Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

Küry, Sébastien; Buecher, Bruno; Robiou-du-Pont, Sébastien; Scoul, Catherine; Colman, Hélène; Le Neel, Tanguy; Le Houérou, Claire; Faroux, Roger; Ollivry, Jean; Lafraise, Bernard; Chupin, Louis-Dominique; Sébille, Véronique; Bézieau, Stéphane

doi:10.1186/1471-2407-8-326

Table 1 Statistical analysis of association between CRC risk and polymorphisms selected for the study (n = 2144; OR calculations were adjusted according to age and sex).

From: Low-penetrance alleles predisposing to sporadic colorectal cancers: a French case-controlled genetic association study

	Gene Name	Nucleotidic change **	Proteic change **	SNP ID **	Ref ***	Controls			Cases			+/- vs. +/+		-/- vs. +/+		+/- and -/- vs. +/+
						+/+	+/-	-/-	+/+	+/-	-/-	OR (95%CI)	p	OR (95% CI)	p	OR (95% CI)	p
Inflammation	ALOX5	c.760G>A	p.Glu254Lys	rs2228065	16	1121	0	0	1023	0	0	Rare		Rare		Rare
	ALOX12	c.782G>A	p.Gln261Arg	rs1126667	16	361	549	211	357	498	168	0.93 (0.76–1.12)	0.37	0.82 (0.63–1.06)	0.09	0.90 (0.75–1.08)	0.24
	IL6	c.-239G>C		rs1800795	17	435	504	182	363	489	171	1.12 (0.92–1.35)	0.11	1.13 (0.87–1.46)	0.35	1.12 (0.94–1.34)	0.22
	IL8	c.-352T>A		rs4073	17	375	516	230	307	511	205	1.25 (1.03–1.53)	0.02	1.12 (0.88–1.44)	0.49	1.21 (1.01–1.46)	0.04
	PLA2G2A	c.-859C>G		rs11573156	d	738	337	46	627	349	47	1.20 (1.00–1.45)	0.05	1.16 (0.75–1.78)	0.39	1.20 (1.00–1.43)	0.05
	PLA2G2A	c.132C>T	p.Tyr44Tyr	rs4744	d	742	333	46	635	342	46	1.17 (0.97–1.42)	0.05	1.13 (0.73–1.73)	0.47	1.17 (0.98–1.40)	0.09
	PLA2G2A	c.185+88G>A		rs2236772	d	1062	59	0	952	69	2	1.30 (0.90–1.88)	0.14	Rare		1.35 (0.94–1.94)	0.11
	PLA2G2A	c.435+230C>T		rs11677	d	829	276	16	789	226	8	0.82 (0.67–1.01)	0.07	0.50 (0.21–1.19)	0.13	0.80 (0.66–0.98)	0.03
	PLD2	c.1731C>T	p.Thr577Ile	rs1052748	18	316	559	246	280	520	223	1.05 (0.86–1.29)	0.63	1.00 (0.78–1.27)	0.85	1.04 (0.85–1.26)	0.82
	PTGS1	c.22C>T	p.Trp8Arg	rs1236913	d,32,34	976	139	6	879	143	1	1.19 (0.92–1.54)	0.30	0.18 (0.02–1.54)	0.08	1.15 (0.89–1.48)	0.29
	PTGS1	c.50C>T	p.Pro17Leu	rs3842787	d,32,34	970	147	4	874	142	7	1.06 (0.82–1.37)	0.58	2.17 (0.62–7.61)	0.28	1.09 (0.85–1.40)	0.51
	PTGS1	c.639C>A	p.Gly213Gly	rs5788	d,32	858	243	20	747	254	22	1.24 (1.01–1.53)	0.03	1.26 (0.67–2.36)	0.45	1.24 (1.02–1.52)	0.03
	PTGS1	c.123G>A	p.Gln41Gln	rs3842788	d,32	1074	47	0	978	45	0	1.10 (0.72–1.68)	0.81	Rare		1.10 (0.72–1.68)	0.81
	PTGS2	c.-646C>T		rs20420	d,16	1121	0	0	1023	0	0	Rare		Rare		Rare
	PTGS2	c.306G>C	p.Val102Val	rs5277	d,31	783	312	26	707	285	31	1.00 (0.82–1.21)	0.90	1.25 (0.73–2.16)	0.30	1.02 (0.84–1.23)	0.85
