Oral carcinoma is the sixth most common malignancy worldwide, with survival rates of approximately 50%. The major type of oral cancer, present in 90% of the cases, is oral squamous cell carcinoma (OSCC). The genetic background predisposing an individual to OSCC is complex and largely unknown. Studies have suggested that endothelial nitric oxide synthase (eNOS) gene polymorphisms modulate the cancer risk, prompting us to assess the impact of three functional eNOS gene polymorphisms on OSCC risk. The present study included 50 patients with OSCC and 110 controls. Polymerase chain reaction and restriction fragment length polymorphism analysis were used for genotyping of single-nucleotide polymorphisms −786 T/C (rs2070744) and 894 G/T (rs1799983) and variable number of tandem repeats (VNTR) intron 4b/a polymorphism. Homozygous carriers of −786 T/C and intron 4b/a VNTR variant alleles paired with a significant increase of oral cancer risk [odds ratio (OR): 3.63, 95% confidence interval (CI): 1.08-12.21; P = 0.045 and OR: 11.29, 95% CI: 2.71-47.11; P < 0.001, respectively]. When combined, CC and 4b4a genotypes together led to a 21-fold OSCC risk increase (OR: 21, 95% CI: 2.07-213.29; P = 0.006). Haplotype analysis showed that the C-G-4b haplotype conferred an 11-fold increase in OSCC risk. In conclusion, eNOS polymorphisms considerably influence levels of OSCC risk in the Serbian population.

口腔癌是全球第六大最常见的恶性肿瘤，存活率约为 50%。口腔鳞状细胞癌 (OSCC) 是口腔癌的主要类型，占 90% 的病例。使个体易患 OSCC 的遗传背景很复杂，而且在很大程度上是未知的。研究表明，内皮一氧化氮合酶 (eNOS) 基因多态性调节癌症风险，促使我们评估三种功能性 eNOS 基因多态性对 OSCC 风险的影响。本研究包括 50 名 OSCC 患者和 110 名对照。聚合酶链式反应和限制性片段长度多态性分析用于单核苷酸多态性 -786 T/C (rs2070744) 和 894 G/T (rs1799983) 和可变数量串联重复 (VNTR) 内含子 4b/a 多态性的基因分型。P = 0.045 和 OR：11.29，95% CI：2.71-47.11；P < 0.001，分别]。当组合时，CC 和 4b4a 基因型共同导致 OSCC 风险增加 21 倍（OR：21，95% CI：2.07-213.29；P = 0.006）。单倍型分析表明，CG-4b 单倍型使 OSCC 风险增加了 11 倍。总之，eNOS 多态性显着影响塞尔维亚人群的 OSCC 风险水平。