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

Table 5 Results of the genetic association analyses of the tagging SNPs in the CARD15 gene.

dbSNP id	CARD15Position	MAF case	MAF cont	OR_allelic[CI_95%]	P_allelic	P_HAP2	P_HAP3	P_HAP4	P_HAP5
*1044 CRC patients vs 724 sex-matched control individuals*
rs5743266	5'UTR	0.30	0.29	1.05 [0.91-1.22]	0.459	0.687	0.236	0.362	0.517
rs13339578	intron	0.30	0.30	0.99 [0.86-1.15]	0.980	0.835	0.903	0.443	0.209
rs2066844	R702W	0.05	0.05	1.13 [0.82-1.55]	0.501	0.838	0.391	0.323	0.317
rs2066845	G908R	0.01	0.01	1.27 [0.70-2.30]	0.432	0.353	0.269	0.266	0.169
rs5743289	intron	0.18	0.17	1.11 [0.93-1.33]	0.247	0.103	0.151	0.132	-#
rs5743291	I955V	0.08	0.10	0.80 [0.64-1.01]	0.052	0.041	0.121	-#	-#
rs2066847	L1007fs	0.04	0.03	1.31 [0.89-1.93]	0.171	0.295	-#	-#	-#
rs8056611	3'flank. region	0.49	0.49	1.02 [0.89-1.17]	0.823	-#	-#	-#	-#
*143 CRC patients (age at diagnosis ≤50) vs 639 sex-matched control individuals*
rs5743266	5'UTR	0.31	0.29	1.11 [0.84-1.47]	0.456	0.232	0.196	0.232	0.323
rs13339578	intron	0.32	0.3	1.09 [0.83-1.44]	0.521	0.070	0.145	0.106	0.153
rs2066844	R702W	0.08	0.05	1.75 [1.05-2.91]	0.029 ^a	0.03	0.117	0.210	0.228
rs2066845	G908R	0.02	0.01	1.69 [0.66-4.36]	0.273	0.161	0.305	0.275	0.281
rs5743289	intron	0.21	0.17	1.29 [0.94-1.78]	0.118	0.323	0.185	0.183	-#
rs5743291	I955V	0.08	0.1	0.74 [0.46-1.19]	0.214	0.116	0.598	-#	-#
rs2066847	L1007fs	0.04	0.03	1.42 [0.71-2.83]	0.316	0.613	-#	-#	-#
rs8056611	3'flank. region	0.5	0.48	1.05 [0.81-1.36]	0.692	-#	-#	-#	-#

^a P value were not significant after Bonferroni correction for multiple testing, *no odds ratio calculated due to low allele frequency, ^# p-value reported for the first marker in the haplotype window. The minor allele frequencies (MAF) for cases and controls are reported. P values and odds ratios are reported for the allelic (p_allelic) test. Columns P_HAP2 to P_HAP5 refer to a sliding window haplotype analysis using COCAPHASE. For example, P_HAP2 (0.295) for rs2066847 reports the global significance value for the window 2 haplotype sapnning rs2066847- rs8056611.

ISSN: 1471-230X