Literature DB >> 36048272

The rs1801280 SNP is associated with non-small cell lung carcinoma by exhibiting a highly deleterious effect on N-acetyltransferase 2.

Zahraa K Lawi1, Mohammed Baqur S Al-Shuhaib2, Ibtissem Ben Amara3.   

Abstract

PURPOSE: N-acetyltransferase 2 is an enzyme that is involved in the detoxification of carcinogens in the human body, so any damage to this protein may lead to the emergence of several metabolic dysfunctions. This work was conducted to determine the association between NAT2 polymorphism and non-small cell lung carcinoma (NSCLC) that is increasingly reported in the Iraqi population.
METHODS: PCR sequencing was conducted to assess the possible association between genetic variants and NSCLC. Several in silico tools were implemented to investigate the effect of the observed SNPs on the structure, function, and stability of the altered NAT2.
RESULTS: Five SNPS of NAT2 (rs1208, rs1041983, rs1799929, rs1799930, and rs1801280) were identified in high frequencies in the amplified fragment. These SNPs showed variable distributions of haplotypes between cases and controls. No significant association of rs1208, rs1041983, rs1799929, and rs1799930 with NSCLC was shown in the investigated population. In contrast, rs1801280: CC genotype showed a highly significant (P = 0.009) association with the NSCLC, and individuals with this genotype had 2.19 more chances for developing NSCLC (OR 2.19; Cl95% 1.21-3.94). Association analysis of rs1801280 SNP distribution among the investigated patients showed that patients with CC genotype showed a significant (P = 0.02, OR 2.65) association with family history, which entailed a high hereditary possibility of this genotype among Iraqi patients. It was predicted that this SNP showed high damaging effects on the activity of NAT2 enzyme, with various deleterious outcomes on enzyme structure, function, and stability.
CONCLUSION: Data indicated that rs1801280 SNP exerted a tight association with NSCLC since individuals with CC genotype exhibited the most damaging effects on the NAT2 that may be behind the low acetylation rates of this enzyme in patients with NSCLC.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.

Entities:  

Keywords:  Gene variation; Lung cancer; NAT2; nsSNP

Year:  2022        PMID: 36048272     DOI: 10.1007/s00432-022-04332-3

Source DB:  PubMed          Journal:  J Cancer Res Clin Oncol        ISSN: 0171-5216            Impact factor:   4.322


  58 in total

1.  Haploview: analysis and visualization of LD and haplotype maps.

Authors:  J C Barrett; B Fry; J Maller; M J Daly
Journal:  Bioinformatics       Date:  2004-08-05       Impact factor: 6.937

2.  Association of slow acetylation profile of NAT2 with breast and gastric cancer risk in Brazil.

Authors:  Marianne Rodrigues Fernandes; Darlen Cardoso de Carvalho; Ândrea Kelly Campos Ribeiro dos Santos; Sidney Emanuel Batista dos Santos; Paulo Pimentel de Assumpção; Rommel Mario Rodriguez Burbano; Ney Pereira Carneiro dos Santos
Journal:  Anticancer Res       Date:  2013-09       Impact factor: 2.480

3.  Predicting the insurgence of human genetic diseases associated to single point protein mutations with support vector machines and evolutionary information.

Authors:  E Capriotti; R Calabrese; R Casadio
Journal:  Bioinformatics       Date:  2006-08-07       Impact factor: 6.937

4.  Cloning, expression, and functional characterization of two mutant (NAT2(191) and NAT2(341/803)) and wild-type human polymorphic N-acetyltransferase (NAT2) alleles.

Authors:  R J Ferguson; M A Doll; T D Rustan; K Gray; D W Hein
Journal:  Drug Metab Dispos       Date:  1994 May-Jun       Impact factor: 3.922

Review 5.  Multilevel Opportunities to Address Lung Cancer Stigma across the Cancer Control Continuum.

Authors:  Heidi A Hamann; Elizabeth S Ver Hoeve; Lisa Carter-Harris; Jamie L Studts; Jamie S Ostroff
Journal:  J Thorac Oncol       Date:  2018-05-23       Impact factor: 15.609

6.  Identification of DJ-1 as a contributor to multidrug resistance in human small-cell lung cancer using proteomic analysis.

Authors:  Hongyi Gao; Yuchun Niu; Man Li; Shun Fang; Linlang Guo
Journal:  Int J Exp Pathol       Date:  2017-06-05       Impact factor: 1.925

Review 7.  N-acetyltransferase 2 genetic polymorphism: effects of carcinogen and haplotype on urinary bladder cancer risk.

Authors:  D W Hein
Journal:  Oncogene       Date:  2006-03-13       Impact factor: 9.867

8.  A Novel Epigenetic Signature for Early Diagnosis in Lung Cancer.

Authors:  Angel Diaz-Lagares; Jesus Mendez-Gonzalez; David Hervas; Maria Saigi; Maria J Pajares; Diana Garcia; Ana B Crujerias; Ruben Pio; Luis M Montuenga; Javier Zulueta; Ernest Nadal; Antoni Rosell; Manel Esteller; Juan Sandoval
Journal:  Clin Cancer Res       Date:  2016-02-03       Impact factor: 12.531

9.  Predicting the functional effect of amino acid substitutions and indels.

Authors:  Yongwook Choi; Gregory E Sims; Sean Murphy; Jason R Miller; Agnes P Chan
Journal:  PLoS One       Date:  2012-10-08       Impact factor: 3.240

Review 10.  Recommendations for Optimizing Tuberculosis Treatment: Therapeutic Drug Monitoring, Pharmacogenetics, and Nutritional Status Considerations.

Authors:  Rihwa Choi; Byeong Ho Jeong; Won Jung Koh; Soo Youn Lee
Journal:  Ann Lab Med       Date:  2017-03       Impact factor: 3.464

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.