Exonuclease 1 (EXO1) gene variation and melanoma risk

Fengju Song, Abrar A. Qureshi, Jiangwen Zhan, Christopher I. Amos, Jeffrey E. Lee, Qingyi Wei, Jiali Han

Research output: Contribution to journalArticle

10 Citations (Scopus)

Abstract

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.

Original languageEnglish (US)
Pages (from-to)304-309
Number of pages6
JournalDNA Repair
Volume11
Issue number3
DOIs
StatePublished - Mar 1 2012
Externally publishedYes

Fingerprint

Single Nucleotide Polymorphism
Melanoma
Genes
Genome-Wide Association Study
DNA Repair
Repair
Genetic Promoter Regions
DNA
Joints
Health
exodeoxyribonuclease I
Computer Simulation
Neoplasms
Alleles
Nurses
Processing

Keywords

  • DNA repair
  • GWAS
  • Melanoma
  • SNP

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

Cite this

Song, F., Qureshi, A. A., Zhan, J., Amos, C. I., Lee, J. E., Wei, Q., & Han, J. (2012). Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair, 11(3), 304-309. https://doi.org/10.1016/j.dnarep.2011.12.005

Exonuclease 1 (EXO1) gene variation and melanoma risk. / Song, Fengju; Qureshi, Abrar A.; Zhan, Jiangwen; Amos, Christopher I.; Lee, Jeffrey E.; Wei, Qingyi; Han, Jiali.

In: DNA Repair, Vol. 11, No. 3, 01.03.2012, p. 304-309.

Research output: Contribution to journalArticle

Song, F, Qureshi, AA, Zhan, J, Amos, CI, Lee, JE, Wei, Q & Han, J 2012, 'Exonuclease 1 (EXO1) gene variation and melanoma risk', DNA Repair, vol. 11, no. 3, pp. 304-309. https://doi.org/10.1016/j.dnarep.2011.12.005
Song F, Qureshi AA, Zhan J, Amos CI, Lee JE, Wei Q et al. Exonuclease 1 (EXO1) gene variation and melanoma risk. DNA Repair. 2012 Mar 1;11(3):304-309. https://doi.org/10.1016/j.dnarep.2011.12.005
Song, Fengju ; Qureshi, Abrar A. ; Zhan, Jiangwen ; Amos, Christopher I. ; Lee, Jeffrey E. ; Wei, Qingyi ; Han, Jiali. / Exonuclease 1 (EXO1) gene variation and melanoma risk. In: DNA Repair. 2012 ; Vol. 11, No. 3. pp. 304-309.
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