000 02401na a2200229 4500
999 _c756
_d756
003 H12O
005 20190820125339.0
008 130622s2012 xxx||||| |||| 00| 0 eng d
040 _cH12O
041 _aeng
100 _9467
_aCarreira Delgado, Patricia Esmeralda
_eReumatología
245 0 4 _aThe autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis.
_h[artículo]
260 _bGenes and Immunity,
_c2012
300 _a13(2):191-6.
500 _aFormato Vancouver: Martín JE, Carmona FD, Broen JC, Simeón CP, Vonk MC, Carreira P, et al. The autoimmune disease-associated IL2RA locus is involved in the clinical manifestations of systemic sclerosis. Genes Immun. 2012 Feb;13(2):191-6.
501 _aPMID: 22012429
504 _aContiene 29 referencias
520 _aRegulatory T cells (T(regs)) are crucial in the maintenance of the immune tolerance and seem to have an important role in systemic sclerosis (SSc). The interleukin 2 receptor α (IL2RA) is an important T(reg) marker, and polymorphisms of IL2RA gene are associated with a number of autoimmune diseases. Therefore, we aimed to investigate for the first time the association of the IL2RA locus in SSc. For this purpose, a total of 3023 SSc patients and 2735 matched healthy controls, from six European Caucasian cohorts, were genotyped for the IL2RA gene variants rs11594656, rs2104286 and rs12722495 using the TaqMan allelic discrimination technology. The overall meta-analysis reached statistical significance when the three polymorphisms were tested for association with SSc, the limited subtype (lcSSc) and anti-centromere auto-antibodies (ACAs). However, no significant P-values were obtained when the ACA-positive patients were removed from the SSc and lcSSc groups, suggesting that these associations rely on ACA positivity. The strongest association signal with ACA production was detected for rs2104286 (P(FDR)=2.07 × 10(-4), odds ratio=1.30 (1.14-1.47)). The associations of rs11594656 and rs12722495 were lost after conditioning to rs2104286, and allelic combination tests did not evidence a combined effect, indicating that rs2104286 best described the association between IL2RA and ACA presence in SSc.
710 _9123
_aServicio de Reumatología
856 _uhttp://pc-h12o-es.m-hdoct.a17.csinet.es/pdf/pc/7/pc756.pdf
_ySolicitar documento
942 _n0
_2ddc
_cART