Gomez-Lira Macarena, Liguori Maria, Magnani Corrado, Bonamini Deborah, Salviati Alessandro, Leone Maurizio, Andreoli Virginia, Trojano Maria, Valentino Paola, Savettieri Giovanni, Quattrone Aldo, Pignatti Pier Franco, Momigliano-Richiardi Patricia, Giordano Mara
Dipartimento Materno Infantile e di Biologia-Genetica, Sezione di Biologia e Genetica, Università di Verona, Verona, Italy.
J Neuroimmunol. 2003 Jul;140(1-2):216-21. doi: 10.1016/s0165-5728(03)00208-x.
We re-evaluated the association with multiple sclerosis (MS) of the C77G splicing regulatory variation in the CD45 gene and screened for new mutations the three alternatively spliced exons (#4, 5 and 6). No association with C77G was detected in two groups of patients (total=448) and controls (total=559) from Northern and Southern Italy. When excluding the first published study indicating a positive association, a meta-analysis of the five further studies conducted to date (including the present one) led to a non-significant combined odds ratio (OR) of 1.11. None of the four newly identified nucleotide substitutions, namely C77T (Pro59Pro) in exon 4, G69C (Asp121His) in exon 5, T127A (Ile187Asn) and A138G (Thr191Ala) in exon 6, was significantly associated to MS.
我们重新评估了CD45基因中C77G剪接调控变异与多发性硬化症（MS）的关联，并对三个可变剪接外显子（#4、5和6）进行了新突变筛查。在来自意大利北部和南部的两组患者（共448例）和对照组（共559例）中，未检测到与C77G的关联。排除首次发表的表明存在正相关的研究后，对迄今进行的另外五项研究（包括本研究）进行的荟萃分析得出的合并优势比（OR）为1.11，无统计学意义。新发现的四个核苷酸替换，即外显子4中的C77T（Pro59Pro）、外显子5中的G69C（Asp121His）、外显子6中的T127A（Ile187Asn）和A138G（Thr191Ala），均与MS无显著关联。
