RT Journal Article
SR Electronic
T1 TCRBV20S1 and TCRBV3S1 Gene Segment Polymorphisms in Systemic Sclerosis
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 1058
OP 1063
VO 35
IS 6
A1 MARKUS BREDEMEIER
A1 JOSÉ ARTUR BOGO CHIES
A1 ANDRÉA WIECK
A1 KARINA GATZ CAPOBIANCO
A1 EDUARDO HENNEMANN PITREZ
A1 LUIS EDUARDO PAIM ROHDE
A1 ANTÔNIO FERNANDO FURLAN PINOTTI
A1 JOÃO CARLOS TAVARES BRENOL
A1 RICARDO MACHADO XAVIER
YR 2008
UL http://www.jrheum.org/content/35/6/1058.abstract
AB 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 Vβ20+ T-cells in the peripheral blood, while allele 1 of TCRBV3S1 is related to a low frequency of Vβ3.1+ 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). Conclusion 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 Vβ20+ and Vβ3.1+ cells in the pathogenic immune responses in SSc.