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评估已建立的非 MHC 多发性硬化症基因座在印度人群中的作用。

Evaluation of the established non-MHC multiple sclerosis loci in an Indian population.

机构信息

Department of Neurology, KS Hegde Medical Academy, Mangalore, India.

出版信息

Mult Scler. 2011 Feb;17(2):139-43. doi: 10.1177/1352458510384011. Epub 2010 Oct 15.

Abstract

BACKGROUND

Multiple sclerosis (MS) is a chronic demyelinating neurodegenerative disorder with a strong genetic component.

OBJECTIVE

The prevalence of MS in India is low compared with white populations of Northern European descent.

METHODS

In order to ascertain whether disease susceptibility genes are the same across different populations, we completed the first investigation in the Indian MS population of 15 MS loci outside of the major histocompatibility (MHC) region that were previously identified and validated with MS susceptibility through genome-wide association and replication studies in white populations.

RESULTS

In total, 197 Indian patients and 197 unrelated controls were analyzed. The most associated single nucleotide polymorphism (SNP) within this study was rs6897932 in the IL7R gene, which showed a strong protective effect in this data set (rs 6897932, OR = 0.5543, 95% CI = 0.37-0.78, p = 0.0009727). Two other SNPs were nominally associated with MS in this dataset, namely CLEC16A rs 12708716 (p = 0.0082, OR = 1.478, 95% CI = 1.106-1.975) and CD226 rs763361 (p = 0.03971, OR = 1.353, CI = 1.014-1.805). For the majority of the remaining SNPs (7/14), the trend for association was in the same direction as in previous studies in the white population.

CONCLUSIONS

Although the power of this study was limited, our preliminary data suggest that disease susceptibility genes in MS in the Indian population may be similar to those of western populations.

摘要

背景

多发性硬化症(MS)是一种慢性脱髓鞘神经退行性疾病,具有很强的遗传成分。

目的

与北欧白种人群相比,印度的多发性硬化症发病率较低。

方法

为了确定疾病易感性基因是否在不同人群中相同,我们在印度多发性硬化症人群中完成了首次针对 15 个 MS 基因座的研究,这些基因座位于主要组织相容性复合体(MHC)区域之外,此前通过全基因组关联和在白种人群中的复制研究已确定并验证了这些基因座与 MS 易感性相关。

结果

共分析了 197 名印度患者和 197 名无关对照者。在本研究中,最相关的单核苷酸多态性(SNP)是白细胞介素 7 受体(IL7R)基因中的 rs6897932,该 SNP 在本数据集显示出很强的保护作用(rs6897932,OR=0.5543,95%CI=0.37-0.78,p=0.0009727)。在本数据集,另外两个 SNP 也与 MS 呈名义相关,即 CLEC16A rs12708716(p=0.0082,OR=1.478,95%CI=1.106-1.975)和 CD226 rs763361(p=0.03971,OR=1.353,CI=1.014-1.805)。对于其余大多数 SNP(7/14),关联的趋势与白种人群中的先前研究一致。

结论

尽管本研究的效力有限,但我们的初步数据表明,印度人群中的多发性硬化症易感性基因可能与西方人群相似。

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