	PTGS2	c.1815+427T>C		rs5275	d,31	494	499	128	433	476	114	1.08 (0.90–1.30)	0.36	1.01 (0.76–1.35)	0.91	1.07 (0.90–1.27)	0.47
	PTGS2	c.1815+1912A>G		rs4648298	d,31	1062	59	0	959	64	0	1.31 (0.90–1.89)	0.32	Rare		1.31 (0.90–1.89)	0.32
	PPARG	c.36C>G	p.Pro12Ala	rs1801282	17	896	212	13	822	194	7	1.02 (0.81–1.27)	0.98	0.47 (0.19–1.20)	0.25	0.98 (0.79–1.22)	0.85
	PPARG	c.1431C>T	p.His477His	rs3856806	33	875	217	29	803	211	9	1.07 (0.86–1.33)	0.59	0.30 (0.14–0.65)	0.003	0.97 (0.79–1.20)	0.8
Xenobiotics	CYP1A2	c.-163A>C		rs762551	19–21	554	482	85	520	423	80	0.97 (0.81–1.16)	0.46	1.08 (0.77–1.51)	0.99	0.99 (0.83–1.17)	0.87
detoxification	CYP1A2	c.1548T>C	p.Asn516Asn	rs2470890	20,21	455	525	141	433	467	123	0.97 (0.81–1.17)	0.47	0.97 (0.73–1.28)	0.53	0.97 (0.81–1.16)	0.94
	CYP2E1	c.-1293G>C		rs3813867	20	1032	88	1	954	67	2	0.81 (0.58–1.13)	0.25	2.15 (0.18–25.3)	0.52	0.82 (0.59–1.15)	0.37
	CYP2E1	c.-1053C>T		rs2031920	20	1030	90	1	950	67	6	0.79 (0.57–1.11)	0.20	5.74 (0.67–49.2)	0.09	0.85 (0.61–1.18)	0.33
	CYP1B1	c.1294C>G	p.Leu432Val	rs1056836	19–21	370	577	174	322	510	191	0.98 (0.81–1.20)	0.87	1.22 (0.94–1.58)	0.07	1.04 (0.86–1.25)	0.68
	CYP2C9	c.430C>T	p.Arg144Cys	rs1799853	19–21	823	281	17	751	251	21	0.96 (0.79–1.18)	0.83	1.34 (0.69–2.59)	0.36	0.98 (0.81–1.20)	0.88
	EPHX1	c.337T>C	p.Tyr113His	rs1051740	19–21	564	469	88	525	409	89	0.92 (0.77–1.11)	0.47	1.12 (0.81–1.54)	0.61	0.95 (0.80–1.13)	0.58
	GSTA1	c.-4605G>A		rs3957356	22	372	549	200	333	517	173	1.07 (0.88–1.30)	0.60	1.03 (0.79–1.33)	0.79	1.06 (0.88–1.28)	0.53
	GSTM1	null			19–21	161	392	568	174	305	544	0.72 (0.55–0.94)	0.01	0.86 (0.67–1.10)	0.33	0.80 (0.63–1.02)	0.07
	GSTM3	c.468+21delAGG			19,20	788	308	25	679	316	27	1.19 (0.98–1.44)	0.07	1.09 (0.62–1.92)	0.42	1.18 (0.98–1.42)	0.08
	GSTP1	c.313A>G	p.Ile105Val	rs1695	19–21	511	486	124	465	447	111	1.04 (0.86–1.24)	0.90	0.96 (0.72–1.29)	0.91	1.02 (0.86–1.21)	0.82
	GSTP1	c.341C>T	p.Ala114Val	rs1138272	19–21	966	146	9	882	137	4	1.00 (0.77–1.29)	0.83	0.44 (0.13–1.47)	0.22	0.96 (0.75–1.24)	0.78
	GSTT1	null			19–21	433	483	205	411	429	183	0.95 (0.78–1.15)	0.49	0.97 (0.75–1.23)	0.62	0.95 (0.80–1.14)	0.58
	NQO1	c.415C>T	p.Arg139Trp	rs4986998	20,21	1056	65	0	961	62	0	1.06 (0.74–1.54)	0.80	Rare		1.06 (0.74–1.54)	0.80
	NQO1	c.559C>T	p.Pro187Ser	rs1800566	19,21	719	351	51	633	343	47	1.09 (0.91–1.32)	0.26	1.08 (0.71–1.64)	0.83	1.09 (0.91–1.31)	0.34
	SULT1A2	c.714A>C	p.Asn235Thr	rs1059491	21	535	458	128	481	437	105	1.09 (0.90–1.31)	0.52	0.92 (0.69–1.23)	0.53	1.05 (0.88–1.25)	0.58
	UGT1A1	c.-3279T>G		rs4124874	23	359	546	216	308	515	200	1.09 (0.90–1.33)	0.34	1.08 (0.84–1.39)	0.54	1.09 (0.90–1.31)	0.37
