REV3L single nucleotide variants lead to increased susceptibility towards non-small cell lung cancer in the population of Jammu and Kashmir |
| |
| Institution: | 1. School of Biotechnology, Shri Mata Vaishno Devi University, Katra, India;2. Department of Biotechnology, University of Kashmir, Jammu & Kashmir, India;3. Indian Council of Medical Research-Centre for Advanced Research, Shri Mata Vaishno Devi University, Katra, Jammu & Kashmir, India;4. Centre for Molecular Biology, Central University of Jammu, Jammu & Kashmir, India;1. Infectious Diseases Institute, Makerere University College of Health Sciences, Kampala, Uganda;2. Harvard Medical School, Boston, MA, United States;3. Moi University, Eldoret, Kenya;4. Academic Model Providing Access to Healthcare (AMPATH), Eldoret, Kenya;5. University of California, San Francisco, CA, United States;6. Masaka Regional Referral Hospital, Masaka, Uganda;7. Mbarara Regional Referral Hospital, Mbarara, Uganda;8. Indiana University, Indianapolis, IN, United States;1. Department of Epidemiology and Biostatistics, School of Public Health, Anhui Medical University, Hefei 230000, Anhui, China;2. Laboratory for Environmental Toxicology, Anhui Medical University, Hefei 230032, Anhui, China;1. Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Department of Paediatric Oncology and Haematology, Germany;2. Charité-Universistätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Social Medicine, Epidemiology and Health Economics, Germany;3. Charité-Univesristätsmedizin Berlin, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Institute of Biometry and Clinical Epidemiology (iBiKE), Germany;4. St. Anna Kinderspital Vienna, Austria;5. University Hospital Hradec Králové, Czech Republic;6. University Hospital Ostrava, Czech Republic;7. University Hospital Brno, Czech Republic;8. Medical University Bialystok, Poland;9. University Hospital Motol, Prague, Czech Republic;10. Medical University Graz, Austria;11. University of Lucerne, Department of Health Sciences and Medicine, Switzerland;12. Medical University Wroclaw, Poland;13. Kepler Universitätsklinikum GmbH, Linz, Austria;14. Eastern Switzerland University of Applied Sciences, Department of Health Sciences, Institute of Applied Nursing Science, St. Gallen, Switzerland;15. Berlin Institute of Health (BIH), Berlin, Germany;1. Department of Urology, University Hospital Frankfurt, Frankfurt am Main, Germany;2. Cancer Prognostics and Health Outcomes Unit, Division of Urology, University of Montréal Health Center, Montréal, Québec, Canada;3. Department of Neurosciences, Reproductive Sciences and Odontostomatology, University of Naples Federico II, Italy;4. Department of Urology and Division of Experimental Oncology, URI, Urological Research Institute, IRCCS San Raffaele Scientific Institute, Milan, Italy;5. Martini-Klinik Prostate Cancer Center, University Hospital Hamburg-Eppendorf, Hamburg, Germany;6. Department of Urology, Comprehensive Cancer Center, Medical University of Vienna, Vienna, Austria;7. Departments of Urology, Weill Cornell Medical College, New York, NY, USA;8. Department of Urology, University of Texas Southwestern, Dallas, TX, USA;9. Department of Urology, Second Faculty of Medicine, Charles University, Prag, Czech Republic;10. Institute for Urology and Reproductive Health, I.M. Sechenov First Moscow State Medical University, Moscow, Russia;11. Division of Urology, Department of Special Surgery, Jordan University Hospital, The University of Jordan, Amman, Jordan;1. Laboratory of Cancer Epidemiology, National Cancer Institute, P. Baublio 3B, LT-08406, Vilnius, Lithuania;2. Institute of Health Sciences, Faculty of Medicine, Vilnius University, M.K. Ciurlionio. 21, LT-03101, Vilnius, Lithuania;3. External Beam Radiotherapy Department, National Cancer Institute, Santariski? 1, LT-08660, Vilnius, Lithuania;4. Environmental and Lifestyle Epidemiology Branch, International Agency for Research on Cancer, 150 Cours Albert Thomas, 69372, Lyon Cedex 08, France;1. National Cancer Registration and Analysis Service, National Disease Registration, Public Health England, South Wing, 6th Floor, Wellington House, 133-135 Waterloo Road, London, SE1 8UG, UK;2. Macmillan Cancer Support, 89 Albert Embankment, London, SE1 7UQ, UK;3. Health Data Insight (HDI) Community Interest Company (CIC), CPC4, Capital Park, Fulbourn, Cambridge, CB21 5XE, UK |
| |
| Abstract: | BackgroundNon-small cell lung cancer (NSCLC) is the most common lung cancer, accounting for 80–85% of all lung cancer cases. Various genetic studies have associated REV3L (Protein reversion less 3-like) gene mutations, which encodes the catalytic subunit of error prone translesion synthesis polymerase zeta with cancer, including lung cancer; however, no such data is available from any North Indian population. In this study we attempted to screen the North Indian population of Jammu and Kashmir (J&K) for the potential role of REV3L gene polymorphisms in NSCLC.MethodsA total of four REV3L single nucleotide variants were selected for genotyping based on the available literature. The genotyping was carried out by using the TaqMan allele discrimination assay in 500 subjects (200 NSCLC patients and 300 age and sex matched healthy controls). The association of variants with NSCLC was evaluated by logistic regression.ResultsOut of the four REV3L variants genotyped; rs1002481, rs462779, and rs465646 were found significantly associated with NSCLC risk under the recessive model, with an Odds Ratio (OR) of 3.52(2.14–5.8 at 95% CI, p-value = 0.00000062), 3.7 (1.8–7.6 at 95% CI, p-value = 0.00031), and 2.2 (1.47–3.37 at 95% CI, p-value = 0.0003), respectively.DiscussionOur data supports a strong association between variants rs1002481, rs462779, rs465646 and NSCLC, indicating a potential role of these REV3L variants in increasing the risk for the development of NSCLC in the studied population. Although a first report from any Indian population, these variants have been previously reported to be associated with lung and colorectal cancers in different world populations. Our data along with the existing data supports the notation that these variants can be used as potential genetic predisposition markers.Availability of data and materialsData generated and analysed during study is not available publicly but can be made available from the corresponding author upon reasonable request. |
| |
| Keywords: | Non-small cell lung cancer (NSCLC) DNA repair gene DNA polymerase zeta |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
