TY - JOUR T1 - TCRBV20S1 and TCRBV3S1 Gene Segment Polymorphisms in Systemic Sclerosis JF - The Journal of Rheumatology JO - J Rheumatol SP - 1058 LP - 1063 VL - 35 IS - 6 AU - MARKUS BREDEMEIER AU - JOSÉ ARTUR BOGO CHIES AU - ANDRÉA WIECK AU - KARINA GATZ CAPOBIANCO AU - EDUARDO HENNEMANN PITREZ AU - LUIS EDUARDO PAIM ROHDE AU - ANTÔNIO FERNANDO FURLAN PINOTTI AU - JOÃO CARLOS TAVARES BRENOL AU - RICARDO MACHADO XAVIER Y1 - 2008/06/01 UR - http://www.jrheum.org/content/35/6/1058.abstract N2 - 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. ER -