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.
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.
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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