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Exonuclease 1 (EXO1) gene variation and melanoma risk.

Publication ,  Journal Article
Song, F; Qureshi, AA; Zhang, J; Amos, CI; Lee, JE; Wei, Q; Han, J
Published in: DNA Repair (Amst)
March 1, 2012

OBJECTIVE: DNA repair pathway genes play an important role in maintaining genomic integrity and protecting against cancer development. This study aimed to identify novel SNPs in the DNA repair-related genes associated with melanoma risk from a genome-wide association study (GWAS). METHODS: A total of 8422 SNPs from the 165 DNA repair-related genes were extracted from a GWAS of melanoma risk, including 494 cases and 5628 controls from the Nurses' Health Study (NHS) and the Health Professionals Follow-up Study (HPFS). We further replicated the top SNPs in a GWAS of melanoma risk from the MD Anderson Cancer Center (1804 cases and 1026 controls). RESULTS: A total of 3 SNPs with P value <0.001 were selected for in silico replication. One SNP was replicated: rs3902093 [A] in EXO1 promoter region (P(discovery)=6.6 × 10⁻⁴, P(replication)=0.039, P(joint)=2.5 × 10⁻⁴; OR(joint)=0.80, 95% CI: 0.71, 0.90). This SNP was associated with the expression of the EXO1; carriers of the A allele showed lower expression (P=0.002). CONCLUSION: Our study found that a promoter region SNP in the editing and processing nucleases gene EXO1 was associated with decreased expression of EXO1 and decreased melanoma risk. Further studies are warranted to validate this association and to investigate the potential mechanisms.

Duke Scholars

Published In

DNA Repair (Amst)

DOI

EISSN

1568-7856

Publication Date

March 1, 2012

Volume

11

Issue

3

Start / End Page

304 / 309

Location

Netherlands

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Melanoma
  • Male
  • Humans
  • Genetic Predisposition to Disease
  • Female
  • Exodeoxyribonucleases
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Song, F., Qureshi, A. A., Zhang, J., Amos, C. I., Lee, J. E., Wei, Q., & Han, J. (2012). Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair (Amst), 11(3), 304–309. https://doi.org/10.1016/j.dnarep.2011.12.005
Song, Fengju, Abrar A. Qureshi, Jiangwen Zhang, Christopher I. Amos, Jeffrey E. Lee, Qingyi Wei, and Jiali Han. “Exonuclease 1 (EXO1) gene variation and melanoma risk.DNA Repair (Amst) 11, no. 3 (March 1, 2012): 304–9. https://doi.org/10.1016/j.dnarep.2011.12.005.
Song F, Qureshi AA, Zhang J, Amos CI, Lee JE, Wei Q, et al. Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair (Amst). 2012 Mar 1;11(3):304–9.
Song, Fengju, et al. “Exonuclease 1 (EXO1) gene variation and melanoma risk.DNA Repair (Amst), vol. 11, no. 3, Mar. 2012, pp. 304–09. Pubmed, doi:10.1016/j.dnarep.2011.12.005.
Song F, Qureshi AA, Zhang J, Amos CI, Lee JE, Wei Q, Han J. Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair (Amst). 2012 Mar 1;11(3):304–309.

Published In

DNA Repair (Amst)

DOI

EISSN

1568-7856

Publication Date

March 1, 2012

Volume

11

Issue

3

Start / End Page

304 / 309

Location

Netherlands

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Melanoma
  • Male
  • Humans
  • Genetic Predisposition to Disease
  • Female
  • Exodeoxyribonucleases