Polymorphisms within base and nucleotide excision repair pathways and risk of differentiated thyroid carcinoma

被引：9

作者：

Cipollini, Monica ^{[1
]}

Figlioli, Gisella ^{[1
]}

Maccari, Giuseppe ^{[2
]}

Garritano, Sonia ^{[3
]}

De Santi, Chiara ^{[1
]}

Melaiu, Ombretta ^{[1
]}

Barone, Elisa ^{[1
]}

Bambi, Franco ^{[4
]}

Ermini, Stefano ^{[4
]}

Pellegrini, Giovanni ^{[5
]}

Cristaudo, Alfonso ^{[6
]}

Foddis, Rudy ^{[6
]}

Bonotti, Alessandra ^{[6
]}

Romei, Cristina ^{[6
]}

Vivaldi, Agnese ^{[5
]}

Agate, Laura ^{[6
]}

Molinari, Eleonora ^{[6
]}

Barale, Roberto ^{[1
]}

Forsti, Asta ^{[7
,8
]}

Hemminki, Kari ^{[7
,8
]}

Elisei, Rossella ^{[6
]}

Gemignani, Federica ^{[1
]}

Landi, Stefano ^{[1
]}

机构：

[1] Univ Pisa, Dept Biol, Pisa, Italy

[2] Ist Italiano Tecnol, Ctr Nanotechnol & Innovat NEST, Piazza San Silvestro Pisa, Pisa, Italy

[3] Univ Trento, Ctr Integrated Biol, Trento, Trento, Italy

[4] Univ Hosp Meyer, Ctr Blood, Florence, Italy

[5] Univ Hosp Cisanello, Lab Clin Chem Anal, Operat Unit, Pisa, Italy

[6] Univ Pisa, Dept Endocrinol & Metab Orthopaed & Traumatol, Occupat Med, Pisa, Italy

[7] German Canc Res Ctr, Div Mol Genet Epidemiol, Heidelberg, Germany

[8] Lund Univ, Clin Res Ctr, Ctr Primary Hlth Care Res, Malmo, Sweden

来源：

DNA REPAIR | 2016年 / 41卷

关键词：

Polymorphism; Differentiated thyroid cancer risk; BER; NER; OXIDATIVE DNA-DAMAGE; HYDROGEN-PEROXIDE; ASSOCIATION; GLYCOSYLASE; GENES; NEIL3; MUTAGENESIS; VARIANTS; MOUSE; CELLS;

D O I：

10.1016/j.dnarep.2016.03.011

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The thyrocytes are exposed to high levels of oxidative stress which could induce DNA damages. Base excision repair (BER) is one of the principal mechanisms of defense against oxidative DNA damage, however recent evidences suggest that also nucleotide excision repair (NER) could be involved. The aim of present work was to identify novel differentiated thyroid cancer (DTC) risk variants in BER and NER genes. For this purpose, the most strongly associated SNPs within NER and BER genes found in our previous GWAS on DTC were selected and replicated in an independent series of samples for a new case-control study. Although a positive signal was detected at the nominal level of 0.05 for rs7689099 (encoding for an aminoacid change proline to arginine at codon 117 within NEIL3), none of the considered SNPs (Le. rs7990340 and rs690860 within RFC3, rs3744767 and rs1131636 within RPM, rs16962916 and rs3136166 in ERCC4, and rs17739370 and rs7689099 in NEIL3) was associated with the risk of DTC when the correction of multiple testing was applied. In conclusion, a role of NER and BER pathways was evoked in the susceptibility to DTC. However, this seemed to be limited to few polymorphic genes and the overall effect size appeared weak. (c) 2016 Published by Elsevier B.V.

引用

页码：27 / 31

页数：5

共 40 条

[1] A method and server for predicting damaging missense mutations [J].