Association of multiple sclerosis with ILT6 deficiency
Association of multiple sclerosis with ILT6 deficiency
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DOI：
10.1038/sj.gene.6364187
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发表时间：
2005-08-01
影响因子：
5
通讯作者：
Witte, T
中科院分区：
文献类型：
--
作者：
Koch, S;Goedde, R;Witte, T
多发性硬化症（MS）是一种多因素病因的自身免疫性疾病。家庭研究显示出强大的遗传贡献。连锁分析揭示了几个含有风险基因的区域，包括染色体区域 19q13。 ILT6 是最有趣的候选基因之一，因为 ILT 参与免疫耐受的产生。包含多个外显子的 ILT6 基因存在/不存在变异性，从而使基因功能丧失。在本研究中，我们检查了 ILT6 缺失与 MS 的关联。通过 PCR 分型，对 607 名献血者、751 名德国白人以及 89 名法国多发性硬化症患者进行了 ILT6 缺陷检查。纯合子 ILT6 缺陷在多发性硬化症患者中 (7.1%) 明显高于献血者 (3.8%；P < 0.009)。 ILT6 缺乏与德国人群中的 MS 相关，因此可能是自身免疫性疾病的危险因素。
Multiple sclerosis ( MS) is an autoimmune disorder of multifactorial etiology. Family studies have shown strong genetic contributions. Linkage analyses have revealed several regions harboring risk genes including chromosome region 19q13. ILT6 is one of the most interesting candidate genes, since ILTs are involved in the generation of immunological tolerance. There is an absence/presence of variability of the ILT6 gene comprising several exons, thus incapacitating the gene function. In the present study, we examined the association of ILT6 deletion with MS. Using PCR typing, deficiency of ILT6 was examined in 607 blood donors and in 751 Caucasian German, as well as 89 French MS patients. Homozygous ILT6 deficiencies were significantly more prevalent in MS patients ( 7.1%) than in blood donors ( 3.8%; P 0.009). ILT6 deficiency is associated with MS in the German population and hence a likely risk factor for autoimmune disorders.