Laboratorio de Inmunología y Biología Celular y Molecular, Facultad de Ciencias Químicas, UASLP, Mexico.
Cell Immunol. 2012 Mar-Apr;276(1-2):168-75. doi: 10.1016/j.cellimm.2012.05.005. Epub 2012 May 18.
We assessed the possible association between several single nucleotide polymorphisms (SNP) of P2RX7 gene with systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA). We determined the function of P2X7 receptor and the frequency of the 489C>T, 1096C>G, and 1513A>C SNP of P2RX7 gene in 111 and 122 patients with SLE and RA, and 98 healthy subjects. We found no significant association between the SNPs studied and SLE or RA. We also detected that lymphocytes from SLE and RA patients with the 489C>T SNP showed a higher ethidium bromide uptake in response to ATP than wild type or 1096C>G/1513A>C subjects. In addition, cells from RA patients and the 489C>T genotype, showed higher [Ca(2+)]i responses to ATP. Our data indicate that the 489C>T SNP of P2RX7 gene confers an enhanced function of this receptor in patients with RA, which may contribute to the pathogenesis of this condition.
我们评估了 P2RX7 基因的几个单核苷酸多态性（SNP）与系统性红斑狼疮（SLE）和类风湿关节炎（RA）之间的可能关联。我们确定了 P2X7 受体的功能以及 P2RX7 基因的 489C>T、1096C>G 和 1513A>C SNP 的频率，在 111 名和 122 名 SLE 和 RA 患者以及 98 名健康受试者中进行了检测。我们没有发现研究的 SNP 与 SLE 或 RA 之间存在显著关联。我们还发现，来自 SLE 和 RA 患者的携带 489C>T SNP 的淋巴细胞对 ATP 的溴化乙锭摄取比野生型或 1096C>G/1513A>C 受试者更高。此外，来自 RA 患者和 489C>T 基因型的细胞对 ATP 显示出更高的 [Ca(2+)]i 反应。我们的数据表明，P2RX7 基因的 489C>T SNP 赋予了 RA 患者这种受体的增强功能，这可能有助于该疾病的发病机制。
