CYP1A2*1F and GSTM1 Alleles Are Associated with Susceptibility to Porphyria Cutanea Tarda

Table 1 Cytochrome P450 (CYP) and glutathione-S-Transferase (GST) allele and genotype frequencies in patients with porphyria cutanea tarda (PCT) and matched controls. Gene symbols in addition to traditional allelic designations and reference SNP identification numbers are provided.

	PCT patients							Controls
					Genotype frequency						Genotype frequency
CYP gene variant	PCT subtype	N^a	% Male	% Common allele	C/C^b	C/R	R/R	N	% Male	% Common allele	C/C	C/R	R/R
CYP1A12A* (m1, rs4646903)	1 & 2	69	59	83	0.72	0.22	0.06	72	68	82	0.65	0.34	0.01
	1	50	64	84	0.72	0.24	0.04
	2	16	44	88	0.81	0.12	0.07
CYP1A12C* (m2, rs1048943)	1 & 2	69	59	94	0.90	0.09	0.01	72	68	90	0.85	0.11	0.04
	1	50	64	95	0.90	0.1	0
	2	16	44	100	1.00	0	0
CYP1A14* (m4, rs1799814)	1 & 2	71	59	99	0.97	0.03	0	70	53	96	0.91	0.09	0
	1	53	62	98	0.96	0.04	0
	2	16	44	100	1.00	0	0
CYP1A2 (rs2069522)	1 & 2	54	56	98	0.96	0.04	0	36	67	100	1	0	0
	1	41	61	98	0.95	0.05	0
	2	10	30	100	1.00	0	0
CYP1A21E* and *1K (rs2069526)	1 & 2	55	55	97	0.95	0.05	0	41	56	99	0.98	0.02	0
	1	41	61	96	0.93	0.07	0
	2	11	27	100	1.00	0	0
CYP1A21K* (rs12720461)	1 & 2	48	56	96	0.92	0.08	0	44	61	99	0.98	0.02	0
	1	35	63	94	0.89	0.11	0
	2	10	30	100	1.00	0	0
CYP1A21F* (rs762551)	1 & 2	69	59	75	0.55	0.39	0.06	72	68	62	0.36	0.51	0.13
	1	50	64	78	0.60	0.36	0.04
	2	16	44	59	0.31	0.56	0.13
CYP2E15* (rs3813867)	1 & 2	72	58	87	0.78	0.18	0.04	64	53	84	0.73	0.22	0.05
	1	53	62	89	0.81	0.15	0.04
	2	16	44	81	0.69	0.25	0.06
GST gene	PCT subtype	N	% Male		Patients with a full-length allele (%)			N	% Male		Controls with a full-length allele(%)
GSTM1	1 + 2	71	58		62			72	68		42
	1	52	62		63
	2	16	44		63
GSTT1	1 + 2	71	58		83			72	68		78
	1	52	62		81
	2	16	44		88

^aFor each variant examined, 2–3 patients not examined for UROD mutations were included in comparisons of PCT versus controls but not in comparisons of types 1 and 2.
^bC = common allele; R = rare allele.

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