Petryszyn Pawel, Zurakowski Grzegorz, Dudkowiak Robert, Machowska Marta, Gruca Agnieszka, Ekk-Cierniakowski Pawel, Skretkowicz Jadwiga, Poniewierka Elzbieta, Wiela-Hojenska Anna, Glowacka Krystyna
Department of Clinical Pharmacology, Wroclaw Medical University, Wroclaw, Poland.
Department of Gastroenterology and Hepatology, Wroclaw Medical University, Wroclaw, Poland.
Pharmacol Res Perspect. 2025 Feb;13(1):e70040. doi: 10.1002/prp2.70040.
The enzyme N-acetyltransferase 2 (NAT2) plays an important role in metabolism and detoxification of xenobiotics, including carcinogens and medications. We aimed to assess the contribution of the NAT2 polymorphism to susceptibility to inflammatory bowel disease (IBD) in the Polish population. The study involved 101 IBD patients and 100 healthy controls. The NAT2 gene mutations at positions 481T, 803G, 590A, and 857A were identified using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique on peripheral blood DNA samples. Carriers of the NAT25 allele had a greater chance of developing Crohn's disease (CD) (OR = 1.73, 95% CI 1.06-2.83). Also, the NAT24/5 genotype was more prevalent in CD patients (OR = 2.77, 95% CI 1.17-6.57). When compared to the control group, the prevalence of the NAT2*4/6 genotype in the IBD patient population was significantly lower (10.9% vs. 30.0%, p < 0.01). In the Polish population, polymorphism in the NAT2 gene may potentially alter susceptibility to IBD.
N-乙酰基转移酶2（NAT2）在包括致癌物和药物在内的外源性物质的代谢及解毒过程中发挥着重要作用。我们旨在评估NAT2基因多态性对波兰人群炎性肠病（IBD）易感性的影响。该研究纳入了101例IBD患者和100名健康对照。运用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）技术，对外周血DNA样本进行检测，以识别NAT2基因在481T、803G、590A和857A位点的突变情况。NAT25等位基因携带者患克罗恩病（CD）的几率更高（比值比[OR]=1.73，95%置信区间[CI]为1.06-2.83）。此外，NAT24/5基因型在CD患者中更为常见（OR=2.77，95%CI为1.17-6.57）。与对照组相比，IBD患者群体中NAT2*4/6基因型的患病率显著更低（10.9%对30.0%，p<0.01）。在波兰人群中，NAT2基因的多态性可能会改变IBD的易感性。
