CD45 77C/G等位基因与重症肌无力无关——对CD45在自身免疫中潜在作用的重新评估。
The CD45 77C/G allele is not associated with myasthenia gravis - a reassessment of the potential role of CD45 in autoimmunity.
作者信息
Ramanujam Ryan, Pirskanen Ritva, Hammarström Lennart
机构信息
Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institutet at Karolinska University Hospital Huddinge, SE-141 86 Stockholm, Sweden.
出版信息
BMC Res Notes. 2010 Nov 10;3:292. doi: 10.1186/1756-0500-3-292.
BACKGROUND
The G allele of the CD45 77C/G SNP (rs17612648), which has previously been suggested to be associated with autoimmune disorders, was genotyped in 446 Swedish myasthenia gravis (MG) patients and 2303 matched controls.
RESULTS
There was no association between the polymorphism and patient group as a whole (p = 0.199), nor with clinical subgroups. Our results add to a growing number of studies unable to find association between the 77C/G polymorphism and autoimmune disorders. One control sample, from an adult blood donor, was homozygous for the G allele, yet negative for a panel of auto-antibodies, representing the first homozygous individual studied in this respect.
CONCLUSIONS
The 77C/G mutation does not predispose to MG, and its role in autoimmunity may have to be re-evaluated.
背景
CD45 77C/G单核苷酸多态性（rs17612648）的G等位基因，此前曾被认为与自身免疫性疾病有关，在446例瑞典重症肌无力（MG）患者和2303例匹配对照中进行了基因分型。
结果
该多态性与整个患者组之间无关联（p = 0.199），与临床亚组也无关联。我们的结果进一步增加了越来越多无法发现77C/G多态性与自身免疫性疾病之间关联的研究。一个来自成年献血者的对照样本，G等位基因为纯合子，但一组自身抗体检测为阴性，这是在这方面研究的首个纯合个体。
结论
77C/G突变不会导致重症肌无力，其在自身免疫中的作用可能需要重新评估。
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