CYP19A1 gene polymorphism and colorectal cancer etiology in Saudi population: case–control study

Figures & data

Table 1 Demographic characteristics of colorectal cancer patients and normal control group

Parameters	Normal control (N=100)	Cancer patients (N=100)	P-value
Age (years) (mean ± SD)	53.06±1.5	55.50±1.3	>0.05
Sex			>0.05
Male	58	60
Female	42	40
Smoking	5	5	>0.05
Non-smoking	95	95

Table 2 Genotype and allele frequencies of three SNPs in CYP19A1 gene in the CRC patients and controls

SNP	Variation	Case	Control	OR	CI	χ^2	P-value
rs4774585	GG	46 (46)	48 (48)	Ref
	AG	46 (46)	41 (41)	1.17	0.65–2.09	0.28	0.59
	AA	8 (8)	11 (11)	0.76	0.28–2.05	0.30	0.58
	AG + AA	54 (54)	52 (52)	1.08	0.62–1.88	0.08	0.77
	G	138 (69)	137 (68.5)	Ref
	A	62 (31)	63 (31.5)	0.977	0.64–1.49	0.01	0.91
rs936308	GG	5 (5)	9 (9)	Ref
	CG	35 (35)	34 (34)	0.97	0.53–1.77	0.01	0.94
	CC	60 (60)	57 (57)	1.89	0.59–5.99	1.21	0.27
	CG + GG	40 (40)	43 (43)	0.88	0.50–1.55	0.19	0.66
	G	45 (22.5)	52 (26)	Ref
	C	155 (77.5)	148 (74)	1.21	0.76–1.91	0.67	0.41
rs4775936	CC	37 (37)	35 (35)	Ref
	CT	44 (44)	47 (47)	0.88	0.47–1.60	0.15	0.70
	TT	19 (19)	18 (18)	0.99	0.45–2.20	0.00	0.99
	CT + TT	63 (63)	65 (65)	0.91	0.51–1.63	0.09	0.76
	C	118 (59)	117 (58.5)	Ref
	T	82 (41)	83 (41.5)	0.98	0.65–1.45	0.01	0.92

Abbreviations: CRC, colorectal cancer; OR, odds ratio; Ref, reference; SNP, single nucleotide polymorphism; CI, confidence interval.

Table 3 Comparison of the genotype and allele frequencies of three SNPs in CYP19A1 gene in the colon and rectum cancer patients and the control group

SNP	Variation	Casea		Control	Colon vs rectal				CRC vs control
		Colon	Rectal		OR	CI	χ^2	P-value	OR	CI	χ^2	P-value
rs4774585	GG	46 (70.7)	–	48 (48)	Ref				Ref
		–	15 (45.4)
	AG	11 (16.9)	–	41 (41)	4.46	1.70–11.6	9.86	0.001	1.05	0.54–2.04	0.03	0.86
		–	16 (48.4)						1.24	0.55–2.83	0.28	0.59
	AA	8 (14)	–	11 (11)	0.76	0.14–4.01	0.10	0.75	0.84	0.28–2.51	0.09	0.76
		–	2 (6.06)						0.58	0.11–2.92	0.44	0.50
	AG + AA	19 (29.2)	–	52 (52)	2.90	1.21–6.92	5.97	0.014	1.21	0.42–3.46	0.13	0.71
		–	18 (54.5)						1.10	0.50–2.44	0.06	0.78
	G	103 (56.9)		137 (68.5)	Ref				Ref
			46 (69.6)
	A	27 (18.46)		63 (31.5)	1.65	0.84–3.25	2.18	0.13	0.966	0.60–1.55	0.02	0.88
			20 (30.3)						0.94	0.51–1.72	0.03	0.855
rs936308	GG	4 (0.06)		9 (9)	Ref				Ref
			1 (3.03)
	CG	22 (33.8)		34 (34)	3.81	0.39–37.0	1.50	0.22	0.94	0.48–1.85	0.03	0.87
			21 (63.6)						3.201	1.37–7.44	7.65	0.005
	CC	38 (58.4)		57 (57)	1.15	0.11–11.4	0.02	0.90	1.53	0.44–5.35	0.47	0.49
			11 (33.3)						1.73	0.19–15.12	0.26	0.61
	CG + GG	27 (41.5)		43 (43)	1.15	0.11–11.4	0.02	0.90	1.50	0.44–5.11	0.44	0.50
			22 (66.6)						2.65	1.16–6.04	5.56	0.01
	G	30 (23.0)		52 (26)	Ref				Ref
			23 (34.8)
	C	98 (75.3)		148 (74)	0.57	0.29–1.09	2.86	0.09	1.17	0.69–1.96	0.36	0.54
			43 (65.1)						0.65	0.36–1.19	1.92	0.16
rs4775936	CC	31 (47.6)		35 (35)	Ref				Ref
			16 (48.4)
	CT	22 (33.8)		47 (47)	0.96	0.37–2.48	0.00	0.94	0.88	0.47–1.60	0.15	0.70
			11 (33.3)						0.51	0.21–1.23	2.24	0.13
	TT	12 (18.4)		18 (18)	0.96	0.30–3.06	0.00	0.95	0.99	0.45–2.20	0.00	0.99
			6 (18.1)						0.72	0.24–2.18	0.32	0.57
	CT + TT	34 (52.3)		65 (65)	0.96	0.41–2.24	0.01	0.94	0.91	0.51–1.63	0.09	0.76
			17 (51)						0.57	0.25–1.26	1.91	0.16
	C	84 (64.6)		117 (58.5)	Ref				Ref
			43 (65.1)
	T	46 (35.3)		83 (41.5)	0.97	0.52–1.81	0.01	0.94	0.77	0.48–1.21	1.24	0.26
			23 (34.8)						0.75	0.42–1.34	0.92	0.33

Note:

a The total number of patients is not 100, since the location was not available for a few patients.

