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. 2025 Feb;13(1):e70040.
doi: 10.1002/prp2.70040.

The N-Acetyltransferase 2 Polymorphism and Susceptibility to Inflammatory Bowel Disease: A Case-Control Study

Pawel Petryszyn  1 , Grzegorz Zurakowski  1 , Robert Dudkowiak  2   3 , Marta Machowska  1 , Agnieszka Gruca  1 , Pawel Ekk-Cierniakowski  4 , Jadwiga Skretkowicz  5 , Elzbieta Poniewierka  2 , Anna Wiela-Hojenska  1 , Krystyna Glowacka  1
Affiliations

The N-Acetyltransferase 2 Polymorphism and Susceptibility to Inflammatory Bowel Disease: A Case-Control Study

Pawel Petryszyn et al. Pharmacol Res Perspect. 2025 Feb.

Abstract

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 NAT2*5 allele had a greater chance of developing Crohn's disease (CD) (OR = 1.73, 95% CI 1.06-2.83). Also, the NAT2*4/5 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.

Keywords: Crohn disease; acetyltransferases; genetic polymorphism; inflammatory bowel diseases; sulfasalazine.

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Conflict of interest statement

Paweł Petryszyn is employed by AstraZeneca, but the present study was not influenced nor funded by AZ at any stage. All other authors declare that they have no conflicts of interest.

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