Table 1. Base excision repair pathway genes investigated.
Gene Symbol | # tagSNPs | Chromosomal location | Protein Function |
APEX1 | 13 | 14q11.2 | Endonuclease |
FEN1 | 7 | 11q12 | Endonuclease |
LIG1 | 23 | 19q13.2-q13.3 | Ligase |
LIG3 | 7 | 17q11.2-q12 | Ligase |
MUTYH | 7 | 1p34.1 | Glycosylase |
NEIL1 | 4 | 15q33.33 | Glycosylase |
NEIL2 | 43 | 8p23.1 | Glycosylase |
NTHL1 | 9 | 16p13.3 | Endonuclease and Glycosylase |
OGG1 | 7 | 3p26 | Glycosylase |
PARP1 | 18 | 1q41-q42 | poly(ADP-ribosyl)ation |
POLβ | 6 | 8p12-p11 | Polymerase |
POLD1 | 7 | 19q13.3 | Polymerase |
SMUG1 | 10 | 12q13.11–13.3 | Glycosylase |
XRCC1 | 21 | 19q13.2 | Scaffolding protein |
Genes are listed according to HUGO gene nomenclature format (http://www.genenames.org), Abbreviations: APEX1, APEX nuclease 1; FEN1, flap structure-specific endonuclease 1; LIG1, ligase I, DNA, ATP-dependent; LIG3, ligase III, DNA, ATP-dependent; MUTYH, mutY homolog (E. coli); NEIL1, nei endonuclease VIII-like 1 (E. coli); NEIL2, nei endonuclease VIII-like 2 (E. coli); NTHL1, nth endonuclease III-like 1 (E. coli); OGG1, 8-oxoguanine DNA glycosylase; PARP, poly (ADP-ribose) polymerase 1; POLβ, polymerase (DNA directed),beta; POLD1, polymerase (DNA directed), delta 1, catalytic subunit 125 kDa; SMUG1, single-strand-selective monofunctional uracil-DNA glycosylase 1; XRCC1, X-ray repair complementing defective repair in Chinese hamster cells 1.