Top

Published in:

01-06-2006 | Original article

Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients

Authors: A. Rajaee, A. Ebrahimi, A. Fotouhi Ghiam, T. Kalantari, A. Ghaderi

Published in: Rheumatology International | Issue 8/2006

Abstract

Although, the cytotoxic T lymphocyte antigen-4 gene polymorphism at position 49 of exon-1 has been strongly elucidated in different autoimmune diseases, but its role in predisposition to systemic sclerosis (SSc) is yet controversial. This study intends to analyze the genetic correlation of the ctla-4 gene locus with diffuse systemic sclerosis (dSSc), as well as to understand the influence of these genotypes in disease expression. Seventy known cases of SSc, and 151 age-matched healthy controls, were participated in this investigation. The frequencies of AA, GG and AG genotypes were found to be 26 (37.1%), 5 (7.2%) and 39 (55.7%) in patients, and 60 (39.7%), 19 (12.6%) and 72 (47.7%) in controls, respectively. As indicated, the differences in genotype and allele frequencies between patients and controls were insignificant (P>0.05). Moreover, the distribution of CTLA-4 polymorphism between patients did not differ significantly according to clinical and serologic features. In Iranian patients, susceptibility to SSc is not influenced by a bi-allelic ctla-4 gene (A49G) polymorphism.

Zhou X, Tan FK, Wang N, Xiong M, Maghidman S, Reveille JD et al (2003) Genome-wide association study for regions of systemic sclerosis susceptibility in a Choctaw Indian population with high disease prevalence. Arthrit Rheum 48:2585–2592CrossRef

Derk CT, Jimenez SA (2003) Systemic sclerosis: current views of its pathogenesis. Autoimmun Rev 2:181–191PubMedCrossRef

Bitterncourt PL, Palacios SA, Cancado ELR, Porta G, Carrilho FJ et al (2003) Cytotoxic T lymphocyte antigen-4 gene polymorphism do not confer susceptibility to Autoimmune Hepatitis type 1 and 2 In Brazil. Am J Gastroenterol 98:1616–1620

Mayes MD (2003) Scleroderma epidemiology. Rheum Dis Clin North Am 29: 239–254PubMedCrossRef

Atamas, White SP, Barbara (2003) The role of chemokines in the pathogenesis of scleroderma. Cur Opin Rheumatol 15: 772–777CrossRef

Hasegawa M, Fujimoto M, Kikuchi K, Takehara K (1997) Elevated serum levels of interleukin 4 (IL-4), IL-10, and IL-13 in patients with systemic sclerosis. Rheumatol 24:328–332

Takagi K, Kawaguchi Y, Hara M, Sugiura T, Harigai M, Kamatani N (2003) Serum nitric oxide (NO) levels in systemic sclerosis patients: correlation between NO levels and clinical features. Clin Exp Immunol 134:538–544PubMedCrossRef

Neudecker BA, Stern R, Connolly MK (2004) Aberrant serum hyaluronan and hyaluronidase levels in scleroderma. Dermatol 150:469–476CrossRef

Kessel A, Rosner I, Rozenbaum M, Zisman D, Sagiv A, Shmuel Z et al (2004) Increased CD8+ T cell apoptosis in scleroderma is associated with low levels of NF-kappaB. J Clin Immunol 24:30–36PubMedCrossRef

10.

Asano Y, Ihn H, Yamane K, Kubo M, Tamaki K (2004) Increased expression levels of integrin alphavbeta5 on scleroderma fibroblasts. Am J Pathol 164:1275–1292PubMed

11.

Asano Y, Ihn H, Yamane K, Kubo M, Tamaki K (2004) Impaired Smad7-smurf-mediated negative regulation of TGF-beta signaling in scleroderma fibroblasts. J Clin Invest 113:253–264PubMed

12.

Chung L, Utz PJ (2004) Antibodies in scleroderma: direct pathogenicity and phenotypic association. Curr Rheumatol Rep 6:156–163PubMedCrossRef

13.

Tan FK (2004) Systemic sclerosis: the susceptible host (genetics and environment). Rheum Dis Clin North Am 29:211–237CrossRef

14.

Tikly M, Rands A, McHugh N, Wordsworth P, Welsh K (2004) Human leukocyte antigen class II associations with systemic sclerosis in South Africans. Tissue Antigens 63:487–490PubMedCrossRef

15.

Chistiakov DA, Turakulov RI (2003) CTLA-4 and its role in autoimmune thyroid disease (Review). J Mol Endocrinol 31:21–36PubMedCrossRef

16.

Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G et al (2003) Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 423:506–511PubMedCrossRef

17.

Steen VD, Medsger TA Jr (1990) Epidemiology and natural history of systemic sclerosis. Rheum Dis Clin North Am 16:1–10PubMed

18.

