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Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies.

Publication ,  Journal Article
Qian, J; Liu, H; Wei, S; Liu, Z; Li, Y; Wang, L-E; Chen, WV; Amos, CI; Lee, JE; GenoMEL investigators, ; Iles, MM; Law, MH; Cust, AE; Wei, Q ...
Published in: Pigment Cell Melanoma Res
May 2013

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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Published In

Pigment Cell Melanoma Res

DOI

EISSN

1755-148X

Publication Date

May 2013

Volume

26

Issue

3

Start / End Page

392 / 401

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • RNA, Messenger
  • Publications
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Molecular Sequence Data
  • Melanoma
  • Humans
  • Genome-Wide Association Study
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Qian, J., Liu, H., Wei, S., Liu, Z., Li, Y., Wang, L.-E., … Wei, Q. (2013). Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies. Pigment Cell Melanoma Res, 26(3), 392–401. https://doi.org/10.1111/pcmr.12069
Qian, Ji, Hongliang Liu, Sheng Wei, Zhensheng Liu, Yangkai Li, Li-E Wang, Wei V. Chen, et al. “Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies.Pigment Cell Melanoma Res 26, no. 3 (May 2013): 392–401. https://doi.org/10.1111/pcmr.12069.
Qian J, Liu H, Wei S, Liu Z, Li Y, Wang L-E, et al. Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies. Pigment Cell Melanoma Res. 2013 May;26(3):392–401.
Qian, Ji, et al. “Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies.Pigment Cell Melanoma Res, vol. 26, no. 3, May 2013, pp. 392–401. Pubmed, doi:10.1111/pcmr.12069.
Qian J, Liu H, Wei S, Liu Z, Li Y, Wang L-E, Chen WV, Amos CI, Lee JE, GenoMEL investigators, Iles MM, Law MH, Q-MEGA AMFS investigators, Cust AE, Barrett JH, Montgomery GW, Taylor J, Bishop JAN, Macgregor S, Bishop DT, Mann GJ, Hayward NK, Wei Q. Association between putative functional variants in the PSMB9 gene and risk of melanoma--re-analysis of published melanoma genome-wide association studies. Pigment Cell Melanoma Res. 2013 May;26(3):392–401.
Journal cover image

Published In

Pigment Cell Melanoma Res

DOI

EISSN

1755-148X

Publication Date

May 2013

Volume

26

Issue

3

Start / End Page

392 / 401

Location

England

Related Subject Headings

  • Risk Factors
  • Reproducibility of Results
  • RNA, Messenger
  • Publications
  • Promoter Regions, Genetic
  • Polymorphism, Single Nucleotide
  • Molecular Sequence Data
  • Melanoma
  • Humans
  • Genome-Wide Association Study