N-acetyltransferase 2 (NAT2) gene polymorphisms in colon and lung cancer patients

BMC Medical Genetics

Table 2 NAT2 genotypes in controls and lung cancer patients

Genotypes			Deduced phenotypes	Controls	Lung cancer	Total	Odds ratios (95% confidence interval)²
c.481 C>T	c.590 G>A	c.857 G>A		n = 243	n = 67	n = 310
CC	GG	GG	rapid	5.3% (13)	7.5% (5)	5.8% (18)	reference
CT			rapid	23.0% (56)	13.4% (9)	21.0% (65)	0.42 (0.12–1.46)
	GA		rapid	8.6% (21)	20.9% (14)	11.3% (35)	1.73 (0.50–5.95)
		GA	rapid	0.4% (1)	0	0.3% (1)
TT			slow¹	22.2% (54)	13.4% (9)	20.3% (63)	0.43 (0.12–1.51)
	AA		slow	9.5% (23)	0	7.4% (23)
		AA	slow	0	0	0
	AA	GA	slow	4.1% (10)	0	3.2% (10)
CT	GA		slow	23.9% (58)	38.8% (26)	27.1% (84)	1.17 (0.38–3.60)
CT		GA	slow	2.5% (6)	4.5% (3)	2.8% (9)	1.30 (0.23–7.31)
	GA	GA	slow	0.4% (1)	1.4% (1)	0.6% (2)	2.60 (0.14–50.04)

¹c.481C>T is a silent mutation associated also with NAT*12C (c.481C>T+ c.803A>G) which is a rapid allele (see Hein et al. 2000, [1])
² For the calculation of ORs for individual genotypes, NAT2*4/*4 [c. 481CC + c.590 GG + c.857 GG] was used as reference and all corresponding odds ratios were determined with respect to this reference.

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