Table 3. Genetic variants nominally significantly associated with colorectal-cancer risk in meta-analyses of all available data.

						Number evaluated			Colorectal-cancer risk meta-analysis					Venice criteria garde^‡	False-positive report probability^§	Cumulative evidence of association

Genes	Variants	Alleles ^*	Chromosome	Frequency (%)^†	Ethinicity	Studies	Cases	Controls	Genetic models	OR (95% CI)	P value	I² (%)	P_{heterogeneity}
APC	rs1801155	A/T	5	6.80	Jewish	3	804	6,188	Dominant	1.96 (1.37-2.79)	1.99×10^-4	0	0.84	BAA	0.007	Strong
CHEK2	1100delC	1100delC/–	22	0.71	White	7	3,874	11,630	Dominant	1.88 (1.29-2.73)	0.001	0	0.50	×AA	0.036	Strong
CHEK2	rs17879961	C/T	22	3.91	White	6	6,042	17,051	Dominant	1.56 (1.32-1.84)	1.22×10^-7	0	0.76	BAA	<0.001	Strong
CYP1A1	rs1048943	G/A	15	10.33	All	16	6,704	8,009	Additive	1.24 (1.05-1.47)	0.014	74	0.00	ACC	0.338	Weak
CYP2E1	96-bp insertion	96-bp ins/–	10	16.98	All	4	1,412	1,781	Additive	1.24 (1.03-1.49)	0.023	35	0.20	ABA	0.462	Weak
DNMT3B	rs1569686	G/T	20	16.99	All	4	1,054	1,224	Additive	0.57 (0.47-0.68)	1.86×10^-9	0	0.99	BAA	<0.001	Strong
GH1	rs2665802	A/T	17	45.39	All	7	3,275	3,848	Additive	0.89 (0.80-0.99)	0.025	49	0.07	ABC	0.508	Weak
GSTM1	Present/Null	NA	1	50.64	All	56	20,552	31,419	null vs present	1.10 (1.04-1.17)	0.001	48	0.00	ABC	0.046	Moderate
GSTT1	Present/Null	NA	22	29.53	All	43	15,144	23,847	null vs present	1.15 (1.05-1.27)	0.004	68	0.00	ACC	0.144	Weak
IGFBP3	rs2854746	G/C	7	46.08	All	5	4,282	7,365	Additive	1.07 (1.01-1.14)	0.016	0	0.07	AAC	0.447	Weak
MLH1	rs121912963	C/G	3	0.43	All	3	1,412	1,508	Additive	2.74 (1.31-5.75)	0.008	15	0.31	×AC	0.231	Weak
MLH1	rs1800734	A/G	3	21.11	White	5	801	10,890	Additive	1.51 (1.34-1.69)	6.74×10^-12	46	0.11	AAA	<0.001	Strong
MLH1	rs63750447	A/T	3	1.96	Asian	3	937	919	Additive	2.14 (1.12-4.12)	0.022	41	0.18	BBC	0.458	Weak
MMP1	rs1799750	2G/1G	11	39.63	All	8	1,477	1,751	Additive	0.76 (0.64-0.92)	0.004	61	0.01	ACC	0.138	Weak
MSH3	rs184967	A/G	5	15.25	White	3	5,085	7,136	Additive	1.11 (1.03-1.20)	0.005	0	0.38	AAC	0.182	Weak
MSH3	rs26279	G/A	5	28.13	White	4	5,691	7,665	Additive	1.1 (1.03-1.17)	0.006	17	0.31	AAC	0.157	Weak
MTHFD1	rs1950902	A/G	14	18.78	White	3	3,822	5,452	Additive	0.90 (0.84-0.98)	0.010	0	0.79	AAC	0.275	Weak
MUTYH	Monoallelic mutation	NA	1	1.69	White	17	25,981	18,811	Carriers vs wild homozygotes	1.17 (1.01-1.34)	0.036	0	0.84	BAC	0.546	Weak
MUTYH	Biallelic mutation	NA	1	0.01	White	17	25,981	18,811	Carriers vs wild homozygotes	10.19 (5.00-22.04)	5.30×10^-10	0	0.88	×AA	<0.001	Strong
MUTYH	rs34612342	G/A	1	0.01	White	17	27,041	19,641	GG vs AA	3.32 (1.13-9.81)	0.030	0	1.00	×AA	0.533	Strong
