19号染色体长臂13区在多发性硬化易感性中的随访研究。
A follow-up study of chromosome 19q13 in multiple sclerosis susceptibility.
作者信息
Bonetti Alessandro, Koivisto Keijo, Pirttilä Tuula, Elovaara Irina, Reunanen Mauri, Laaksonen Mikko, Ruutiainen Juhani, Peltonen Leena, Rantamäki Terhi, Tienari Pentti J
机构信息
Molecular Neuroscience Programme, Biomedicum-Helsinki, University of Helsinki, Helsinki University Central Hospital, Helsinki, Finland.
出版信息
J Neuroimmunol. 2009 Mar 31;208(1-2):119-24. doi: 10.1016/j.jneuroim.2009.01.003. Epub 2009 Feb 4.
A possible role of allelic variation on chromosome 19q13 in multiple sclerosis (MS) susceptibility has been suggested. We tested association of sixteen 19q13 markers with MS in 459 families. Nominally significant associations were tested in an independent set of 323 families as well as in the pooled set of 782 families. We were not able to confirm previously suggested associations with APOE, GIPR, ZNF45, ILT6 and D19S585. In the screening dataset nominally significant associations were found with D19S867 and with APOE haplotype (p=0.007 in both), but these were not replicated in the independent dataset nor in the pooled analysis of 757 families. Thus, we were not able to detect any statistically significant allelic associations. Re-sequencing based approaches may be required for elucidating the role chromosome 19q13 with MS.
已有研究表明，19号染色体长臂1区3带（19q13）的等位基因变异可能在多发性硬化症（MS）易感性中发挥作用。我们在459个家庭中测试了16个19q13标记与MS的关联性。在另一组独立的323个家庭以及782个家庭的合并样本中，对名义上显著的关联性进行了检验。我们未能证实先前提出的与载脂蛋白E（APOE）、胃抑制多肽受体（GIPR）、锌指蛋白45（ZNF45）、免疫球蛋白样转录物6（ILT6）和D19S585的关联性。在筛查数据集中，发现与D19S867以及APOE单倍型存在名义上显著的关联性（两者p值均为0.007），但在独立数据集中以及对757个家庭的合并分析中均未得到重复验证。因此，我们未能检测到任何具有统计学显著性的等位基因关联性。可能需要采用基于重测序的方法来阐明19q13染色体在MS中的作用。
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