日本多发性硬化症患者血小板活化因子受体基因多态性
Platelet-activating factor receptor gene polymorphism in Japanese patients with multiple sclerosis.
作者信息
Osoegawa Manabu, Miyagishi Ryuji, Ochi Hirofumi, Nakamura Itta, Niino Masaaki, Kikuchi Seiji, Murai Hiroyuki, Fukazawa Toshiyuki, Minohara Motozumi, Tashiro Kunio, Kira Jun-Ichi
机构信息
Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University, Fukuoka 812-8582, Japan.
出版信息
J Neuroimmunol. 2005 Apr;161(1-2):195-8. doi: 10.1016/j.jneuroim.2004.12.014.
We evaluated the association of the platelet-activating factor receptor (PAFR) gene polymorphism (A224D) with the susceptibility and severity of multiple sclerosis (MS) in a Japanese population. DNA was collected from 162 Japanese patients with clinically definite 'conventional' MS (MS) and 245 healthy controls. The missense mutation A224D that impairs PAF-PAFR signaling was determined by polymerase chain reaction restriction fragment length polymorphism. The frequency of the AD/DD genotypes was significantly higher in MS patients (21.0%) than in healthy controls (13.5%) (p=0.045; odds ratio (OR), 1.71; 95% confidence interval (CI), 1.01-2.89). Moreover, the frequency of D allele in MS patients (11.7%) was also significantly higher than those in healthy controls (6.9%) (p=0.019; OR, 1.78; 95% CI, 1.10-2.89). These findings suggest that the PAFR gene missense mutation has a relation to the susceptibility for MS.
我们评估了血小板活化因子受体（PAFR）基因多态性（A224D）与日本人群中多发性硬化症（MS）易感性及严重程度的关联。收集了162例临床确诊为“传统型”MS的日本患者及245名健康对照者的DNA。通过聚合酶链反应-限制性片段长度多态性分析确定了损害PAF-PAFR信号传导的错义突变A224D。MS患者中AD/DD基因型的频率（21.0%）显著高于健康对照者（13.5%）（p = 0.045；优势比（OR）为1.71；95%置信区间（CI）为1.01 - 2.89）。此外，MS患者中D等位基因的频率（11.7%）也显著高于健康对照者（6.9%）（p = 0.019；OR为1.78；95% CI为1.10 - 2.89）。这些发现表明PAFR基因错义突变与MS易感性有关。
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