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首页> 外文期刊>World Journal of Gastroenterology >NOD2: ethnic and geographic differences.
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NOD2: ethnic and geographic differences.

机译：NOD2：种族和地理差异。

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摘要

Investigations into the inheritance of the three risk alleles R702W, G908R and 1007fsInsC in NOD2 associated with susceptibility to Crohn's disease have demonstrated a remarkable amount of heterogeneity across ethnicities and populations, with regional variation across Europe for example, suggesting local founder effects. In non-Caucasian populations Crohn's disease continues to increase in incidence but this increase appears not to be a consequence of variation in NOD2, further advancing the accumulating evidence for other susceptibility loci. Frequencies of the known alleles are compared across populations in health and disease and evidence for additional alleles in NOD2 is reviewed. Based on its position on chromosome 16 coincident with some other autoimmune disease susceptibility localizations, research has targeted NOD2 variation as the potential cause of other autoimmune disorders. While these investigations have mostly returned negative findings, two diseases, Blau Syndrome and Graft versus HostDisease, have been shown to be caused by risk alleles in NOD2. As is frequent in complex disease investigations, some results await validation, but the identification of NOD2 and the differences within and across population raises intriguing questions about the population genetics of the variation at this locus.
机译：对NOD2中三个风险等位基因R702W，G908R和1007fsInsC遗传与克罗恩病易感性的关系进行的调查显示，不同种族和人口之间存在显着的异质性，例如欧洲各地的区域差异，表明了当地创始人的影响。在非高加索人群中，克罗恩病的发病率继续增加，但是这种增加似乎不是NOD2变异的结果，从而进一步推动了其他易感基因座的积累证据。比较了健康和疾病人群中已知等位基因的频率，并审查了NOD2中其他等位基因的证据。根据其在16号染色体上的位置与其他一些自身免疫性疾病易感性定位相吻合，研究已将NOD2变异作为其他自身免疫性疾病的潜在病因。尽管这些研究大多返回了阴性结果，但已显示两种疾病，即布劳综合征和移植物抗宿主病，是由NOD2中的风险等位基因引起的。正如在复杂疾病调查中经常发生的那样，一些结果尚待验证，但是NOD2的鉴定以及种群内部和种群之间的差异提出了有关该位点变异的种群遗传学的有趣问题。

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