Morgan A R, Han D Y, Huebner C, Lam W J, Fraser A G, Ferguson L R
Discipline of Nutrition, Faculty of Medical and Health Sciences, The University of Auckland, Auckland, New Zealand.
Tissue Antigens. 2010 Aug;76(2):119-25. doi: 10.1111/j.1399-0039.2010.01493.x. Epub 2010 Apr 13.
Recent genome-wide association studies have provided evidence for the involvement of the genes PTPN2 and PTPN22 in the pathogenesis of Crohn's disease (CD). We investigated whether genetic variants in these genes were associated with CD in a New Zealand population. Single-nucleotide polymorphisms (SNPs) rs2542151 (PTPN2) and rs2476601 (PTPN22) were genotyped in 315 CD cases and 481 controls. In this sample, we were able to confirm an association between CD and PTPN2 (genotypic P = 0.019 and allelic P = 0.011), and phenotypic analysis showed an association of this SNP with late age at first diagnosis, inflammatory and penetrating CD behaviour, requirement of bowel resection and being a smoker at diagnosis. There was no evidence for an association with PTPN22.
近期全基因组关联研究为蛋白酪氨酸磷酸酶非受体型2（PTPN2）和蛋白酪氨酸磷酸酶非受体型22（PTPN22）基因参与克罗恩病（CD）的发病机制提供了证据。我们研究了这些基因中的遗传变异与新西兰人群中CD的相关性。对315例CD患者和481例对照进行了单核苷酸多态性（SNP）rs2542151（PTPN2）和rs2476601（PTPN22）的基因分型。在该样本中，我们能够证实CD与PTPN2之间存在关联（基因型P = 0.019，等位基因P = 0.011），并且表型分析显示该SNP与首次诊断时年龄较大、炎症性和穿透性CD行为、肠道切除需求以及诊断时吸烟有关。没有证据表明与PTPN22存在关联。
