A DNA repair variant in POLQ (c.-1060A > G) is associated to hereditary breast cancer patients: a case–control study

Table 3 Genotypic and allelic frequency of selected POLQ polymorphisms in HBC, SBC and control groups

SNP ID	Genotype	HBC		Control		p	SBC		Control		p	1000 Genomes
SNP ID	Genotype	n = 103	%	n = 212	%	p	n = 101	%	n = 212	%	p	1000 Genomes
	AA	48	46.60	110	51.89		44	43.56	110	51.89
rs1381057	AG	46	44.66	86	40.57		49	48.51	86	40.57
c.7538A > G	GG	9	8.74	16	7.55	0.675	8	7.92	16	7.55	0.372
	G	64	31.07	118	27.83	0.401	65	32.18	118	27.83	0.301	28
	AA	47	45.63	142	66.98		59	58.42	142	66.98
rs587553	AG	41	39.81	62	29.25		34	33.66	62	29.25
c.-1060A > G	GG	15	14.56	8	3.77	0.0001^a	8	7.92	8	3.77	0.172
	G	71	34.47	78	18.40	0.0001^b	50	24.75	78	18.40	0.072	19
	AA	44	42.72	108	50.94		44	43.56	108	50.94
rs13065220	GA	49	47.57	89	41.98		49	48.51	89	41.98
c.-190G > A	GG	10	9.71	15	7.08	0.355	8	7.92	15	7.08	0.473
	G	69	33.49	119	28.07	0.165	65	32.18	119	28.07	0.303	28
	CC	36	34.95	97	45.75		39	38.61	97	45.75
rs3806614	CT	54	52.43	88	41.51		48	47.52	88	41.51
c.-323C > T	TT	13	12.62	27	12.74	0.153	14	13.86	27	12.74	0.487
	T	80	38.84	142	33.49	0.213	76	37.62	142	33.49	0.324	33
	AA	70	67.96	132	62.26		76	75.25	132	62.26
rs3218651	AG	28	27.18	72	33.96		23	22.77	72	33.96
c.3602A > G	GG	5	4.85	8	3.77	0.461	2	1.98	8	3.77	0.073
	G	38	18.44	88	20.75	0.526	27	13.37	88	20.75	0.027^c	28
tag SNP	TT	36	34.95	91	42.92		48	47.52	91	42.92
rs11713643	TC	51	49.51	93	43.87		38	37.62	93	43.87
c.2730T > C	CC	16	15.53	28	13.21	0.398	15	14.85	28	13.21	0.576
	C	83	40.29	149	35.14	0.218	68	33.66	149	35.14	0.788	36

ISSN: 1471-2407