OBJECTIVE: The contribution of CTLA-4 alleles to the pathogenesis of systemic sclerosis (SSc) was studied in Japanese patients. METHODS: CTLA-4 typing in 2 dimorphic sites, +49 A/G and -308 C/T, was carried out in 62 SSc patients and 107 normal subjects by the PCR-RFLP (restriction fragment length polymorphism) method. HLA-DRB1*15 and *08 genotyping were carried out by the PCR-SSCP (simple-stranded DNA conformation polymorphism) method. RESULTS: In SSc the frequency of the +49A allele increased slightly (40.3%), but was not significant. In SSc with diffuse scleroderma and SSc with anti-topoisomerase I antibody, the +49A also increased (43.8%, and 48.0%, respectively) but again was not significant. A significant increase in the +49A was not observed in SSc with HLA-DRB1*1502 or ORB1*0802. In contrast, the +49A had significantly increased in SSc with the anti-RNP antibody [52.9%, p = 0.0337, Odds ratio (OR) = 2.27 (95% confidential interval (CI) = 1.09-4.71)]. HLA-DRB1*1502 and *0802 had no influence on the association of anti-RNP antibody with the +49A. The +49AA genotype increased significantly in SSc without lung fibrosis [31.8%, p = 0.0456, OR = 3.37 (CI = 1.16-9.87)], especially in limited SSc without lung fibrosis [33.3%, p = 0.0319, OR = 3.62 (CI = 1.16-11.29)]. The dimorphism at -308 did not associate with SSc. CONCLUSION: In Japanese scleroderma, the +49A allele of CTLA-4 increased in the presence of SSc with the anti-RNP antibody.
OBJECTIVE: The contribution of CTLA-4 alleles to the pathogenesis of systemic sclerosis (SSc) was studied in Japanese patients. METHODS:CTLA-4 typing in 2 dimorphic sites, +49 A/G and -308 C/T, was carried out in 62 SSc patients and 107 normal subjects by the PCR-RFLP (restriction fragment length polymorphism) method. HLA-DRB1*15 and *08 genotyping were carried out by the PCR-SSCP (simple-stranded DNA conformation polymorphism) method. RESULTS: In SSc the frequency of the +49A allele increased slightly (40.3%), but was not significant. In SSc with diffuse scleroderma and SSc with anti-topoisomerase I antibody, the +49A also increased (43.8%, and 48.0%, respectively) but again was not significant. A significant increase in the +49A was not observed in SSc with HLA-DRB1*1502 or ORB1*0802. In contrast, the +49A had significantly increased in SSc with the anti-RNP antibody [52.9%, p = 0.0337, Odds ratio (OR) = 2.27 (95% confidential interval (CI) = 1.09-4.71)]. HLA-DRB1*1502 and *0802 had no influence on the association of anti-RNP antibody with the +49A. The +49AA genotype increased significantly in SSc without lung fibrosis [31.8%, p = 0.0456, OR = 3.37 (CI = 1.16-9.87)], especially in limited SSc without lung fibrosis [33.3%, p = 0.0319, OR = 3.62 (CI = 1.16-11.29)]. The dimorphism at -308 did not associate with SSc. CONCLUSION: In Japanese scleroderma, the +49A allele of CTLA-4 increased in the presence of SSc with the anti-RNP antibody.
Authors: Xiaodong Zhou; Jong Eun Lee; Frank C Arnett; Momiao Xiong; Min Young Park; Yeon Kyeong Yoo; Eun Soon Shin; John D Reveille; Maureen D Mayes; Jin Hyun Kim; Ran Song; Ji Yong Choi; Ji Ah Park; Yun Jong Lee; Eun Young Lee; Yeong Wook Song; Eun Bong Lee Journal: Arthritis Rheum Date: 2009-12
Authors: G Balbi; F Ferrera; M Rizzi; P Piccioli; A Morabito; L Cardamone; M Ghio; G L Palmisano; P Carrara; S Pedemonte; M Sessarego; M De Angioletti; R Notaro; F Indiveri; M P Pistillo Journal: Clin Exp Immunol Date: 2007-04-25 Impact factor: 4.330