Frequency of TNFα and TNF receptor-1 polymorphisms in SSc patients with and without lung involvement
C. Alexopoulou, D. Bisirtzoglou, D. A. Vassilakis, H. Marsh, K. I. Welsh, C. M. Black, R. M. du Bois, P. Pantelidis (London, Oxford, United Kingdom)
Source: Annual Congress 2001 - Inflammation and genetics in airway disease
Session: Inflammation and genetics in airway disease
Session type: Oral Presentation
Number: 3387
Disease area: Interstitial lung diseases
Abstract The aetiology of diffuse lung disease in patients with systemic sclerosis (FASSc) is not fully understood but recent studies have demonstrated a strong positive association between FASSc and the presence of the anti-topoisomerase I autoantibody (Scl70); in marked contrast the anticentromere autoantibody (ACA) is strongly protective. Tumor necrosis factor alpha (TNFa) is a proinflammatory mediator associated with the development of fibrosing alveolitis and is found in higher levels in the lower respiratory tract fluid of FASSc patients. We hypothesised that TNFa and/or TNF receptor 1 (TNFR1) single nucleotide polymorphisms (SNP's) might be additional predisposing factor to FASSc. TNFR1 (4 SNP's) and TNFa (6 SNP's) were examined in 80 UK Caucasoid patients (FASSc:57; Scl70:35, ACA:30) and controls. The TNFR1 exon1 allele frequencies differed between FASSc patients and controls (puc =0.039), supporting the hypothesis. However, the TNFa -1032 promoter polymorphism allele frequency was significantly different, even after full multiple test corrections, between the ACA subgroup and both normal controls (puc =0.0062; pcorr =0.042) and the Scl70 subgroup (puc =0.0013; pcorr =0.009). It was not a significant marker for FASSc. We conclude that polymorphisms in the TNFa gene are strongly linked to the ACA autoantibody profile whereas the TNFR1 exon1 polymorphism is a weak indicator of lung involvement.
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C. Alexopoulou, D. Bisirtzoglou, D. A. Vassilakis, H. Marsh, K. I. Welsh, C. M. Black, R. M. du Bois, P. Pantelidis (London, Oxford, United Kingdom). Frequency of TNFα and TNF receptor-1 polymorphisms in SSc patients with and without lung involvement. Eur Respir J 2001; 16: Suppl. 31, 3387
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