Das Sambuddha, Bhowmik Aditi, Bhattacharjee Abhinandan, Choudhury Biswadeep, Naiding Momota, Laskar Agniv Kr, Ghosh Sankar Kumar, Choudhury Yashmin
Department of Biotechnology, Assam University, Silchar, 788011, India.
Department of ENT, Silchar Medical College and Hospital, Silchar, 788014, India.
Tumour Biol. 2015 Sep;36(10):7569-79. doi: 10.1007/s13277-015-3472-5. Epub 2015 Apr 29.
In the present study, we investigated the effect of the DNA repair gene polymorphisms XPD Asp312Asn (G>A), APE1 Asp148Glu (T>G), and MUTYH Tyr165Cys (G>A) on the risk for head and neck cancer (HNC) in association with tobacco use in a population of Northeast India. The study subjects comprised of 80 HNC patients and 92 healthy controls. Genotyping was performed using amplification refractory mutation system-PCR (ARMS-PCR) for XPD Asp312Asn (G>A) and PCR using confronting two-pair primers (PCR-CTPP) for APE1 Asp148Glu (T>G) and MUTYH Tyr165Cys (G>A). The XPD Asp/Asn genotype increased the risk for HNC by 2-fold (odds ratio, OR = 2.072; 95 % CI, 1.025-4.190; p < 0.05). Interaction between APE1 Asp/Asp and XPD Asp/Asn as well as MUTYH Tyr/Tyr and XPD Asp/Asn genotypes further increased the risk by 2.9 (OR = 2.97; 95 % CI, 1.16-7.61; p < 0.05) and 2.3 (OR = 2.37; 95 % CI, 1.11-5.10; p < 0.05) folds, respectively. The risk was further increased in heavy smokers with the XPD Asp/Asn genotype and heavy tobacco chewers with XPD Asn/Asn genotype by 7.7-fold (OR = 7.749; 95 % CI, 2.53-23.70; p < 0.05) and 10-fold (OR = 10; 95 % CI, 1.26-79.13; p < 0.05), respectively. We thus conclude that the XPD Asp312Asn and APE1 Asp148Glu polymorphisms increase the risk for HNC in association with smoking and/or tobacco chewing in the population under study.
在本研究中，我们调查了DNA修复基因多态性XPD Asp312Asn（G>A）、APE1 Asp148Glu（T>G）和MUTYH Tyr165Cys（G>A）与印度东北部人群中吸烟相关的头颈癌（HNC）风险的关系。研究对象包括80例HNC患者和92例健康对照。采用扩增阻滞突变系统PCR（ARMS-PCR）对XPD Asp312Asn（G>A）进行基因分型，采用双引物对PCR（PCR-CTPP）对APE1 Asp148Glu（T>G）和MUTYH Tyr165Cys（G>A）进行基因分型。XPD Asp/Asn基因型使HNC风险增加2倍（优势比，OR = 2.072；95%可信区间，1.025 - 4.190；p < 0.05）。APE1 Asp/Asp与XPD Asp/Asn以及MUTYH Tyr/Tyr与XPD Asp/Asn基因型之间的相互作用分别使风险进一步增加2.9倍（OR = 2.97；95%可信区间，1.16 - 7.61；p < 0.05）和2.3倍（OR = 2.37；95%可信区间，1.11 - 5.10；p < 0.05）。XPD Asp/Asn基因型的重度吸烟者和XPD Asn/Asn基因型的重度嚼烟者的风险分别进一步增加7.7倍（OR = 7.749；95%可信区间，2.53 - 23.70；p < 0.05）和10倍（OR = 10；95%可信区间，1.26 - 79.13；p < 0.05）。因此，我们得出结论，在本研究人群中，XPD Asp312Asn和APE1 Asp148Glu多态性与吸烟和/或嚼烟相关，增加了HNC的风险。
