title: TCRBV20S1 and TCRBV3S1 gene segment polymorphisms in systemic sclerosis.
abstract: OBJECTIVE
  To compare the frequencies of variants of TCRBV20S1 and TCRBV3S1 gene segments in patients with systemic sclerosis (SSc) and in controls. The null allele (allele 2) of TCRBV20S1 is associated with reduced levels of Vbeta20+ T-cells in the peripheral blood, while allele 1 of TCRBV3S1 is related to a low frequency of Vbeta3.1+ T-cells.
  
  
  METHODS
  One hundred thirty patients with SSc and 118 healthy volunteer controls were genotyped for TCRBV20S1, and 117 patients and 85 controls were genotyped for TCRBV3S1 variants by PCR-RFLP. Patients underwent clinical evaluation, serology, pulmonary function tests, high resolution computed tomography, and Doppler echocardiography.
  
  
  RESULTS
  The genotypic frequencies of TCRBV20S1 were 0.46 (allele 1/allele 1), 0.43 (allele 1/allele 2), and 0.11 (allele 2/allele 2) in SSc patients; in controls the frequencies were 0.70, 0.26, and 0.04, respectively (p < 0.001). The Mantel-Haenszel odds ratio (stratified by race and sex) of the allele 2 carrier state was 3.88 (95% CI 1.94 to 7.75). The allelic and genotypic frequencies of the TCRBV3S1 gene segment did not differ significantly in patients and controls. However, among patients, allele 1 (TCRBV3S1) carriers had a higher prevalence of interstitial lung disease (adjusted p = 0.032).
  
  
  CONCLUSIONS
  The null allele of the TCRBV20S1 and the allele 1 of TCRBV3S1 gene segments may be considered risk factors for the development of SSc and interstitial lung disease, respectively, suggesting a protective role of Vbeta20+ and Vbeta3.1+ cells in the pathogenic immune responses in SSc.
authors.affiliation: Division of Rheumatology, Radiology, and Cardiology of the Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Markus
authors.initials: M
authors.lastname: Bredemeier
authors.forename: José Artur Bogo
authors.initials: JA
authors.lastname: Chies
authors.forename: Andréa
authors.initials: A
authors.lastname: Wieck
authors.forename: Karina Gatz
authors.initials: KG
authors.lastname: Capobianco
authors.forename: Eduardo Hennemann
authors.initials: EH
authors.lastname: Pitrez
authors.forename: Luis Eduardo Paim
authors.initials: LE
authors.lastname: Rohde
authors.forename: Antônio Fernando Furlan
authors.initials: AF
authors.lastname: Pinotti
authors.forename: João Carlos Tavares
authors.initials: JC
authors.lastname: Brenol
authors.forename: Ricardo Machado
authors.initials: RM
authors.lastname: Xavier
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D019674:Genes, T-Cell Receptor beta / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D017563:Lung Diseases, Interstitial / Q000150:complications / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016017:Odds Ratio; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D045743:Scleroderma, Diffuse / Q000150:complications / Q000235:genetics*; D045745:Scleroderma, Limited / Q000150:complications / Q000235:genetics*