Table 2.
Polymorphisms of DNA repair genes in AD.
| Gene | Role in DNA repair |
Number of cases/controls |
Studied Polymorphisms |
Major findings | Reference |
|---|---|---|---|---|---|
| OGG1 | BER | 178 / 146 | Ser326Cys | No significant association | Coppede et al., 2007 |
| BER | 91 / 93 | Ser326Cys | No significant association | Parildar-Karpuzoglu et al., 2008 | |
| BER | 41 / 51 | Ser326Cys and Arg46Gln |
The CG Ser326Cys genotype seems to have a tendency to be associated with AD. The Arg46Gln polymorphism is not associated with the pathogenesis of AD. |
Dorszewska et al., 2009 | |
| MUTYH | BER | 120 / 110 | rs3219489 (Gln324His) |
No significant association | Kwiatkowski et al., 2015 |
| APE1 | BER | 91 / 93 | Asp148Glu | No significant association | Parildar-Karpuzoglu et al., 2008 |
| XRCC1 | BER | 98 / 101 | Arg194Trp | The variants seemed to be at two fold risk of AD, although no significant association. |
Dogru-Abbasoglu et al., 2007 |
| BER | 212 / 203 | Arg194Trp | No significant association | Qian et al., 2010 | |
| BER | 91 / 93 | Arg280His, Arg399Gln |
No significant association | Parildar-Karpuzoglu et al., 2008 | |
| BER | 120 / 110 | rs1799782 (Arg194Trp), rs25487 (Arg399Gln) |
Positive association between AD risk and the presence of G/A genotype variant of the Arg399Gln polymorphism. The presence of the A/A genotype of this polymorphism reduced the risk of AD. |
Kwiatkowski et al., 2015 | |
| XPD (ERCC2) |
NER | 97 / 101 | Arg156Arg, Lys751Gln |
No significant association | Dogru-Abbasoglu et al., 2007 |
| XPF (ERCC4) |
NER | 97 / 101 | Ser824Ser | No significant association | Dogru-Abbasoglu et al., 2007 |
| PARP1 | Various | 120 / 110 | rs1136410 (Val762Ala) |
T/C variant increases while the T/T variant reduces risk of AD. |
Kwiatkowski et al., 2015 |
| Various | 120 / 111 | Asp81Asp, Val762Ala |
No significant association in single polymorphisms, but two halotypes were significantly associated with AD. |
Liu et al., 2010 |
Abbreviations: OGG1: 8-oxoguanine DNA Glycosylase; MUTYH: mutY DNA glycosylase; APE1: Apurinic/apyrimidinic endonuclease 1; XRCC1: X-Ray Repair Cross-Complementing Group 1; XPD: Xeroderma pigmentosum group D; XPF: Xeroderma pigmentosum group F; PARP1: Poly (ADP-Ribose) Polymerase 1.