Yadav Suresh Kumar, Singh Sudhir, Gupta Shalini, Brahma Bhatt Madan Lal, Mishra Durga P, Roy D, Sanyal Somali
Amity Institute of Biotechnology, Amity University Uttar Pradesh, Lucknow Campus, Lucknow, Uttar Pradesh, India.
Department of Radiotherapy, King George's Medical University, Lucknow, Uttar Pradesh, India.
J Cancer Res Ther. 2018 Apr-Jun;14(3):651-657. doi: 10.4103/jcrt.JCRT_358_17.
Genetic variations in nucleotide excision repair genes can alter the risk of squamous cell carcinoma of head and neck (SCCHN).
The present study has genotyped 334 subjects from North Indian population for xeroderma pigmentosum complementation Group C (XPC) rs2228001A>C, XPC rs77907221 polyadenylate (PAT) deletion/insertion (D/I), xeroderma pigmentosum complementation Group D - rs13181A>C, and xeroderma pigmentosum complementation Type G rs17655 G>C polymorphisms with polymerase chain reaction (PCR)-restriction-fragment length polymorphism or allele-specific PCR methods.
Compared to D allele, I allele for XPC PAT D/I polymorphism was associated with significantly decreased the risk of SCCHN (odds ratios = 0.67, 95% confidence interval [CI] =0.48-0.94, P = 0.03). Haplotype CI constituted from XPC polymorphisms was also associated with decreased risk of SCCHN (P = 0.004). In contrast, haplotype Crohn's disease significantly increased the risk for SCCHN (P < 0.00). A significant early onset of SCCHN was observed in individuals with CC genotype for XPC A>C polymorphism (P = 0.004).
Our results suggest a possible risk modulation for SCCHN with XPC polymorphisms in North Indian population.
核苷酸切除修复基因的遗传变异可改变头颈部鳞状细胞癌（SCCHN）的发病风险。
本研究采用聚合酶链反应（PCR）-限制性片段长度多态性或等位基因特异性PCR方法，对334名来自北印度人群的受试者进行了着色性干皮病C组（XPC）rs2228001A>C、XPC rs77907221聚腺苷酸（PAT）缺失/插入（D/I）、着色性干皮病D组-rs13181A>C以及着色性干皮病G型rs17655 G>C多态性的基因分型。
与D等位基因相比，XPC PAT D/I多态性的I等位基因与SCCHN发病风险显著降低相关（优势比=0.67，95%置信区间[CI]=0.48-0.94，P=0.03）。由XPC多态性构成的单倍型CI也与SCCHN发病风险降低相关（P=0.004）。相比之下，克罗恩病单倍型显著增加了SCCHN的发病风险（P<0.00）。在XPC A>C多态性CC基因型个体中观察到SCCHN发病显著提前（P=0.004）。
我们的结果表明，在北印度人群中，XPC多态性可能对SCCHN具有风险调节作用。
