澳大利亚人群中肿瘤坏死因子-α-857C与炎症性肠病的关联。
Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population.
作者信息
O'Callaghan N J, Adams K E, van Heel D A, Cavanaugh J A
机构信息
John Curtin School of Medical Research, ANU, Canberra, Australia.
出版信息
Scand J Gastroenterol. 2003 May;38(5):533-4.
BACKGROUND
It is now well established that susceptibility to inflammatory bowel disease is in part genetic, with one localization on chromosome 6 (IBD3) having been replicated in a number of populations. A candidate in that region, TNF-alpha, contains polymorphisms in the promoter region that appear to be associated with disease.
METHODS
More than 600 individuals from 170 multiplex IBD families were genotyped for four polymorphisms in the TNF-alpha gene and analysed for association.
RESULTS AND CONCLUSION
A strong association was observed between transmission of the -857 C allele and disease. This effect was strongest in those families in which the NOD2 risk alleles are also segregating, supporting the existence of an interaction between IBD3 and IBD1 on chromosome 16.
背景
目前已充分证实，炎症性肠病的易感性部分是由遗传因素决定的，其中位于6号染色体上的一个区域（IBD3）已在多个群体中得到复制。该区域的一个候选基因肿瘤坏死因子-α（TNF-α），其启动子区域存在多态性，似乎与疾病相关。
方法
对来自170个多发型炎症性肠病家庭的600多名个体进行TNF-α基因的4种多态性基因分型，并分析其关联性。
结果与结论
观察到-857 C等位基因的传递与疾病之间存在强关联。在那些NOD2风险等位基因也在分离的家庭中，这种效应最为明显，这支持了16号染色体上IBD3和IBD1之间存在相互作用。
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