TY - JOUR
T1 - -238 and +489 TNF-α along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis
AU - Tolusso, Barbara
AU - Fabris, Martina
AU - Caporali, Roberto
AU - Cuomo, Giovanna
AU - Isola, Miriam
AU - Soldano, Franca
AU - Montecucco, Carlomaurizio
AU - Valentini, Gabriele
AU - Ferraccioli, Gianfranco
PY - 2005/1/15
Y1 - 2005/1/15
N2 - To investigate possible associations of TNF-α and TNF-RII gene polymorphisms with diffuse or limited skin involvement phenotype in a cohort of Systemic Sclerosis (SSc) patients.: One-hundred and fourteen consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets, and 170 healthy blood donors (HBDs) were included in the study. The extracted DNA was genotyped for the following polymorphisms: TNF-α (-238, +489) and TNF-RII (+196), using the polymerase chain reaction (PCR) and the restriction enzymes BamHI, HpyCH4 IV and NlaIII, respectively.: The AG/AA (presence of allele A) genotypes in position -238 and the AG genotype in position +489 of the TNF-α gene were found significantly increased in SSc, as a whole, when compared with healthy blood donors (χν=22=4.48, p = 0.03 for -238 and χν=22=7.82, p = 0.02 for +489, respectively). The rare GG genotype in exon 6 (codon 196) of the TNF-RII gene was also found increased in SSc compared to HBDs, even though the difference did not show statistical significance (χν=22=3.56, p = 0.17). The strength of the association was mainly due to the dcSSc phenotype (Fisher test, p = 0.04 for -238, χν=22=10.07, p <0.01 for +489 and χν=22=6.25, p = 0.04 for the +196 TNF-RII, respectively).: TNF-α and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.
AB - To investigate possible associations of TNF-α and TNF-RII gene polymorphisms with diffuse or limited skin involvement phenotype in a cohort of Systemic Sclerosis (SSc) patients.: One-hundred and fourteen consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets, and 170 healthy blood donors (HBDs) were included in the study. The extracted DNA was genotyped for the following polymorphisms: TNF-α (-238, +489) and TNF-RII (+196), using the polymerase chain reaction (PCR) and the restriction enzymes BamHI, HpyCH4 IV and NlaIII, respectively.: The AG/AA (presence of allele A) genotypes in position -238 and the AG genotype in position +489 of the TNF-α gene were found significantly increased in SSc, as a whole, when compared with healthy blood donors (χν=22=4.48, p = 0.03 for -238 and χν=22=7.82, p = 0.02 for +489, respectively). The rare GG genotype in exon 6 (codon 196) of the TNF-RII gene was also found increased in SSc compared to HBDs, even though the difference did not show statistical significance (χν=22=3.56, p = 0.17). The strength of the association was mainly due to the dcSSc phenotype (Fisher test, p = 0.04 for -238, χν=22=10.07, p <0.01 for +489 and χν=22=6.25, p = 0.04 for the +196 TNF-RII, respectively).: TNF-α and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.
KW - Diffuse
KW - Limited
KW - Polymorphisms
KW - SSc
KW - TNF-α
KW - TNF-RII
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U2 - 10.1016/j.imlet.2004.08.002
DO - 10.1016/j.imlet.2004.08.002
M3 - Article
C2 - 15585313
AN - SCOPUS:10044289478
VL - 96
SP - 103
EP - 108
JO - Immunology Letters
JF - Immunology Letters
SN - 0165-2478
IS - 1
ER -