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Table 2 Genotypic and allelic frequencies among Spanish prostate cancer patients

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

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
  1. Abbreviations: BER base excision repair, NER nucleotide excision repair, DSBR double-strand break repair, chr chromosome, MAF minor allele frequency.
  2. #Information available at: http://www.ncbi.nlm.nih.gov/projects/SNP/.
  3. *SNPs in perfect linkage disequilibrium.
  4. †SNPs in perfect linkage disequilibrium.
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BMC Medical Genetics

ISSN: 1471-2350

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