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多发性硬化症中与自身免疫性疾病相关的白细胞介素12B和白细胞介素23受体基因多态性

The autoimmune disease-associated IL12B and IL23R polymorphisms in multiple sclerosis.

作者信息

Begovich Ann B, Chang Monica, Caillier Stacy J, Lew David, Catanese Joseph J, Wang Joanne, Hauser Stephen L, Oksenberg Jorge R

机构信息

Celera, Alameda, CA, USA.

出版信息

Hum Immunol. 2007 Nov;68(11):934-7. doi: 10.1016/j.humimm.2007.09.005. Epub 2007 Oct 8.

Abstract

Recently published genetic studies in psoriasis, inflammatory bowel disease, and ankylosing spondylitis identified significant associations with IL12B and IL23R polymorphisms. An important role for the IL-12/IL-23 pathway in multiple sclerosis (MS) is supported by immunologic studies in patients and animal models. To determine whether IL12B/IL23R disease-associated polymorphisms play a role in susceptibility to MS, we genotyped 910 MS-nuclear families, totaling 3132 individuals. Family-based association analysis was performed. There was no evidence of transmission distortion of any of the tested alleles in this data set.

摘要

最近发表的关于银屑病、炎症性肠病和强直性脊柱炎的基因研究发现,这些疾病与IL12B和IL23R基因多态性存在显著关联。对患者和动物模型的免疫学研究支持了IL-12/IL-23通路在多发性硬化症(MS)中发挥的重要作用。为了确定IL12B/IL23R疾病相关基因多态性是否在MS易感性中起作用,我们对910个MS核心家庭(共3132人)进行了基因分型,并进行了基于家庭的关联分析。在该数据集中,没有证据表明任何测试等位基因存在传递失真。

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