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Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.

Publication ,  Journal Article
Nan, H; Xu, M; Kraft, P; Qureshi, AA; Chen, C; Guo, Q; Hu, FB; Curhan, G; Amos, CI; Wang, L-E; Lee, JE; Wei, Q; Hunter, DJ; Han, J
Published in: Hum Mol Genet
September 15, 2011

We conducted a genome-wide association study on cutaneous basal cell carcinoma (BCC) among 2045 cases and 6013 controls of European ancestry, with follow-up replication in 1426 cases and 4845 controls. A non-synonymous SNP in the MC1R gene (rs1805007 encoding Arg151Cys substitution), a previously well-documented pigmentation gene, showed the strongest association with BCC risk in the discovery set (rs1805007[T]: OR (95% CI) for combined discovery set and replication set [1.55 (1.45-1.66); P= 4.3 × 10(-17)]. We identified that an SNP rs12210050 at 6p25 near the EXOC2 gene was associated with an increased risk of BCC [rs12210050[T]: combined OR (95% CI), 1.24 (1.17-1.31); P= 9.9 × 10(-10)]. In the locus on 13q32 near the UBAC2 gene encoding ubiquitin-associated domain-containing protein 2, we also identified a variant conferring susceptibility to BCC [rs7335046 [G]; combined OR (95% CI), 1.26 (1.18-1.34); P= 2.9 × 10(-8)]. We further evaluated the associations of these two novel SNPs (rs12210050 and rs7335046) with squamous cell carcinoma (SCC) risk as well as melanoma risk. We found that both variants, rs12210050[T] [OR (95% CI), 1.35 (1.16-1.57); P= 7.6 × 10(-5)] and rs7335046 [G] [OR (95% CI), 1.21 (1.02-1.44); P= 0.03], were associated with an increased risk of SCC. These two variants were not associated with melanoma risk. We conclude that 6p25 and 13q32 are novel loci conferring susceptibility to non-melanoma skin cancer.

Duke Scholars

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

September 15, 2011

Volume

20

Issue

18

Start / End Page

3718 / 3724

Location

England

Related Subject Headings

  • Young Adult
  • White People
  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease
 

Citation

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Nan, H., Xu, M., Kraft, P., Qureshi, A. A., Chen, C., Guo, Q., … Han, J. (2011). Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet, 20(18), 3718–3724. https://doi.org/10.1093/hmg/ddr287
Nan, Hongmei, Mousheng Xu, Peter Kraft, Abrar A. Qureshi, Constance Chen, Qun Guo, Frank B. Hu, et al. “Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.Hum Mol Genet 20, no. 18 (September 15, 2011): 3718–24. https://doi.org/10.1093/hmg/ddr287.
Nan H, Xu M, Kraft P, Qureshi AA, Chen C, Guo Q, et al. Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet. 2011 Sep 15;20(18):3718–24.
Nan, Hongmei, et al. “Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.Hum Mol Genet, vol. 20, no. 18, Sept. 2011, pp. 3718–24. Pubmed, doi:10.1093/hmg/ddr287.
Nan H, Xu M, Kraft P, Qureshi AA, Chen C, Guo Q, Hu FB, Curhan G, Amos CI, Wang L-E, Lee JE, Wei Q, Hunter DJ, Han J. Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet. 2011 Sep 15;20(18):3718–3724.
Journal cover image

Published In

Hum Mol Genet

DOI

EISSN

1460-2083

Publication Date

September 15, 2011

Volume

20

Issue

18

Start / End Page

3718 / 3724

Location

England

Related Subject Headings

  • Young Adult
  • White People
  • Skin Neoplasms
  • Polymorphism, Single Nucleotide
  • Middle Aged
  • Male
  • Humans
  • Genome-Wide Association Study
  • Genetics & Heredity
  • Genetic Predisposition to Disease