Pharmacogenetics in inflammatory bowel disease

doi:10.3748/wjg.v12.i23.3657

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Jun 21, 2006 (publication date) through Feb 3, 2025

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World Journal of Gastroenterology

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1007-9327

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Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA

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World J Gastroenterol. Jun 21, 2006; 12(23): 3657-3667
Published online Jun 21, 2006. doi: 10.3748/wjg.v12.i23.3657

Table 1 Interpretation by PCR based methods of TPMT activity

Genotype		PCR	Risk of hematopoietictoxicity
238G/238G	1/1	238 GG	-7%
460G/460G		460 GG
719A/719A		719 AA
238G/238G	1/3A	238GG	-35%
460A/460A		460GA
719A/719G		719AG
238G/238G	1/3B	238GG	-35%
460G/460A		460GA
719A/719A		719AA
238G/238G	1/3C	238GG	-35%
460G/460G		460GG
719A/719G		719AG
238G/238G	3B/3C	238GG	-100%
460G/460G		460GG
719A/719G		719AG
238G/238G	3A/3C	238GG	-100%
460A/460G		460GA
719G/719G		719GG
238G/238G	3A/3B	238GG	-100%
460A/460A		460AA
719G/719A		719AG

Patients with *1/3A and *3A/*3C genotype have the same PCR results, however the risk to develop hematopoietic toxicity for patients with 2 low activity alleles is almost 100% compared to 35% only for heterozygous patients.

Table 2 NAT2 phenotypes and genotypes

Mutations	Allele designation	Phenotype
None	NAT2*4 (wild-type)	normal
T341C, C481T, A803G	NAT2*5B (r3,S1a)	Slow
C282T, G590A	NAT2*6A (M2)	Slow
T341C, C481T	NAT2*5A (M1)	Slow
T341C, CA803G	NAT2*5C (S1c)	Slow
C282T, G857A	NAT2*7B (M3)	Slow
C282T	NAT2*13 (S4)
G590A	NAT2*6B (R2)	Unknown
G191A	NAT2*14A (M4)	Slow
A803G	NAT2*12A	Rapid

Citation: Pierik M, Rutgeerts P, Vlietinck R, Vermeire S. Pharmacogenetics in inflammatory bowel disease. World J Gastroenterol 2006; 12(23): 3657-3667
URL: https://www.wjgnet.com/1007-9327/full/v12/i23/3657.htm
DOI: https://dx.doi.org/10.3748/wjg.v12.i23.3657