Palmieri O, Latiano A, Valvano R, D'Incà R, Vecchi M, Sturniolo G C, Saibeni S, Peyvandi F, Bossa F, Zagaria C, Andriulli A, Devoto M, Annese V
Divisione di Gastroenterologia, Ospedale CSS-IRCCS, San Giovanni Rotondo, Italy.
Aliment Pharmacol Ther. 2006 Feb 15;23(4):497-506. doi: 10.1111/j.1365-2036.2006.02780.x.
Two variants in the organic cation transporter gene cluster have been recently reported to confer susceptibility to Crohn's disease (CD).
To investigate these variants in CD and ulcerative colitis (UC), and their interaction with CARD15 gene and correlation to clinical subphenotypes.
Case-control association analysis was performed in 899 patients (444 CD and 455 UC) and 611 controls. The organic cation transporter gene cluster single nucleotide polymorphisms G207G-->C and 1672C-->T, the IGR2198a_1 single nucleotide polymorphism in the IBD5 locus, and the R702W, G908R and L1007finsC variants of CARD15 gene were genotyped by ABI-7700, restriction fragment length polymorphic analysis and multiplex pyrosequencing, respectively.
The 1672TT and -207CC genotype frequencies were increased in both CD (OR = 1.5, P = 0.011; OR = 1.6, P = 0.002), and UC (OR = 1.5, P = 0.017; OR = 1.4, P = 0.033), respectively. Compared with controls, the TC haplotype frequency was increased in both CD (36% vs. 44%, P < or = 0.01) and UC (36% vs. 45%, P < or = 0.01). The frequency of the TC haplotype was 43% in CARD15-positive and 44% in CARD15-negative CD, respectively. Similar results were found in UC. In CD a significant association of the TC haplotype was found with presence of perianal fistulae (P = 0.007) and steno-fistulizing behaviour (P = 0.037). In UC, the TC haplotype was more frequent in patients with more extensive disease (P = 0.015), and those on immunosuppressives (P = 0.004).
Organic cation transporter gene cluster variants may confer susceptibility to both CD and UC, and the TC haplotype may influence some clinical features of IBD, but does not interact with CARD15 variants.
最近有报道称有机阳离子转运体基因簇中的两个变异体与克罗恩病（CD）易感性相关。
研究这些变异体在CD和溃疡性结肠炎（UC）中的情况，以及它们与CARD15基因的相互作用和与临床亚表型的相关性。
对899例患者（444例CD和455例UC）及611例对照进行病例对照关联分析。分别采用ABI - 7700、限制性片段长度多态性分析和多重焦磷酸测序对有机阳离子转运体基因簇单核苷酸多态性G207G→C和1672C→T、IBD5位点的IGR2198a_1单核苷酸多态性以及CARD15基因的R702W、G908R和L1007finsC变异体进行基因分型。
1672TT和 - 207CC基因型频率在CD（OR = 1.5，P = 0.011；OR = 1.6，P = 0.002）和UC（OR = 1.5，P = 0.017；OR = 1.4，P = 0.033）中均升高。与对照组相比，TC单倍型频率在CD（36%对44%，P≤0.01）和UC（36%对45%，P≤0.01）中均升高。在CARD15阳性的CD患者中TC单倍型频率为43%，在CARD15阴性的CD患者中为44%。UC中也发现了类似结果。在CD中，发现TC单倍型与肛周瘘管的存在（P = 0.007）和狭窄 - 瘘管形成行为（P = 0.037）显著相关。在UC中，疾病范围更广的患者（P = 0.015）和使用免疫抑制剂的患者（P = 0.004）中TC单倍型更为常见。
有机阳离子转运体基因簇变异体可能使个体对CD和UC均易感，且TC单倍型可能影响IBD的某些临床特征，但不与CARD15变异体相互作用。
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