NOD2: Ethnic and geographic differences

进在与危险性联系到 Crohn 的疾病的 NOD2 的三风险等位基因 R702W， G908R 和 1007fsInsC 的继承的调查例如越过种族和人口表明了异质的显著数量，与越过欧洲的地区性的变化，建议本地创始人效果。在非白种人人口， Crohn 的疾病继续在发生增加，但是这增加看起来不是在 NOD2 的变化的后果，进一步为另外的危险性部位推进积累的证据。已知的等位基因的频率处于健康和疾病越过人口被比较，为在 NOD2 的另外的等位基因的证据被考察。在染色体 16 上基于它的位置与一些另外的自体免疫的疾病危险性本地化重合，研究作为另外的自体免疫的混乱的潜在的原因指向了 NOD2 变化。当这些调查主要归还了否定调查结果，二疾病对主人疾病时，被显示了被风险等位基因在 NOD2 引起。这在复杂疾病调查是经常的，一些结果等候 NOD2 和差别的确认，而是鉴定在以内并且越过人口加薪关于在这个地点的变化的人口遗传的吸引人的问题。

Investigations into the inheritance of the three risk alleles R702W, G908R and 1007 fsInsC 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 nonCaucasian 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 Iocalizations, 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 Host Disease, 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.