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Rheumatology Advance Access originally published online on February 8, 2008
Rheumatology 2008 47(3):289-291; doi:10.1093/rheumatology/kem355
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© The Author 2008. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Genetic polymorphisms in the surfactant proteins in systemic sclerosis in Japanese: T/T genotype at 1580 C/T (Thr131Ile) in the SP-B gene reduces the risk of interstitial lung disease

Y. Sumita1, T. Sugiura2, Y. Kawaguchi2, S. Baba2, M. Soejima2, Y. Murakawa1, M. Hara2 and N. Kamatani2

1Third Department of Internal Medicine, Faculty of Medicine, Shimane University, Shimane and 2Institute of Rheumatology, Tokyo Women's Medical University School of Medicine, Tokyo, Japan.

Correspondence to: Y. Kawaguchi, Institute of Rheumatology, Tokyo Women's Medical University School of Medicine, 10-22 Kawada-cho, Shinjuku-ku, Tokyo 162-0054, Japan. E-mail: y-kawa{at}ior.twmu.ac.jp


  Abstract

Objectives. To investigate the association between single-nucleotide polymorphisms (SNPs) in the pulmonary surfactant protein (SP) genes and the presence or absence of interstitial lung disease (ILD) in SSc patients.

Methods. We studied 127 Japanese patients with SSc and 206 normal subjects. Investigated SNPs were C/T within amino acid (aa) 219, Arg219Trp in the SP-A1 gene (rs4253527), C/T within aa 131 (at nucleotide 1580) and Thr131Ile of the SP-B gene (rs1130866). Genotypes were determined by the TaqMan method.

Results. Genotype frequencies were not different between the SSc patients and normal controls for both loci. The patients were subsequently divided into two groups based on presence or absence of ILD. In the SNP in the SP-B gene, the frequency of the T/T genotype was significantly lower in the patients with ILD than in those without ILD. Limited in the patients who were positive for anti-Scl-70 antibody, the difference in the frequency of the T/T genotype between the ILD-positive and ILD-negative groups became more apparent. On the other hand, in the SNP in the SP-A1 gene, there was no significant skewing for a certain genotype.

Conclusion. In SSc, where massive fibrosis occurs, possession of the T/T genotype in the SP-B gene would reduce the risk of ILD in Japanese.

KEY WORDS: Systemic sclerosis, Interstitial lung disease, Genetic polymorphism, Surfactant protein

Submitted 26 September 2007; revised version accepted 3 December 2007.
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