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白细胞介素2受体α链基因座等位基因增加中国南方汉族人群视神经脊髓炎风险。

IL2RA Allele Increases Risk of Neuromyelitis Optica in Southern Han Chinese.

作者信息

Dai Yongqiang, Li Jin, Zhong Xiaonan, Wang Yuge, Qiu Wei, Lu Zhengqi, Wu Aimin, Bao Jian, Peng Fuhua, Hu Xueqiang

出版信息

Can J Neurol Sci. 2013 Nov;40(6):832-5. doi: 10.1017/s0317167100015973.

Abstract

BACKGROUND

Neuromyelitis optica (NMO) and multiple sclerosis (MS) are chronic neuro-inflammatory diseases believed to arise from complex interactions between environmental and genetic factors. Recently, single nucleotide polymorphisms (SNPs) in interleukin (IL)-2 and -7 receptor alpha genes have been identified as novel susceptibility alleles for MS in genome-wide association studies. However, similar research on NMO is limited. We aimed to investigate the association of IL2RA SNPs rs2104286 and rs12722489 and IL7RA SNP rs6897932 with Southern Han Chinese NMO and MS patients.

METHODS

Frequencies of the three SNPs were examined in Southern Han Chinese mS cases (n=78), NMS cases (n=67) and controls (n=133) using sequencing-based typing.

RESULTS

The rs2104286(G) frequency in the IL2RA gene was significantly higher in NMO patients than in controls (p(uncorr)=0.013, p(corr)=0.026, OR:1.942, 95%CI:1.146-3.291).

CONCLUSION

The rs2104286 G allele in IL2RA is present at higher frequencies in NMO patients than in healthy controls within a Southern Han Chinese population.

UNLABELLED

Les allèles IL2RA augmentent le risque de neuromyélite optique chez les Chinois Han du sud.

摘要

背景

视神经脊髓炎(NMO)和多发性硬化症(MS)是慢性神经炎症性疾病,被认为是由环境因素和遗传因素之间的复杂相互作用引起的。最近,在全基因组关联研究中,白细胞介素(IL)-2和-7受体α基因中的单核苷酸多态性(SNP)已被确定为MS的新型易感等位基因。然而,关于NMO的类似研究有限。我们旨在研究IL2RA SNP rs2104286和rs12722489以及IL7RA SNP rs6897932与中国南方汉族NMO和MS患者的关联。

方法

使用基于测序的分型方法,检测中国南方汉族MS患者(n = 78)、NMO患者(n = 67)和对照组(n = 133)中这三个SNP的频率。

结果

IL2RA基因中的rs2104286(G)频率在NMO患者中显著高于对照组(p(未校正)= 0.013,p(校正)= 0.026,OR:1.942,95%CI:1.146 - 3.291)。

结论

在南方汉族人群中,NMO患者中IL2RA基因的rs2104286 G等位基因频率高于健康对照组。

未标记

IL2RA等位基因增加了中国南方汉族患视神经脊髓炎的风险。

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