Machida Haruhisa, Tsukamoto Kazuhiro, Wen Chun-Yang, Shikuwa Saburou, Isomoto Hajime, Mizuta Yohei, Takeshima Fuminao, Murase Kunihiko, Matsumoto Naomichi, Murata Ikuo, Kohno Shigeru, Wen Chen-Yang
Second Department of Internal Medicine, Nagasaki University School of Medicine, 1-7-1 Sakamoto, Nagasaki 852-8501, Japan.
World J Gastroenterol. 2005 Aug 21;11(31):4833-7. doi: 10.3748/wjg.v11.i31.4833.
To investigate the frequency and distribution of N-acetyltransferase 2 (NAT2) and uridine 5'-diphosphate (UDP)-glucuronosyltransferase 1A7 (UGT1A7) genes in patients with ulcerative colitis (UC) and Crohn's disease (CD).
Frequencies and distributions of NAT2 and UGT1A7 SNPs as well as their haplotypes were investigated in 95 patients with UC, 60 patients with CD, and 200 gender-matched, unrelated, healthy, control volunteers by PCR-restriction fragment length polymorphism (RFLP), PCR-denaturing high-performance liquid chromatography (DHPLC), and direct DNA sequencing.
Multiple logistic regression analysis revealed that the frequency of haplotype, NAT2*7B, significantly increased in CD patients, compared to that in controls (P = 0.0130, OR = 2.802, 95%CI = 1.243-6.316). However, there was no association between NAT2 haplotypes and UC, or between any UGT1A7 haplotypes and inflammatory bowel disease (IBD).
It is likely that the NAT2 gene is one of the determinants for CD in Japanese. Alternatively, a new CD determinant may exist in the 8p22 region, where NAT2 is located.
研究溃疡性结肠炎（UC）和克罗恩病（CD）患者中N - 乙酰基转移酶2（NAT2）和尿苷5'-二磷酸（UDP）-葡糖醛酸基转移酶1A7（UGT1A7）基因的频率和分布情况。
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）、聚合酶链反应-变性高效液相色谱法（PCR-DHPLC）和直接DNA测序法，对95例UC患者、60例CD患者以及200名性别匹配、无亲缘关系、健康的对照志愿者的NAT2和UGT1A7单核苷酸多态性（SNP）及其单倍型的频率和分布情况进行研究。
多因素logistic回归分析显示，与对照组相比，CD患者中单倍型NAT2*7B的频率显著增加（P = 0.0130，OR = 2.802，95%可信区间[CI] = 1.243 - 6.316）。然而，NAT2单倍型与UC之间、任何UGT1A7单倍型与炎症性肠病（IBD）之间均无关联。
NAT2基因可能是日本人患CD的决定因素之一。另外，在NAT2所在的8p22区域可能存在一个新的CD决定因素。
