Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians

Abstract Lung cancer is genetically diverse and a major health burden. Non-small cell lung cancer (NSCLC) accounts for 80% of total lung cancer cases and 20% cases are Small cell lung cancer (SCLC). The present case–control association study focused on the cost effective high throughput genotyping u...

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Autores principales:	Gh. Rasool Bhat, Itty Sethi, Amrita Bhat, Sonali Verma, Divya Bakshi, Bhanu Sharma, Muddasser Nazir, Khursheed A. Dar, Deepak Abrol, Ruchi Shah, Rakesh Kumar
Formato:	article
Lenguaje:	EN
Publicado:	Nature Portfolio 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/6726000fe2524598a069da9a9de17202
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spelling	oai:doaj.org-article:6726000fe2524598a069da9a9de172022021-12-02T15:00:59ZGenetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians10.1038/s41598-021-90742-12045-2322https://doaj.org/article/6726000fe2524598a069da9a9de172022021-05-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-90742-1https://doaj.org/toc/2045-2322Abstract Lung cancer is genetically diverse and a major health burden. Non-small cell lung cancer (NSCLC) accounts for 80% of total lung cancer cases and 20% cases are Small cell lung cancer (SCLC). The present case–control association study focused on the cost effective high throughput genotyping using Agena MassARRAY matrix-assisted laser desorption/ionization-time of flight, mass spectrometry (MALDI-TOF) platform to analyze the genetic association of candidate genetic variants. We performed multiplex PCR and genotyped twelve single nucleotide polymorphisms (SNPs) in 723 samples (162 NSCLC cases and 592 healthy controls). These genetic variants were selected from literature for their association with various cancers worldwide and this is the first study from the region to examine these critically important genetic variants. With prospective case–control association study design, twelve variants from ten genes were evaluated. Amongst these six variants, TCF21 (rs12190287), ERCC1 (rs2298881, 11615), ERCC5 (rs751402), ARNTL (rs4757151), BRIP1 (rs4986764) showed significant association with NSCLC risk (p ≤ 0.003) in Jammu and Kashmir population. In-silico findings of these genetic variants showed remarkable functional roles that needs in-vitro validations. It is further anticipated that such case control studies will help us in understanding the missing heritability of non-small cell lung cancer.Gh. Rasool BhatItty SethiAmrita BhatSonali VermaDivya BakshiBhanu SharmaMuddasser NazirKhursheed A. DarDeepak AbrolRuchi ShahRakesh KumarNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-10 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Gh. Rasool Bhat Itty Sethi Amrita Bhat Sonali Verma Divya Bakshi Bhanu Sharma Muddasser Nazir Khursheed A. Dar Deepak Abrol Ruchi Shah Rakesh Kumar Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
description	Abstract Lung cancer is genetically diverse and a major health burden. Non-small cell lung cancer (NSCLC) accounts for 80% of total lung cancer cases and 20% cases are Small cell lung cancer (SCLC). The present case–control association study focused on the cost effective high throughput genotyping using Agena MassARRAY matrix-assisted laser desorption/ionization-time of flight, mass spectrometry (MALDI-TOF) platform to analyze the genetic association of candidate genetic variants. We performed multiplex PCR and genotyped twelve single nucleotide polymorphisms (SNPs) in 723 samples (162 NSCLC cases and 592 healthy controls). These genetic variants were selected from literature for their association with various cancers worldwide and this is the first study from the region to examine these critically important genetic variants. With prospective case–control association study design, twelve variants from ten genes were evaluated. Amongst these six variants, TCF21 (rs12190287), ERCC1 (rs2298881, 11615), ERCC5 (rs751402), ARNTL (rs4757151), BRIP1 (rs4986764) showed significant association with NSCLC risk (p ≤ 0.003) in Jammu and Kashmir population. In-silico findings of these genetic variants showed remarkable functional roles that needs in-vitro validations. It is further anticipated that such case control studies will help us in understanding the missing heritability of non-small cell lung cancer.
format	article
author	Gh. Rasool Bhat Itty Sethi Amrita Bhat Sonali Verma Divya Bakshi Bhanu Sharma Muddasser Nazir Khursheed A. Dar Deepak Abrol Ruchi Shah Rakesh Kumar
author_facet	Gh. Rasool Bhat Itty Sethi Amrita Bhat Sonali Verma Divya Bakshi Bhanu Sharma Muddasser Nazir Khursheed A. Dar Deepak Abrol Ruchi Shah Rakesh Kumar
author_sort	Gh. Rasool Bhat
title	Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
title_short	Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
title_full	Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
title_fullStr	Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
title_full_unstemmed	Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians
title_sort	genetic evaluation of the variants using massarray in non-small cell lung cancer among north indians
publisher	Nature Portfolio
publishDate	2021
url	https://doaj.org/article/6726000fe2524598a069da9a9de17202
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Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians

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