Single nucleotide polymorphisms in DNA repair genes as risk factors associated to prostate cancer progression

BMC Medical Genetics

Table 2 Genotypic and allelic frequencies among Spanish prostate cancer patients

Gene/SNP	Function	chr	n	Genotypic frequencies						Allelic frequencies				MAF#	Functional consequence#
*XRCC1*	BER	19q13
rs25487*			436	CC	0.42	CT	0.48	TT	0.10	C	0.66	T	0.34	0.26	Missense
rs25489			483	CC	0.88	CT	0.12	TT	0.00	C	0.94	T	0.06	0.06	Missense
rs1799782*			487	AA	0.00	AG	0.12	GG	0.88	A	0.06	G	0.94	0.13	Missense
*ERCC2*	NER	19q13
rs13181			482	GG	0.10	GT	0.47	TT	0.43	G	0.34	T	0.66	0.24	Missense
*ERCC1*	NER	19q13
rs11615			488	AA	0.39	AG	0.46	GG	0.16	A	0.61	G	0.39	0.36	Synonymous codon
*LIG4*	DSBR	13q23
rs1805388^†			488	AA	0.04	AG	0.25	GG	0.71	A	0.17	G	0.83	0.15	Missense
rs1805386^†			480	AA	0.70	AG	0.26	GG	0.04	A	0.83	G	0.17	0.10	Synonymous codon
*ATM*	DSBR	11q22
rs17503908			486	GG	0.00	GT	0.18	TT	0.81	G	0.09	T	0.91	0.06	Intron variant
rs1800057			486	CC	0.94	CG	0.06	GG	0.00	C	0.97	G	0.03	0.02	Missense
*TP53*	DSBR	17p13
rs1042522			484	CC	0.59	CG	0.35	GG	0.06	C	0.76	G	0.24	0.39	Missense

Abbreviations: BER base excision repair, NER nucleotide excision repair, DSBR double-strand break repair, chr chromosome, MAF minor allele frequency.
#Information available at: http://0-www-ncbi-nlm-nih-gov.brum.beds.ac.uk/projects/SNP/.
*SNPs in perfect linkage disequilibrium.
^†SNPs in perfect linkage disequilibrium.

ISSN: 1471-2350