Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients
Genetic polymorphisms of osteopontin in association with multiple sclerosis in Japanese patients
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DOI：
10.1016/s0165-5728(03)00004-3
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发表时间：
2003-03-01
影响因子：
3.3
通讯作者：
Tashiro, K
中科院分区：
文献类型：
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作者：
Niino, M;Kikuchi, S;Tashiro, K
骨桥蛋白(OPN)具有多种功能，在多发性硬化(MS)患者脑中存在丰富的OPN转录本。为探讨骨桥蛋白(OPN)基因在MS发病机制中的作用，采用聚合酶链式反应-限制性片段长度多态性方法检测了116例日本MS患者和124例正常对照的OPN基因第8090、9250和9583位的多态性。MS组外显子6第8090位C/C等位基因频率高于对照组(p<；0.0001)，C等位基因频率高于对照组(p<；0.0001，OR=2.57，95%CI=1.65~4.00)。对于外显子7的9583位多态，G/G基因型患者(年龄32.1+/-12.5岁，平均+/-S.D.)与G/A(年龄25.9+/-7.8岁，p=0.01)和A/A(年龄25.2+/-8.9岁，p=0.01)两种基因型相比，发病时间较晚。OPN基因多态性与疾病进展无明显相关性。我们的结果提示第8090位多态可能与MS的易感性有关，而9583位多态可能与MS(C)2003 Elsevier Science B.V.的发病年龄有关。
Osteopontin (OPN) exhibits pleiotropic functions and abundant transcripts for OPN are present in brains of patients with multiple sclerosis (MS). The aim of this study was to investigate the role of OPN genes in the pathogenesis of MS. Polymorphisms at the 8090th, 9250th and 9583rd positions in OPN were detected by PCR-RFLP from DNAs of 116 MS Japanese patients and 124 healthy controls. The C/C genotype at the 8090th position in exon 6 was more prevalent in MS than in control (p < 0.0001), and C allele was more prevalent in MS than in control (p < 0.0001, OR = 2.57, 95% CI = 1.65-4.00). For the 9583rd position polymorphism in exon 7, patients with G/G genotype (age; 32.1 +/- 12.5 years, mean +/- S.D.) showed a later disease onset than G/A (age; 25.9 +/- 7.8 years,p = 0.01) and A/A (age; 25.2 +/- 8.9 years, p = 0.01) genotypes. There were no significant correlations between OPN gene polymorphisms and disease progression. Our results suggest that the 8090th polymorphism might be associated with susceptibility to MS, while the 9583rd polymorphism might be associated with age of onset of MS. (C) 2003 Elsevier Science B.V. All rights reserved.