	UGT1A1	c.-3156G>A		rs10929302	23	535	495	91	474	458	91	1.03 (0.86–1.24)	0.65	1.11 (0.80–1.53)	0.45	1.04 (0.88–1.24)	0.63
	UGT1A6	c.541A>G	p.Thr181Ala	rs2070959	22	508	504	109	470	443	110	0.94 (0.78–1.13)	0.97	1.07 (0.80–1.45)	0.56	0.96 (0.81–1.15)	0.67
	UGT1A6	c.552A>C	p.Arg184Ser	rs1105879	22	460	529	132	438	454	131	0.89 (0.74–1.07)	0.26	1.03 (0.77–1.36)	0.77	0.92 (0.77–1.09)	0.34
Insulin	GH1	c.456+90T>A		rs2665802	24	326	561	234	316	527	180	0.96 (0.79–1.17)	0.75	0.80 (0.62–1.03)	0.07	0.91 (0.76–1.10)	0.36
	IGF1	c.-1006CA(19)			25	764	152	205	689	159	175	1.12 (0.87–1.44)	0.24	0.95 (0.75–1.20)	0.63	1.02 (0.85–1.23)	0.81
	IGFBP3	c.-336A>C		rs2854744	25	287	571	263	259	502	262	0.99 (0.80–1.22)	0.80	1.13 (0.88–1.44)	0.42	1.03 (0.85–1.26)	0.76
	IRS1	c.2911G>A	p.Gly971Arg	rs1801278	25	956	158	7	865	152	6	1.01 (0.79–1.29)	0.62	0.86 (0.28–2.66)	0.92	1.00 (0.79–1.28)	0.97
	VDR	c.1024+283G>A		rs1544410	25	423	520	178	372	493	158	1.11 (0.92–1.35)	0.43	1.06 (0.81–1.37)	0.94	1.10 (0.92–1.31)	0.31
One-carbon	CBS	c.844ins68			26,27	928	185	8	829	185	8	1.12 (0.89–1.41)	0.32	1.20 (0.44–3.28)	0.82	1.12 (0.90–1.41)	0.31
	MTHFD1	c.1958G>A	p.Arg653Gln	rs2236225	28	339	557	225	322	494	207	0.91 (0.75–1.12)	0.49	0.99 (0.77–1.27)	0.80	0.94 (0.78–1.13)	0.48
	MTHFR	c.665C>T	p.Ala222Val	rs1801133	26,27	457	515	149	435	452	136	0.93 (0.77–1.12)	0.38	0.95 (0.73–1.25)	0.76	0.93 (0.78–1.11)	0.44
	MTHFR	c.1286A>C	p.Ala429Glu	rs1801131	26,27	577	443	101	484	432	107	1.20 (1.00–1.45)	0.04	1.26 (0.93–1.70)	0.12	1.21 (1.02–1.44)	0.03
	MTR	c.2756A>G	p.Asp919Gly	rs1805087	26,27	742	335	44	706	289	28	0.90 (0.74–1.09)	0.31	0.64 (0.39–1.06)	0.10	0.87 (0.72–1.05)	0.14
	MTRR	c.66A>G	p.Ile22Met	rs1801394	26,27	322	568	231	291	515	217	1.01 (0.83–1.24)	0.97	1.01 (0.79–1.30)	0.75	1.01 (0.84–1.23)	0.89
	TYMS	c.943+447del TTAAAG			27	524	482	115	456	456	110	1.13 (0.94–1.36)	0.36	1.04 (0.77–1.39)	0.52	1.11 (0.94–1.33)	0.22
DNA repair*	OGG1	c.977C>G	p.Cys326Ser	rs1052133	29	668	402	51	651	321	51	0.84 (0.69–1.01)	0.05	1.04 (0.69–1.57)	0.90	0.86 (0.72–1.03)	0.09

* SNP OGG1 c.977C>G was chosen to be analyzed together with 6 monoallelic germline mutations of the MUTYH gene – also belonging to the base excision repair system like OGG1 – which were studied previously for their predisposing effect on sporadic CRC (Küry et al., Genet Test; ref [30]).
** Nomenclature referring to the databases dbNSP, SNPPER and SNP500Cancer.
*** Ref: numbers correspond to bibliographical references, and the "d" mark corresponds to SNPs identified by dHPLC screening in 50 patients with CRC and 50 controls from the study population.

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