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

BMC Medical Genetics

Table 1 NAT2 genotypes in controls and colon cancer patients

Genotypes			Deduced phenotypes	Controls	Colon cancer	Total	Odds ratios (95% confidence interval)²
c.481 C>T	c.590 G>A	c.857 G>A		n = 243	n = 92	n = 335
CC	GG	GG	rapid	5.4% (13)	9.8% (9)	6.6% (22)	reference
CT			rapid	23.0% (56)	18.5% (17)	21.8% (73)	0.44 (0.16–1.20)
	GA		rapid	8.6% (21)	13.0% (12)	9.9% (33)	0.83 (0.27–2.49)
		GA	rapid	0.4% (1)	2.2% (2)	0.9% (3)	2.89 (0.23–36.87)
TT			slow¹	22.2% (54)	13.0% (12)	19.7% (66)	0.32 (0.11–0.92)**
	AA		slow	9.5% (23)	13.0% (12)	10.4% (35)	0.75 (0.25–2.26)
		AA	slow	0	0	0
	AA	GA	slow	4.1% (10)	0	3.0% (10)
CT	GA		slow	23.9% (58)	29.3% (27)	25.4% (85)	0.67 (0.26–1.77)
CT		GA	slow	2.5% (6)	1.0% (1)	2.1% (7)	0.24 (0.03–2.36)
	GA	GA	slow	0.4% (1)	0	0.3% (1)

¹ c.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.
** significant.

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