Rasool Bhat G H, Bhat Amrita, Verma Sonali, Sethi Itty, Shah Ruchi, Sharma Varun, Minerva S, Bakshi Divya, Sharma Bhanu, Koul Sandeep, Abrol Deepak, Bhat Audesh, Kumar Rakesh
Cancer Genetics Research Group, School of Biotechnology, Shri Mata Vaishno Devi University, Katra 182 320, India.
J Genet. 2019 Jun;98(2).
Several studies including genomewide association studies (GWASs) in diverse ethnic populations have reported a significant association of genetic variant rs10937405 of TP63 with nonsmall cell lung cancer (NSCLC). However, no data are available from any Indian population on the association of this variant with NSCLC. Using TaqMan genotyping chemistry, we conducted a case-control study involving 190 NSCLC cases and 400 ethnic, age-matched controls to explore the association of rs10937405 genetic variant with NSCLC in patients from north India. Our data support that the rs10937405 variant is also significantly associated with the NSCLC and is a risk factor in the north Indian populations to develop NSCLC. However, unlike most other studies, the wild-type allele T appears to be the risk allele, as its frequency was significantly higher in the cases than controls (0.439 in cases versus 0.383 in controls. OR=1.95 (1.23-3.09 at 95% CI); value (adjusted)= 0.004). Genetic association was also observed by applying different genetic models. The present study provides important information of the genetic aetiology of NSCLC and strengthens GWAS findings, highlighting the role of TP63 in lung cancer risk.
包括在不同种族人群中进行的全基因组关联研究(GWAS)在内的多项研究报告称,TP63基因的rs10937405遗传变异与非小细胞肺癌(NSCLC)存在显著关联。然而,尚无任何印度人群关于该变异与NSCLC关联的数据。我们采用TaqMan基因分型技术,开展了一项病例对照研究,纳入190例NSCLC患者和400名年龄匹配的同种族对照,以探究rs10937405遗传变异与印度北部患者NSCLC的关联。我们的数据支持rs10937405变异也与NSCLC显著相关,且是印度北部人群发生NSCLC的一个风险因素。然而,与大多数其他研究不同的是,野生型等位基因T似乎是风险等位基因,因为其在病例中的频率显著高于对照(病例组为0.439,对照组为0.383。OR = 1.95(95%CI为1.23 - 3.09);校正P值 = 0.004)。应用不同遗传模型时也观察到了遗传关联。本研究提供了NSCLC遗传病因的重要信息,并强化了GWAS研究结果,突出了TP63在肺癌风险中的作用。