genotype in patients, percentage of G77 transmission t o 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 pr esence of CD45 G77 polymorphism in a few patients who did not carry the HLA DR DQ MS predisposing molecules, CD45 did not contribute to development of the d isease in Sardinian MS.展开更多
文摘A linkage and association of the CD45 (protein tyrosine phosphatase, receptor type C) C77G polymorphism and multiple sclerosis (MS) has been found in some s tudies but not in others. We analysed the C77G polymorphism in MS patients from the genetically homogeneous population of Sardinia. Using the ransmission disequ ilibrium 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. Str atifying families according to carriage of MS predisposing (DR+) or not predi sposing(DR ) HLA DR DQ genotype in patients, percentage of G77 transmission t o 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 pr esence of CD45 G77 polymorphism in a few patients who did not carry the HLA DR DQ MS predisposing molecules, CD45 did not contribute to development of the d isease in Sardinian MS.