MUTYH	rs36053993	A/G	1	0.00	White	17	26,957	19,870	AA vs GG	6.49 (2.57-1.35)	7.49×10^-5	0	0.85	×AA	0.003	Strong
NAT2	Fast/slow	NA	8	47.39	All	35	11,684	15,348	Slow vs fast	0.94 (0.89-0.99)	0.023	1	0.45	AAC	0.47	Weak
NOD2	rs2066844	T/C	16	6.15	White	9	3,297	3,088	Dominant	1.35 (1.02-1.78)	0.038	34	0.14	BBC	0.581	Weak
NOD2	rs2066847	C/–	16	6.21	White	11	4,337	5,395	Dominant	1.30 (1.02-1.65)	0.032	33	0.13	BBC	0.546	Weak
PTGS1	rs5788	A/C	9	13.35	White	4	3,989	6,659	Additive	1.13 (1.04-1.22)	0.004	0	0.64	AAC	0.113	Weak
PTGS2	rs689466	G/A	1	30.34	All	9	4,076	7,610	Additive	0.88 (0.80-0.98)	0.018	56	0.02	ACC	0.405	Weak
SCD	rs7849	G/A	10	18.49	All	3	2,011	2,580	Additive	0.85 (0.73-0.98)	0.025	29	0.25	ABC	0.488	Weak
TERT	rs2736100	T/G	5	49.34	White	8	16,176	18,135	Additive	1.07 (1.04-1.1)	2.92×10^-5	0	0.53	AAC	0.001	Moderate
TGFB1	rs1800469	T/C	19	38.74	All	10	4,405	5,383	Additive	0.88 (0.79-0.97)	0.013	55	0.02	ACC	0.33	Weak
TNF	rs1800629	A/G	6	13.78	All	11	2,296	2,283	Additive	1.28 (1-1.62)	0.046	71	0.00	ACC	0.625	Weak
TP73	G4C14/A4T14	NA	1	24.02	All	4	858	1,168	Additive	1.20 (1.04-1.40)	0.015	6	0.36	AAC	0.363	Weak
UBD	rs2076485	C/T	6	26.07	White	3	4,281	6,157	Additive	1.07 (1.01-1.14)	0.034	0	0.77	AAC	0.563	Weak
VDR	rs11568820	A/G	12	36.61	White	4	3,228	3,455	Dominant	1.15 (1.04-1.27)	0.005	0	0.93	AAB	0.165	Weak
VDR	rs1544410	A/G	12	38.96	All	17	11,687	12,301	Additive	0.85 (0.72-0.99)	0.040	93	93.40	ACC	0.87	Weak
VEGF	rs3025039	T/C	6	19.43	All	6	1,925	1,884	Additive	1.19 (1.04-1.37)	0.014	29	0.22	ABC	0.347	Weak
XPA	rs1800975	A/G	9	36.46	White	3	593	1,137	Additive	0.82 (0.70-0.96)	0.016	4	0.36	AAC	0.379	Weak
XPC	rs2228001	C/A	3	37.38	All	9	2,978	5,204	Additive	1.08 (1.01-1.16)	0.021	0	0.83	AAC	0.486	Weak

Minor alleles/major alleles (Per Caucasian); majors alleles were treated as reference alleles in the analyses;

Allelic ORs were estimated under the additive model. For dominant or recessive models, ORs were estimated for subjects who carry one or two minor alleles or subjects homozygous for the minor alleles,respectively.

^†

Frequency of minor allele or effect genotype(s) in controls in primary meta-analysis

^‡

Venice criteria grades are for amount of evidence, replication of the association, and protection from bias.

^§

False-positive report probability (FPRP) was determined based on OR and P value of each variant from meta-analysis and a prior probability of 0.05.

Cumulative epidemiological evidence as graded by combination of results from Venice criteria and FPRP for association with colorectal-cancer risk.