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No evidence of association of the rare nsSNP rs35667974 in IFIH1 with multiple sclerosis.

机译:没有证据表明IFIH1中罕见的nsSNP rs35667974与多发性硬化症相关。

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摘要

Studies suggest that different autoimmune diseases share a common genetic background, in particular, an overlap between Multiple Sclerosis (MS) and type 1 diabetes (T1D) susceptibility loci has been established. A recent study found that four rare SNPs in the IFIH1 (interferon induced with helicase C domain 1) were significantly associated with T1D. To establish if these SNPs were also involved in MS susceptibility, we chose to examine the non-synonymous SNP rs35667974/Ile923Val which displayed the strongest effect in T1D and was also shown to lead to a loss of IFIH1 function in an in vitro study. We have performed the first association study to test if this rare variant is involved in MS susceptibility in a very large sample consisting of 3037 MS patients and 10,657 healthy controls recruited from Italy and the UK. This study has 99% power to demonstrate an association at the 5% level with this rare variant. Our analysis shows that the nsSNP rs35667974/Ile923Val does not have a role in susceptibility to MS.
机译:研究表明,不同的自身免疫性疾病具有共同的遗传背景,特别是多发性硬化症(MS)与1型糖尿病(T1D)易感基因座之间已经建立了重叠。最近的一项研究发现,IFIH1(解旋酶C结构域1诱导的干扰素)中的四个罕见SNP与T1D显着相关。为了确定这些SNP是否也与MS易感性有关,我们选择检查非同义SNP rs35667974 / Ile923Val,它们在T1D中显示出最强的作用,并且在体外研究中还显示导致IFIH1功能丧失。我们已经进行了首次关联研究,以测试这种稀有变体是否与从意大利和英国招募的3037名MS患者和10,657名健康对照组成的大量样本中的MS易感性有关。这项研究具有99%的功效,可以证明与这种罕见变异在5%的水平相关。我们的分析表明,nsSNP rs35667974 / Ile923Val对MS的易感性没有作用。

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