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Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck.

dc.contributor.author Liu, Zhensheng
dc.contributor.author Wei, Qingyi
dc.contributor.author Yu, Hongping
dc.contributor.author Huang, Yu-Jing
dc.contributor.author Yin, Ming
dc.contributor.author Wang, Li-E
dc.date.accessioned 2019-02-01T15:26:58Z
dc.date.available 2019-02-01T15:26:58Z
dc.date.issued 2012-01
dc.identifier PONE-D-11-08927
dc.identifier.issn 1932-6203
dc.identifier.issn 1932-6203
dc.identifier.uri https://hdl.handle.net/10161/18021
dc.description.abstract Excision repair cross-complementation group 4 gene (ERCC4/XPF) plays an important role in nucleotide excision repair and participates in removal of DNA interstrand cross-links and DNA double-strand breaks. Single nucleotide polymorphisms (SNPs) in ERCC4 may impact repair capacity and affect cancer susceptibility.In this case-control study, we evaluated associations of four selected potentially functional SNPs in ERCC4 with risk of squamous cell carcinoma of the head and neck (SCCHN) in 1,040 non-Hispanic white patients with SCCHN and 1,046 cancer-free matched controls. We found that the variant GG genotype of rs2276466 was significantly associated with a decreased risk of SCCHN (OR = 0.69, 95% CI 0.50-0.96), and that the variant TT genotype of rs3136038 showed a borderline significant decreased risk with SCCHN (OR = 0.76, 95% CI: 0.58-1.01) in the recessive model. Such protective effects were more evident in oropharyngeal cancer (OR = 0.61, 95% CI: 0.40-0.92 for rs2276466; OR = 0.69, 95% CI: 0.48-0.98 for rs3136038). No significant associations were found for the other two SNPs (rs1800067 and rs1799798). In addition, individuals with the rs2276466 GG or with the rs3136038 TT genotypes had higher levels of ERCC4 mRNA expression than those with the corresponding wild-type genotypes in 90 Epstein-Barr virus-transformed lymphoblastoid cell lines derived from Caucasians.These results suggest that these two SNPs (rs2276466 and rs3136038) in ERCC4 may be functional and contribute to SCCHN susceptibility. However, our findings need to be replicated in further large epidemiological and functional studies.
dc.language eng
dc.publisher Public Library of Science (PLoS)
dc.relation.ispartof PloS one
dc.relation.isversionof 10.1371/journal.pone.0041853
dc.subject Humans
dc.subject Carcinoma, Squamous Cell
dc.subject Head and Neck Neoplasms
dc.subject Genetic Predisposition to Disease
dc.subject DNA-Binding Proteins
dc.subject Gene Expression Regulation, Neoplastic
dc.subject Polymorphism, Single Nucleotide
dc.subject Adolescent
dc.subject Adult
dc.subject Aged
dc.subject Aged, 80 and over
dc.subject Middle Aged
dc.subject Female
dc.subject Male
dc.subject Young Adult
dc.title Association between single nucleotide polymorphisms in ERCC4 and risk of squamous cell carcinoma of the head and neck.
dc.type Journal article
dc.date.updated 2019-02-01T15:26:55Z
pubs.begin-page e41853
pubs.issue 7
pubs.organisational-group Staff
pubs.organisational-group Duke
pubs.organisational-group School of Medicine
pubs.organisational-group Duke Cancer Institute
pubs.organisational-group Institutes and Centers
pubs.organisational-group Population Health Sciences
pubs.organisational-group Basic Science Departments
pubs.organisational-group Medicine, Medical Oncology
pubs.organisational-group Medicine
pubs.organisational-group Clinical Science Departments
pubs.publication-status Published
pubs.volume 7
duke.contributor.orcid Wei, Qingyi|0000-0002-3845-9445


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