High penetrance of acute intermittent porphyria in a Spanish founder mutation population and CYP2D6 genotype as a susceptibility factor

Table 3 Cytochrome P450 genotype distributions and MAIP frequency by genotype

Gene	Genotype	Genotype distribution		MAIP frequency
Gene	Genotype	N	%	%	OR	CI 95%	P value
CYP2C9	two normal alleles	27	54	55.6	0.45	0.17–1.09	0.092
	one allele 2 or 3	17	34	58.8
	two alleles 2 or 3	6	12	16.7
CYP2C19	two normal alleles	35	70	48.6	1.75	0.49–6.81	0.398
	one allele *2	15	30	60.0
	two alleles *2	0	0	–
CYP2D6	two normal alleles	38	76	60.5	0.2	0.04–0.81	0.037
	one allele 4 or 5	11	22	27.3
	two alleles 4 or 5	1	2	0
CYP3A4	two normal alleles	47	94	51.1	1.94	0.14–49.63	0.629
	one allele *1B	3	6	66.7
	two alleles *1B	0	0	–
CYP3A5	two normal alleles	0	0	–	0.67	0.07–5.02	0.697
	one allele *3	5	10	60.0
	two alleles *3	45	90	51.1

OR Odds ratio adjusted for age and sex, CI 95% 95% confidence interval for OR, MAIP manifest AIP

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