Title |
Association between putative functional variants in the PSMB9 gene and risk of melanoma – re‐analysis of published melanoma genome‐wide association studies
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Published in |
Pigment Cell & Melanoma Research, March 2013
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DOI | 10.1111/pcmr.12069 |
Pubmed ID | |
Authors |
Ji Qian, Hongliang Liu, Sheng Wei, Zhensheng Liu, Yangkai Li, Li‐E Wang, Wei V. Chen, Christopher I. Amos, Jeffrey E. Lee, GenoMEL investigators, Mark M. Iles, Matthew H. Law, Q‐MEGA AMFS investigators, Anne E. Cust, Jennifer H. Barrett, Grant W. Montgomery, John Taylor, Julia A. Newton Bishop, Stuart MacGregor, D. Timothy Bishop, Graham J. Mann, Nicholas K. Hayward, Qingyi Wei |
Abstract |
To mine possibly hidden causal single-nucleotide polymorphisms (SNPs) of melanoma, we investigated the association of SNPs in 76 M/G1 transition genes with melanoma risk using our published genome-wide association study (GWAS) data set with 1804 melanoma cases and 1026 cancer-free controls. We found multiple SNPs with P < 0.01 and performed validation studies for 18 putative functional SNPs in PSMB9 in two other GWAS data sets. Two SNPs (rs1351383 and rs2127675) were associated with melanoma risk in the GenoMEL data set (P = 0.013 and 0.004, respectively), but failed in validation using the Australian data set. Genotype-phenotype analysis revealed these two SNPs were significantly correlated with mRNA expression level of PSMB9. Further experiments revealed that SNP rs2071480, which is in high LD with rs1351383 and rs2127675, may have a weak effect on the promoter activity of PSMB9. Taken together, our data suggested that functional variants in PSMB9 may contribute to melanoma susceptibility. |
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Demographic breakdown
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Members of the public | 1 | 100% |
Mendeley readers
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Australia | 1 | 4% |
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Demographic breakdown
Readers by professional status | Count | As % |
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Professor | 5 | 19% |
Student > Master | 4 | 15% |
Researcher | 4 | 15% |
Student > Ph. D. Student | 4 | 15% |
Professor > Associate Professor | 2 | 8% |
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Unknown | 5 | 19% |
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Nursing and Health Professions | 1 | 4% |
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