NRAMP1 (SLC11A1) Variants: Genetic Susceptibility to Multiple Sclerosis

NRAMP1 (SLC11A1) Variants: Genetic Susceptibility to Multiple Sclerosis
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DOI:
10.1007/s10875-010-9422-5
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发表时间:
2010-07-01
影响因子:
9.1
通讯作者:
Karaer, Hatice
Karaer, Hatice
中科院分区:
医学2区
文献类型:
--
作者:
Ates, Omer;Kurt, Semiha;Karaer, Hatice

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多发性硬化(MS)是一种炎症性、自身免疫性中枢神经系统脱髓鞘疾病。人类自然抵抗相关巨噬细胞蛋白1(NRAMP1)基因多态性与免疫介导性疾病的易感性有关。为探讨NRAMP1基因与MS易感性的关系,采用扩增难扩增突变系统-聚合酶链式反应和序列分析的方法,对100例MS患者和104例健康体检者进行了NRAMP1基因(GT)(n,)INT4,3‘UTR和D543N基因多态性分析。未发现NRAMP1基因(GT)(n,)INT4,3’UTR和D543N与MS易感性相关,也未发现NRAMP1基因多态与MS临床表现相关。
Multiple sclerosis (MS) is an inflammatory, autoimmune demyelinating disease of the central nervous system. Human Natural Resistance Associated Macrophage Protein 1 (NRAMP1) gene polymorphisms have been implicated in the immune mediated diseases susceptibility. This study aimed to investigate the plausible association between NRAMP1 gene and MS susceptibility.We analyzed (GT)(n,) INT4, 3'UTR and D543N polymorphisms of NRAMP1 gene in 100 MS patients and 104 healthy subjects by using amplification refractory mutation system-polymerase chain reaction and sequence analysis.No significant association was found between (GT)(n,) INT4, 3'UTR and D543N polymorphisms and MS. There was also no correlation between NRAMP1 polymorphisms and MS clinical forms.Our findings suggest that NRAMP1 polymorphisms do not play a role in MS susceptibility and clinical finding of MS in Turkish patients.