Department of Molecular Pathology, Institute of Human Genetics of the Polish Academy of Sciences, Strzeszyńska 32 St., 60-479 Poznań, Poland.
Head Neck. 2012 Mar;34(3):376-83. doi: 10.1002/hed.21741. Epub 2011 Apr 5.
We investigated whether genetic polymorphisms of the DNA repair gene NBN are associated with head and neck cancer risk.
We analyzed 6 polymorphisms in 175 patients with a single laryngeal tumor, 104 with multiple primary tumors but 1 malignancy (primary/second) localized in the larynx, 60 patients with multiple primary tumors localized in the head or neck, and 275 controls.
Although frequencies of single nucleotide polymorphism alleles did not show marked differences, we found significant differences in haplotype frequencies between patients and controls. Haplotypes GGTTAA and ACCCGT were associated with an increased risk of laryngeal cancer (p < .0001, p = .002) and haplotypes GGCCAA and GCCCGT with an increased risk of multiple primary tumors (p < .0001, p = .039).
Specific haplotypes of the NBN gene may be related to increased susceptibility to laryngeal cancer and second primary tumors localized in the head and neck.
我们研究了 DNA 修复基因 NBN 的遗传多态性是否与头颈部癌症风险相关。
我们分析了 175 例单发喉肿瘤患者、104 例多原发肿瘤但 1 种恶性肿瘤（原发/第二）位于喉内、60 例多原发肿瘤位于头颈部的患者和 275 例对照者的 6 种基因多态性。
虽然单核苷酸多态性等位基因的频率没有明显差异，但我们发现患者与对照组之间的单倍型频率存在显著差异。GGTTAA 和 ACCCGT 单倍型与喉癌风险增加相关（p <.0001，p =.002），而 GGCCAA 和 GCCCGT 单倍型与多原发肿瘤风险增加相关（p <.0001，p =.039）。
NBN 基因的特定单倍型可能与增加的喉癌和第二原发肿瘤位于头颈部的易感性有关。
