RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis
RAR-related orphan receptor A (RORA): A new susceptibility gene for multiple sclerosis
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DOI：
10.1016/j.jns.2016.08.045
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发表时间：
2016-10-15
影响因子：
4.4
通讯作者：
Mirfakhraie, Reza
中科院分区：
文献类型：
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作者：
Eftekharian, Mohammad Mahdi;Noroozi, Rezvan;Mirfakhraie, Reza
视黄酸受体相关的孤儿受体 α (RORA) 被认为可以促进 Th17 细胞分化，在包括多发性硬化症 (MS) 在内的许多炎症性疾病中发挥至关重要的作用。该基因还参与炎症反应和神经细胞发育的调节。本研究的目的是确定RORA rs11639084和rs4774388基因多态性与个体对多发性硬化症的易感性之间是否存在任何关系。 410 名临床明确的多发性硬化症患者和 500 名种族匹配的健康对照者参与了这项研究。采用四引物扩增难治性突变系统-PCR（4P-ARMS-PCR）方法对RORA基因中提到的多态性进行基因分型。两种变体在研究组之间的等位基因和基因型分布上均表现出显着差异。基因型与附加风险相关（P 值为 0.0003，比值比等于 1.7（95% CI：1.27-2.26））、显性风险（P 值为
Retinoic acid receptor-related orphan receptor alpha (RORA) is proposed to promote Th17 cells differentiation that play a crucial role in many inflammatory diseases, including multiple sclerosis (MS). The gene is also involved in regulation of inflammatory responses and neuronal cell development. The aim of the present study is to determine if any relation exists between RORA rs11639084 and rs4774388 gene polymorphisms on the individual susceptibility of multiple sclerosis. 410 patients with clinically definite MS and 500 ethnically-matched healthy controls participated in this study. Genotyping was performed using tetra primer-amplification refractory mutation system-PCR (4P-ARMS-PCR) method for the mentioned polymorphisms in the RORA gene. Both variants showed significant differences in allele and genotype distributions between the studied groups. Genotypes were risk associated in additive (P-value of 0.0003 and odds ratio equal to 1.7 (95% CI: 1.27-2.26)), dominant (P-value of