association between single nucleotide polymorphisms in ercc4 and risk of squamous cell carcinoma of the head and neck联系单核苷酸多态性在ercc4和头颈部鳞状细胞癌的风险.pdf
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Association between Single Nucleotide Polymorphisms
in ERCC4 and Risk of Squamous Cell Carcinoma of the
Head and Neck
1,2 2 2 2 2 2
Hongping Yu *, Zhensheng Liu , Yu-Jing Huang , Ming Yin , Li-E Wang , Qingyi Wei *
1 Department of Epidemiology and Biostatistics, Guiling Medical University School of Public Health, Guilin, China, 2 Departments of Epidemiology, The University of Texas
M.D. Anderson Cancer Center, Houston, Texas, United States of America
Abstract
Background: 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.
Methodology/Principal Findings: 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
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