Association between folate metabolism polymorphisms and breast cancer: a case-control study

Gimenez-Martins, Ana Paula D’Alarme; Castanhole-Nunes, Márcia Maria Urbanin; Nascimento-Filho, Carlos Henrique Viesi do; Santos, Stéphanie Piacenti dos; Galbiatti-Dias, Ana Lívia Silva; Fernandes, Glaucia Maria de Mendonça; Cuzziol, Caroline Izak; Francisco, José Luis Esteves; Pavarino, Érika Cristina; Goloni-Bertollo, Eny Maria

doi:10.1590/1678-4685-GMB-2020-0485

Brasil

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Human and Medical Genetics • Genet. Mol. Biol. 44 (4) • 2021 • https://doi.org/10.1590/1678-4685-GMB-2020-0485 linkcopy

Association between folate metabolism polymorphisms and breast cancer: a case-control study

Authorship SCIMAGO INSTITUTIONS RANKINGS

Polymorphisms	Primers Sequence	Restriction Enzyme	Fragments Size
MTHFR C677T		Hinf I
sense	5’- TGA AGG AGA AGG TGT CTG CGG GA 3’		C allele - 198 bp
anti-sense	5’- AGG ACG GTG CGG TGA GAG TG 3’		T allele - 175, 23 bp
MTHFR A1298C		Mbo II
sense	5’- CAA GGA GGA GCT GCT GAA GA 3’		A allele - 72, 28 bp
anti-sense	5’ - CAA CTC CAG CAT CAC TCA CT 3’		C allele - 100, 28 bp
MTR A2756G		Hae III
sense	5’- CCA GGG TGC CAG GTA TAC AG 3’		A allele - 413, 85 bp
anti-sense	5’- GCC TTT TAC ACT CCT CAA AAC 3’		G allele-290, 123, 85 bp

Clinical features	MTHFR C677T		MTHFR A1298C		MTR A2756G		MTRR A66G
	CC	CT+TT	AA	AC+CC	AA	AG+GG	AA	AG+GG
	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)
Tumor size
T1-T2	29 (22.7)	51 (39.8)	49 (38.2)	31 (24.2)	50 (39.1)	30 (23.3)	25 (19.5)	55 (43.0)
T3-T4	16 (12.5)	31 (24.2)	29 (22.7)	18 (14.1)	32 (25.0)	15 (11.8)	22 (17.2)	25 (19.5)
Unknown	01 (0.8)	0 (0)	01 (0.8)	0 (0)	01 (0.8)	0 (0)	01 (0.8)	0 (0)
OR (95% CI)	1.00	1.31 (0.57-3.03)	1.00	1.18 (0.53-2.64)	1.00	0.77 (0.34-1.74)	1.00	0.50 (0.23-1.09)
p value	0.522		0.682		0.526		0.081
Lymph nodes
No	27 (21.1)	43 (33.6)	41 (32.0)	29 (22.7)	44 (34.4)	26 (20.3)	25 (19.5)	45 (35.2)
Yes	17 (13.2)	37 (28.9)	36 (28.0)	18 (14.1)	37 (28.9)	17 (13.2)	20 (15.6)	34 (26.5)
Unknown	02 (1.6)	02 (1.6)	02 (1.6)	02 (1.6)	02 (1.6)	02 (1.6)	03 (2.4)	01 (0.8)
OR (95% CI)	1.00	1.98 (0.83-4.71)	1.00	0.80 (0.35-1.81)	1.00	0.62 (0.27-1.43)	1.00	0.87 (0.39-1.95)
p value	0.122		0.591		0.264		0.730
Metastasis
No	29 (22.7)	51 (39.8)	44 (34.4)	36 (28.0)	48 (37.5)	32 (25.0)	30 (23.3)	50 (39.1)
Yes	16 (12.5)	28 (21.8)	32 (25.0)	12 (9.4)	31 (24.2)	13 (10.1)	15 (11.7)	29 (22.7)
Unknown	01 (0.8)	03 (2.4)	03 (2.4)	01 (0.8)	04 (3.2)	0 (0)	03 (2.4)	01 (0.8)
OR (95% CI)	1.00	1.19 (0.50-2.82)	1.00	0.48 (0.21-1.11)	1.00	0.51 (0.22-1.20)	1.00	1.06 (0.47-2.40)
p value	0.697		0.08		0.123		0.894

