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Article: A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus

TitleA germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus
Authors
Issue Date2011
PublisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/
Citation
Cancer Research, 2011, v. 71 n. 5, p. 1533-1539 How to Cite?
AbstractGenome-wide association studies on pigmentary phenotypes provide a pool of candidate genetic markers for skin cancer risk. The SNPs identified from a genome-wide association study of natural hair color were assessed for associations with the risk of three types of skin cancer simultaneously in a nested case-control study within the Nurses' Health Study [218 melanoma, 285 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) cases, and 870 common controls]. Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10 -4 for melanoma, 7.0 × 10 -7 for SCC, and 0.04 for BCC). This association was further replicated in additional samples (190 melanoma, 252 SCC, and 634 common controls). The P value in the replication set was 0.03 for melanoma and 4.2 × 10 -3 for SCC. The risk of BCC was replicated in an independent set of 213 cases and 718 controls (P value, 0.02). The combined results showed that the association with SCC reached the genome-wide significance level [odds ratio (OR) for additive model=1.61, 95%CI, 1.36-1.91, P=3.2×10 -8]. The OR was 1.49 for melanoma (95%CI, 1.23-1.80; P = 4.5 × 10 -5), and 1.32 for BCC (95%CI, 1.11-1.57; P = 1.6×10 -3). Given that the T allele was shown previously to be associated with increased expression of IRF4 locus, further studies are warranted to elucidate the role of the IRF4 gene in human pigmentation and skin cancer development. ©2011 AACR.
Persistent Identifierhttp://hdl.handle.net/10722/180745
ISSN
2015 Impact Factor: 8.556
2015 SCImago Journal Rankings: 5.372
ISI Accession Number ID
References

 

DC FieldValueLanguage
dc.contributor.authorHan, Jen_US
dc.contributor.authorQureshi, AAen_US
dc.contributor.authorNan, Hen_US
dc.contributor.authorZhang, Jen_US
dc.contributor.authorSong, Yen_US
dc.contributor.authorGuo, Qen_US
dc.contributor.authorHunter, DJen_US
dc.date.accessioned2013-01-28T01:42:12Z-
dc.date.available2013-01-28T01:42:12Z-
dc.date.issued2011en_US
dc.identifier.citationCancer Research, 2011, v. 71 n. 5, p. 1533-1539en_US
dc.identifier.issn0008-5472en_US
dc.identifier.urihttp://hdl.handle.net/10722/180745-
dc.description.abstractGenome-wide association studies on pigmentary phenotypes provide a pool of candidate genetic markers for skin cancer risk. The SNPs identified from a genome-wide association study of natural hair color were assessed for associations with the risk of three types of skin cancer simultaneously in a nested case-control study within the Nurses' Health Study [218 melanoma, 285 squamous cell carcinoma (SCC), and 300 basal cell carcinoma (BCC) cases, and 870 common controls]. Along with two known pigmentation loci, MC1R and OCA2, the IRF4 rs12203592 T allele was associated with an increased risk of each type of skin cancer (P value, 6.6 × 10 -4 for melanoma, 7.0 × 10 -7 for SCC, and 0.04 for BCC). This association was further replicated in additional samples (190 melanoma, 252 SCC, and 634 common controls). The P value in the replication set was 0.03 for melanoma and 4.2 × 10 -3 for SCC. The risk of BCC was replicated in an independent set of 213 cases and 718 controls (P value, 0.02). The combined results showed that the association with SCC reached the genome-wide significance level [odds ratio (OR) for additive model=1.61, 95%CI, 1.36-1.91, P=3.2×10 -8]. The OR was 1.49 for melanoma (95%CI, 1.23-1.80; P = 4.5 × 10 -5), and 1.32 for BCC (95%CI, 1.11-1.57; P = 1.6×10 -3). Given that the T allele was shown previously to be associated with increased expression of IRF4 locus, further studies are warranted to elucidate the role of the IRF4 gene in human pigmentation and skin cancer development. ©2011 AACR.en_US
dc.languageengen_US
dc.publisherAmerican Association for Cancer Research. The Journal's web site is located at http://cancerres.aacrjournals.org/en_US
dc.relation.ispartofCancer Researchen_US
dc.subject.meshCarcinoma, Basal Cell - Geneticsen_US
dc.subject.meshCarcinoma, Squamous Cell - Geneticsen_US
dc.subject.meshCase-Control Studiesen_US
dc.subject.meshGenetic Locien_US
dc.subject.meshGenetic Predisposition To Disease - Geneticsen_US
dc.subject.meshGenome-Wide Association Studyen_US
dc.subject.meshGenotypeen_US
dc.subject.meshHumansen_US
dc.subject.meshInterferon Regulatory Factors - Geneticsen_US
dc.subject.meshMelanoma - Geneticsen_US
dc.subject.meshMembrane Transport Proteins - Geneticsen_US
dc.subject.meshPolymorphism, Single Nucleotideen_US
dc.subject.meshReceptor, Melanocortin, Type 1 - Geneticsen_US
dc.subject.meshRisk Factorsen_US
dc.subject.meshSkin Neoplasms - Geneticsen_US
dc.subject.meshSkin Pigmentation - Geneticsen_US
dc.titleA germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locusen_US
dc.typeArticleen_US
dc.identifier.emailZhang, J: jzhang1@hku.hken_US
dc.identifier.authorityZhang, J=rp01713en_US
dc.description.naturelink_to_subscribed_fulltexten_US
dc.identifier.doi10.1158/0008-5472.CAN-10-1818en_US
dc.identifier.pmid21270109-
dc.identifier.scopuseid_2-s2.0-79952227506en_US
dc.relation.referenceshttp://www.scopus.com/mlt/select.url?eid=2-s2.0-79952227506&selection=ref&src=s&origin=recordpageen_US
dc.identifier.volume71en_US
dc.identifier.issue5en_US
dc.identifier.spage1533en_US
dc.identifier.epage1539en_US
dc.identifier.isiWOS:000287845300005-
dc.publisher.placeUnited Statesen_US
dc.identifier.scopusauthoridHan, J=7406442327en_US
dc.identifier.scopusauthoridQureshi, AA=7201433959en_US
dc.identifier.scopusauthoridNan, H=7003470244en_US
dc.identifier.scopusauthoridZhang, J=22137260600en_US
dc.identifier.scopusauthoridSong, Y=8436554700en_US
dc.identifier.scopusauthoridGuo, Q=55459996500en_US
dc.identifier.scopusauthoridHunter, DJ=36064393800en_US

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