Kalantari T, Mostafavi H, Pezeshki AM, Farjadian S, Doroudchi M, Yeganeh F, Ghaderi A (2003) Exon-1 polymorphism of ctla-4 gene in Iranian patients with Graves’ disease. Autoimmunity 36:313–316PubMedCrossRef

19.

Donner H, Braun J, Seidl C, Rau H, Finke R, Ventz M et al (1997) Codon 17 polymorphism of the cytotoxic T lymphocyte antigen 4 gene in Hashimoto’s thyroiditis and Addison’s disease. J Clin Endocrinol 82:4130–4132CrossRef

20.

Gintrac M (1847) Note sur la sclerodermie. Rev Med Chir Paris 2:263–281

21.

Rodnan GP, Benedek TG (1962) A historical account of the study of progressive systemic sclerosis (diffuse scleroderma). Ann Intern Med 57: 305–319PubMed

22.

Herrick AL, Worthington J (2002) Genetic epidemiology: systemic sclerosis. Arthritis Res 4:165–168PubMedCrossRef

23.

Simmonds MJ, Gough SCL (2004) Unravelling the genetic complexity of autoimmune thyroid disease: HLA, CTLA-4 and beyond. Clin Experiment Immunol 136:1CrossRef

24.

Kouki T, Sawai Y, Gardine CA, Fisfalen ME, Alegre ML, DeGroot LJ (2000) CTLA-4 gene polymorphism at position 40 in exon 1 reduces the inhibitory function of CTLA-4 and contributes to the pathogenesis of Graves’ disease. J Immunol 165:6606–6611PubMed

25.

Hudson LL, Silver RM, Pandey JP (2004) Ethnic differences in cytotoxic T lymphocyte associated antigen-4 genotype association with systemic sclerosis. Rheumatol 31:85–87

26.

Takeuchi F, Kawasugi K, Nabeta H, Mori M, Tanimoto K (2002) Association of CTLA-4 with systemic sclerosis in Japanese patients. Clin Exp Rheumatol 20:823–828PubMed

27.

Ghaderi A, Yeganeh F, Kalantari T, Talei AR, Pezeshki AM, Doroudchi M, Samsami DA (2004) Cytotoxic T lymphocyte antigen-4 in breast cancer. Breast Cancer Res Treat 86:1–7PubMedCrossRef

28.

Ligers A, Teleshova N, Masterman T, Huang WX, Hillert J (2001) CTLA-4 gene expression in influenced by promoter and exon 1 polymorphism. Genes Immun 2:145–152PubMedCrossRef

29.

Hill CL, Nguyen AM, Roder D, Roberts-Thomson P (2003) Risk of cancer in patients with scleroderma: a population based cohort study. Ann Rheum Dis 62:728–731PubMedCrossRef

30.

De Angelis R, Bugatti L, Cerioni A, Del Medico P, Filosa G (2003) Diffuse scleroderma occurring after the use of paclitaxel for ovarian cancer. Clin Rheumatol 22:49–52PubMedCrossRef

31.

Bachleitner-Hofmann T, Machold K, Knobler R, Drach J, Grumbeck E, Gisslinger H (2002) Marked and sustained improvement of systemic sclerosis following polychemotherapy for coexistent multiple myeloma. Clin Exp Rheumatol 20:85–88PubMed

Title: Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients
Authors: A. Rajaee
A. Ebrahimi
A. Fotouhi Ghiam
T. Kalantari
A. Ghaderi
Publication date: 01-06-2006
Publisher: Springer-Verlag
Published in: Rheumatology International / Issue 8/2006
Print ISSN: 0172-8172
Electronic ISSN: 1437-160X
DOI: https://doi.org/10.1007/s00296-005-0047-6

ACC 2024 Congress Coverage

Heart Failure Video

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Exon-1 polymorphism of ctla-4 gene is not associated with systemic sclerosis in Iranian patients

Abstract

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page

At a glance: The ONWARDS insulin icodec trials

Springer Medicine

Abstract

Please log in to get access to this content

Other articles of this Issue 8/2006

Classic disease modifying anti-rheumatic drugs (DMARDs) in combination with infliximab. The Finnish experience

Possible association of the X-ray cross complementing gene 1 (XRCC1) Arg280His polymorphism as a risk for rheumatoid arthritis

Third-degree heart block developing in a female patient with HLA-B27 positive ankylosing spondylitis

Gottron’s papules-like eruption developing under hydroxyurea therapy

Supraclavicular mass disguising as thoracic outlet syndrome

Study of the autoantibody profile after the acute phase of Kawasaki disease in a cohort of children from North India

ACC 2024 Congress Coverage

Year in Review: Heart failure and cardiomyopathies

Semaglutide benefits people with type 2 diabetes and obesity-related heart failure

Incentivised to exercise

New intervention for STEMI-related cardiogenic shock

» View more highlights on the ACC 2024 congress hub page