Breast Cancer Subtype	MTHFR C677T		MTHFR A1298C		MTR A2756G		MTRR A66G
	CC	CT+TT	AA	AC+CC	AA	AG+GG	AA	AG+GG
	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)	N (%)
Luminal A	12 (9.4)	22 (17.2)	19 (14.8)	15 (11.7)	22 (17.2)	12 (9.4)	15 (11.7)	19 (14.8)
OR (95% CI)	1.00	1.01 (0.42-2.45)	1.00	1.64 (0.70-3.85)	1.00	1.07 (0.44-2.58)	1.00	0.62 (0.27-1.45)
p value	0.975		0.253		0.879		0.272
Luminal B	22 (17.2)	40 (31.2)	39 (30.5)	23 (17.9)	38 (29.7)	24 (18.7)	18 (14.1)	44 (34.4)
OR (95% CI)	1.00	0.77 (0.34-1.71	1.00	0.91 (0.42-1.98)	1.00	1.39 (0.63-3.04)	1.00	2.16 (0.98-4.76)
p value	0.514		0.817		0.415		0.056
HER2 Overexpression	04 (3.2)	09 (7.0)	08 (6.2)	05 (3.9)	10 (7.8)	03 (2.4)	06 (4.6)	07 (5.5)
OR (95% CI)	1.00	1.31 (0.33-5.29)	1.00	1.04 (0.29-3.73)	1.00	0.35 (0.08-1.50)	1.00	0.58 (0.16-2.08)
p value	0.704		0.948		0.156		0.405
Triple Negative	05 (3.9)	11 (8.5)	12 (9.4)	04 (3.2)	10 (7.8)	06 (4.6)	07 (5.5)	09 (7.0)
OR (95% CI)	1.00	1.36 (0.40-4.57)	1.00	0.50 (0.14-1.75)	1.00	0.94 (0.29-3.09)	1.00	0.63 (0.20-1.95)
p value	0.622		0.276		0.923		0.425
Unknown	03 (2.4)	0 (0)	01 (0.8)	02 (1.6)	03 (2.4)	0 (0)	02 (1.6)	01 (0.8)

Model	Genotype	Case N (%)	Control N (%)	OR (95%CI)	p	Genotype	Case N (%)	Control N (%)	OR (95%CI)	p
	MTHFR C677T					MTHFR A1298C
Codominant	CC	46 (35.9)	207 (43.3)	1.00 1.21 (0.77-1.89) 1.71 (0.91-3.22)	0.25	AA	79 (61.7)	261 (54.6)	1.00 0.90 (0.59-1.39) 0.22 (0.06-0.74)	0.01^*
	CT	61 (47.7)	218 (45.6)			AC	46 (35.9)	170 (35.6)
	TT	21 (16.4)	53 (11.1)			CC	3 (2.3)	47 (9.8)
	C allele	153 (60)	632 (66)			A allele	204 (80)	692 (72)
	T allele	103 (40)	324 (34)			C allele	52 (20)	264 (28)
	HWE	p=1.0	p=0.76			HWE	p=0.28	p=0.016
Dominant	CC	46 (35.9)	207 (43.3)	1.00	0.21	AA	79 (61.7)	261 (54.6)	1.00	0.20
Dominant	CT+TT	82 (64.1)	271 (56.7)	1.31 (0.86-2.00)	0.21	AC+CC	49 (38.3)	217 (45.4)	0.76 (0.50-1.16)	0.20
Recessive	CC+CT	107 (83.6)	425 (88.9)	1.00	0.15	AA+AC CC	125 (97.7)	431 (90.2)	1.00	0.004^*
Recessive	TT	53 (11.1)	53 (11.1)	1.55 (0.87-2.75)	0.15	CC	3 (2.3)	47 (9.8)	0.22 (0.07-0.76)	0.004^*
Overdominant	CC+TT	67 (52.3)	260 (54.4)	1.00	0.82	AA+CC	82 (64.1)	308 (64.4)	1.00	0.92
Overdominant	CT	61 (47.7)	218 (45.6)	1.05 (0.70-1.58)	0.82	AC	46 (35.9)	170 (35.6)	1.02 (0.67-1.57)	0.92
Log-additive	-	-	-	1.28 (0.95-1.74)	0.1	-	-	-	0.70 (0.49-0.98)	0.03^*
	MTR A2756G					MTRR A66G
Codominant	AA	83 (64.8)	300 (62.8)	1.00 1.22 (0.79-1.89) 0.23 (0.03-1.77)	0.12	AA	48 (37.5)	168 (35.1)	1.00 0.99 (0.63-1.56) 0.76 (0.42-1.35)	0.59
	AG	44 (34.4)	156 (32.6)			AG	57 (44.5)	211 (44.1)
	GG	1 (0.8)	22 (4.6)			GG	23 (18.0)	99 (20.7)
	A allele	210 (82)	756 (79)			A allele	153 (60)	547 (57)
	G allele	46 (18)	200 (21)			G allele	103 (40)	409 (43)
	HWE	p=0.07	p=0.78			HWE	p=0.46	p=0.03
Dominant	AA	83 (64.8)	300 (62.8)	1.00	0.63	AA	48 (37.5)	168 (35.1)	1.00	0.66
Dominant	AG+GG	45 (35.2)	178 (37.2)	1.11 (0.721.71)	0.63	AG+GG	80 (62.5)	310 (64.8)	0.91 (0.60-1.39)	0.66
Recessive	AA+AG	127 (99.2)	456 (95.4)	1.00	0.06	AA+AG	105 (82)	379 (79.3)	1.00	0.30
Recessive	GG	1 (0.8)	22 (4.6)	0.21 (0.03-1.64)	0.06	GG	23 (18)	99 (20.7)	0.76 (0.45-1.29)	0.30
Overdominant	AA+GG	84 (65.6)	322 (67.4)	1.00	0.27	AA+GG	71 (55.5)	267 (55.9)	1.00	0.68
Overdominant	AG	44 (34.4)	156 (32.6)	1.28 (0.83-1.98)	0.27	AG	57 (44.5)	211 (44.1)	1.09 (0.72-1.65)	0.68
Log-additive	-	-	-	0.98 (0.67-1.43)	0.91	-	-	-	0.89 (0.67-1.17	0.40

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[TFN1] MTHFR - Methylenetetraydrofolate reductase; MTR - methionine synthase, bp- base-pair‘