Investigation of innate immunity genes CARD4, CARD8 and CARD15 as germline susceptibility factors for colorectal cancer

Table 6 Genotype and allele frequencies for CARD15 mutations among German CRC patients and controls.

CARD15		N	1*1	1*2	2*2	1*2 (c)	2*2 (c)	R702W-G908R	R702W - 1007fs	P_allelic	P_geno	P_geno(c)^a	OR_CAR(c) [CI_95%]^a	OR_REC(c) [CI_95%]^a
R702W	≤45CRC	72	60	10	2	9	3	0	1	0.008^b	0.0008^b	1.3 • 10^{-5 b}	1.99 [1.02-3.89]^b	32.9 [3.36-321.2]^b
	≤50CRC	143	123	18	2	17	3	0	1	0.029	0.033	0.0062	1.66 [0.96-2.86]	14.2 [1.46-137.6]
	Control	639	582	56	1	56	1
	CRC	1044	941	99	4	93	10	2	4	0.501	0.591	0.098	1.09 [0.78-1.51]	6.2 [0.79-48.4]
	Control	724	658	65	1	65	1
G908R	≤45CRC	72	69	3	0	69	0			0.350^b	n/a	n/a	1.81 [0.51-6.32]^b	N/A
	≤50CRC	143	137	6	0	137	0			0.272	n/a	n/a	1.71 [0.65-4.43]	N/A
	Control	639	623	16	0	623	0
	CRC	1044	1014	29	1	27	3	2	0	0.432	0.603	0.335	1.23 [067-2.24]	N/A
	Control	724	707	17	0	707	0
L1007fs	≤45CRC	72	64	8	0	7	1	0	1	0.062^b	0.086^b	0.077^b	2.25 [1.00-5.04]^b	N/A
	≤50CRC	143	132	11	0	10	1	0	1	0.316	0.319	0.459	1.53 [0.75-3.01]	N/A
	Control	639	606	31	2	31	2
	CRC	1044	972	69	3	65	7	0	4	0.171	0.358	0.272	1.33 [0.89-2.00]	1.1 [0.17-6.35]
	Control	724	686	36	2	686	2
R702W/G908R/L1007fs	≤45CRC	72	50	20	2	19	3	0	1	0.001^b	0.002^b	0.0001^b	2.19 [1.28-3.75]^b	12.1 [2.37-61.31]^b
	≤50CRC	143	107	34	2	33	3	0	1	0.013	0.038	0.015	1.69 [1.09-2.60]	4.9 [0.99-25.01]
	Control	639	533	103	3	103	3
	CRC	1044	845	191	8	185	14	2	4	0.175	0.347	0.099	1.17 [0.91-1.50]	3.3 [0.95-11.63]
	Control	724	603	118	3	118	3

1*1 homozygous wild-type, 1*2 heterozygous, 2*2 homozygous mutant, (c) homozygous for mutant allele and compound heterozygous combined; P_allelic and P_geno are calculated from the observed genotypes (1*1, 1*2, 2*2);^a P_geno 2*2 (c): genotypic p values and OR_CAR(c): odds ratio for carriership of rare allele and OR_REC(c): odds ratio for homozygosity of rare allele under the ressesive disease model were calculated by judging compound heterozygotes as homozygotes of the rare allele, P_allelic and P_geno were calculated without considering compound heterozygotes; ^bP values and odds ratios for young CRC (≤45 age at diagnosis) were calculated against the total control cohort.

ISSN: 1471-230X