Bediaga Naiara G, Marichalar-Mendia Xabier, Rey-Barja Natalia, Setien-Olarra Amaia, Gonzalez-Garcia José A, de Pancorbo Marian Martinez, Aguirre-Urizar José M, Acha-Sagredo Amelia
Oral Medicine & Pathology, Department of Stomatology II, UFI 11/25, University of the Basque Country (UPV/EHU), Leioa, Spain.
BIOMICs Research Group, University of the Basque Country (UPV/EHU), Vitoria, Spain.
J Oral Pathol Med. 2015 Nov;44(10):769-75. doi: 10.1111/jop.12305. Epub 2015 Jan 31.
The Basque Country has one of the highest rates of head and neck squamous cell carcinoma (HNSCC) in Europe, although tobacco and alcohol consumption are not high when compared to other European countries where HNSCC incidence is lower. Our aim was to determine the role of genetic variation with regard to the metabolism of alcohol and carcinogens from tobacco smoke in the Basque Country.
Fourteen polymorphisms in alcohol or tobacco metabolism genes were genotyped in 84 HNSCC patients and 242 healthy individuals from the Basque Country.
ADH1B histidine allele (rs1229984), CYP2E1 rs3813867 heterozygous genotype, and GSTT1 deletion conferred protection against HNSCC (OR: 0.318 [0.04-0.75], OR: 0.13 [0.02-0.94], and OR: 0.12 [0.02-0.60], respectively) while GSTP1 (rs1695) Val/Val genotype was related to an increased risk (OR: 4.12 [1.11-15.31]). Regarding alcohol and tobacco habits, GSTT1 deletion was associated with tobacco usage, while the 3 polymorphisms tested in ALDH2 were associated with alcohol consumption. However, genotypic distributions of these 7 SNPs did not differ from those observed for other Caucasian populations where HNSCC incidence is lower.
The identified genotypic variations in alcohol and tobacco metabolizing genes only by themselves do not seem to be responsible for the higher incidence of HNSCC observed in the Basque Country.
巴斯克地区是欧洲头颈部鳞状细胞癌（HNSCC）发病率最高的地区之一，尽管与HNSCC发病率较低的其他欧洲国家相比，该地区的烟草和酒精消费量并不高。我们的目的是确定酒精代谢和烟草烟雾致癌物代谢方面的基因变异在巴斯克地区所起的作用。
对来自巴斯克地区的84例HNSCC患者和242名健康个体的酒精或烟草代谢基因中的14种多态性进行基因分型。
ADH1B组氨酸等位基因（rs1229984）、CYP2E1 rs3813867杂合基因型和GSTT1缺失可预防HNSCC（OR分别为：0.318 [0.04 - 0.75]、0.13 [0.02 - 0.94]和0.12 [0.02 - 0.60]），而GSTP1（rs1695）Val/Val基因型与风险增加相关（OR：4.12 [1.11 - 15.31]）。关于酒精和烟草习惯，GSTT1缺失与烟草使用相关，而在ALDH2中检测的3种多态性与酒精消费相关。然而，这7个单核苷酸多态性的基因型分布与HNSCC发病率较低的其他白种人群中观察到的分布没有差异。
在酒精和烟草代谢基因中鉴定出的基因型变异本身似乎并不是巴斯克地区观察到的HNSCC发病率较高的原因。
