RGD Reference Report - 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. - Rat Genome Database

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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.

Authors: Sumita, Y  Sugiura, T  Kawaguchi, Y  Baba, S  Soejima, M  Murakawa, Y  Hara, M  Kamatani, N 
Citation: Sumita Y, etal., Rheumatology (Oxford). 2008 Mar;47(3):289-91. Epub 2008 Feb 8.
RGD ID: 4143377
Pubmed: PMID:18263595   (View Abstract at PubMed)
DOI: DOI:10.1093/rheumatology/kem355   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
interstitial lung disease  IAGP 4143377associated with Scleroderma more ...RGD 
interstitial lung disease  ISOSFTPB (Homo sapiens)4143377; 4143377associated with Scleroderma more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Sftpb  (surfactant protein B)

Genes (Mus musculus)
Sftpb  (surfactant associated protein B)

Genes (Homo sapiens)
SFTPB  (surfactant protein B)


Additional Information