School of Pathology and Laboratory Medicine, M504, University of Western Australia, Stirling Highway, Nedlands 6009, Perth, Australia.
J Neuroimmunol. 2012 Sep 15;250(1-2):66-70. doi: 10.1016/j.jneuroim.2012.04.021. Epub 2012 Jun 23.
The NOTCH4 gene, located within the MHC region, is involved in cellular differentiation and has varying effects dependent on tissue type. Coding region polymorphisms haplotypic of the sIBM-associated 8.1 ancestral haplotype were identified in NOTCH4 and genotyped in two different Caucasian sIBM cohorts. In both cohorts the frequency of the minor allele of rs422951 and the 12-repeat variation for rs72555375 was increased and was higher than the frequency of the sIBM-associated allele HLA-DRB1*0301. These NOTCH4 polymorphisms can be considered to be markers for sIBM susceptibility, but require further investigation to determine whether they are directly involved in the disease pathogenesis.
NOTCH4 基因位于 MHC 区域内，参与细胞分化，其作用因组织类型而异。在 NOTCH4 中鉴定出与 sIBM 相关的 8.1 祖先单倍型的编码区多态性单倍型，并在两个不同的高加索 sIBM 队列中进行了基因分型。在两个队列中，rs422951 的次要等位基因和 rs72555375 的 12 重复变异的频率增加，且高于 sIBM 相关等位基因 HLA-DRB1*0301 的频率。这些 NOTCH4 多态性可以被认为是 sIBM 易感性的标志物，但需要进一步研究以确定它们是否直接参与疾病的发病机制。
