Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort
Association analysis of MYO9B gene polymorphisms with celiac disease in a Swedish/Norwegian cohort
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DOI：
10.1016/j.humimm.2006.03.020
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发表时间：
2006-04-01
期刊：
影响因子：
2.7
通讯作者：
Sollid, LM
中科院分区：
文献类型：
--
作者：
Amundsen, SS;Monsuur, AJ;Sollid, LM
肌球蛋白IXB（MYO 9 B）基因变异与乳糜泻（CD）之间的关联已在荷兰队列研究中报道。MYO 9 B基因3'端的6个单核苷酸多态性（SNPs）表现出显著的遗传关联，并形成了一个相关的单倍型。目前的研究旨在在瑞典/挪威队列中复制这些发现。在CD家族数据集（n = 326）和另外一组健康对照（n = 562）中进行标记相关单倍型的三个SNP的基因分型。虽然我们的材料提供了合理的力量来检测先前观察到的关联，但我们无法复制与这些SNP的关联。重现性的缺乏可以解释为MYO 9 B对瑞典/挪威人群中CD遗传易感性的贡献可以忽略不计。或者，这可能是由于测试的SNP中不同人群中的可变连锁不平衡和尚未鉴定的致病突变或荷兰研究中的假阳性结果（1型错误）。
Association between myosin IXB (MYO9B) gene variants and celiac disease (CD) has been reported in a study of a Dutch cohort. Six single nucleotide polymorphisms (SNPs) within the 3' part of the MYO9B gene showed significant genetic association and formed an associated haplotype. The current study aimed to replicate these findings in a Swedish/Norwegian cohort. Genotyping of the three SNPs which tagged the associated haplotype was performed in a CD family dataset (n = 326) and in an additional set of healthy controls (n = 562). Although our material provided reasonable power to detect the previously observed association, we were unable to replicate association with these SNPs. Lack of reproducibility could be explained by no or negligible contribution of MYO9B to the genetic predisposition to CD in the Swedish/Norwegian population. Alternatively, it might be due to variable linkage disequilibria in distinct populations in the tested SNPs and a causative mutation yet to be identified or to false positive findings (type 1 error) in the Dutch study.