Ballerini Clara, Rosati Eleonora, Salvetti Marco, Ristori Giovanni, Cannoni Stefania, Biagioli Tiziana, Massacesi Luca, Sorbi Sandro, Vergelli Marco
Department of Neurological and Psychiatric Sciences, University of Florence, Viale Pieraccini 6, 50134, Florence, Italy.
Neurosci Lett. 2002 Aug 16;328(3):325-7. doi: 10.1016/s0304-3940(02)00565-7.
In this study, we investigate the role of the C-->G mutation in position 77 of exon 4 of the protein tyrosine phosphatase receptor-type C (PTPRC) gene, coding for the CD45 molecule, for the development of multiple sclerosis (MS) in an Italian continental population. The PTPRC mutated genotype has been recently described as associated with MS in three different case-control studies carried out in German MS patients, whereas similar studies performed in the US and Swedish populations failed to demonstrate such an association. The C-->G transition in position 77 was found in a small number of Italian MS patients and in none of the matched group of healthy controls (Fisher exact test, P value=0.02). This finding suggests a role, in at least a group of patients, for the PTPRC mutation in genetic susceptibility to MS.
在本研究中，我们调查了编码CD45分子的蛋白酪氨酸磷酸酶受体C型（PTPRC）基因第4外显子77位C→G突变在意大利大陆人群多发性硬化症（MS）发病中的作用。最近在德国MS患者中进行的三项不同病例对照研究中，PTPRC突变基因型已被描述为与MS相关，而在美国和瑞典人群中进行的类似研究未能证实这种关联。在少数意大利MS患者中发现了77位的C→G转换，而在匹配的健康对照组中均未发现（Fisher精确检验，P值 = 0.02）。这一发现表明，至少在一组患者中，PTPRC突变在MS遗传易感性中起作用。