Abbreviations: CRC, colorectal cancer; OR, odds ratio; Ref, reference; SNP, single nuclear polymorphism; CI, confidence interval.

Table 4 Genotype and allele frequencies of three SNPs in CYP19A1 gene in females and males colorectal cancer patients and the control group

SNP	Variation	Casea	Control	OR	CI	χ^2	P-value
rs4774585		Females
	GG	18 (42.85)	29 (49.15)	Ref
	AG	20 (47.61)	12 (28.33)	1.11	0.49–2.52	0.06	0.80
	AA	4 (9.52)	1 (1.69)	6.44	0.66–62.3	3.22	0.07
	AG + AA	24 (57.14)	13 (22.03)	1.28	0.58–2.85	0.39	0.53
	G	56 (66.66)	70 (59.32)	Ref.
	A	28 (33.33)	14 (11.86)	1.40	0.76–2.58	1.18	0.27
		Males
	GG	27 (46.55)	19 (46.34)	Ref
	AG	26 (44.82)	12 (29.26)	1.52	0.61–3.75	0.85	0.35
	AA	4 (6.89)	10 (24.39)	0.28	0.07–1.03	3.90	0.04
	AG + AA	29 (50)	22 (53.65)	0.96	0.42–2.14	0.01	0.91
	G	80 (68.96)	50 (60.97)	Ref
	A	56 (48.27)	32 (39.02)	0.66	0.36–1.20	1.81	0.17
rs936308		Females
	GG	3 (7.14)	4 (6.77)	Ref
	CG	11 (26.19)	23 (38.98)	0.54	0.22–1.31	1.83	0.17
	CC	28 (66.66)	32 (54.23)	1.16	0.24–5.66	0.04	0.84
	CG + GG	13 (30.95)	27 (45.76)	0.59	0.26–1.34	1.57	0.20
	G	17 (20.23)	31 (26.27)	Ref
	C	67 (79.76)	69 (58.47)	1.40	0.71–2.74	0.99	0.32
		Males
	GG	3 (5.17)	5 (12.19)	Ref
	CG	23 (39.65)	11 (26.82)	1.63	0.67–3.97	1.18	0.27
	CC	32 (55.17)	25 (60.97)	2.13	0.46–9.79	0.98	0.32
	CG + GG	26 (44.82)	22 (53.65)	1.27	0.56–2.86	0.33	0.56
	G	29 (25.38)	21 (25.60)	Ref
	C	87 (75.61)	61 (74.39)	1.03	0.53–1.97	0.01	0.92
rs4775936		Females
	CC	20 (47.61)	17 (28.81)	Ref
	CT	14 (33.33)	32 (54.23)	0.37	0.15–0.91	4.73	0.02
	TT	8 (19.04)	10 (16.94)	0.68	0.21–2.21	0.45	0.50
	CT + TT	22 (52.38)	42 (71.18)	0.44	0.19–1.01	3.74	0.05
	C	54 (64.28)	66 (55.93)	Ref.
	T	30 (35.71)	52 (44.06)	0.70	0.39–1.25	1.42	0.23
		Males
	CC	18 (31.03)	18 (43.9)	Ref
	CT	29 (50)	16 (39.02)	1.81	0.74–4.43	1.71	0.19
	TT	11 (18.96)	7 (17.07)	1.57	0.49–4.96	0.60	0.44
	CT + TT	40 (68.96)	23 (56.09)	1.73	0.75–3.99	1.72	0.18
	C	65 (56.03)	52 (63.41)	Ref
	T	51 (43.96)	30 (36.58)	1.36	0.76–2.42	1.08	0.29

Note:

a The total number of patients is not 100, since the gender was not recorded for a few patients.

Abbreviations: OR, odds ratio; Ref, reference; SNP, single nucleotide polymorphism; CI, confidence interval.

Table S1 Allele frequencies in the three studied SNPs in Saudis compared to frequencies in populations reported in NCBI SNP database¹

Populations	rs4774585			Significance compared to Saudi population*	rs936308			Significance compared to Saudi population*	rs4775936			Significance compared to Saudi population*
	Chromosome sample number	A	G		Chromosome sample number	C	G		Chromosome sample number	C	T
Saudi Arabian	200	0.315	0.685		200	0.740	0.260		200	0.585	0.415
European	1,006	0.219	0.780	0.0055	1,006	0.8399	0.1600	0.0007	1,006	0.567	0.432	0.6987
African	1,322	0.150	0.849	<0.0001	1,322	0.3026	0.697	0.2557	1,322	0.892	0.1074	<0.0001
American	694	0.273	0.726	0.2931	694	0.7839	0.216	0.2298	694	0.716	0.2839	0.0006
South American	978	0.181	0.819	<0.0001	978	0.672	0.3272	0.0738	978	0.6933	0.3067	0.0035
Asia	172	0.005	0.994	<0.0001	170	0.5882	0.4117	0.0001	172	0.6220	0.3779	0.4607

Note:

* This study.

Abbreviation: SNP, single nucleotide polymorphism.

NCBI SNP database Available from: https://www.ncbi.nlm.nih.gov/snpAccessed September 5, 2016

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