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Updated: Aug 30, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
The rs1801280 SNP is associated with non-small cell lung carcinoma by exhibiting a highly deleterious effect on
Zahraa K Lawi1, Mohammed Baqur S Al-Shuhaib2, Ibtissem Ben Amara3
1Department of Biology, College of Science, University of Kufa, Najaf, 54001, Iraq.
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.
Insights
Genetic variations in the N-acetyltransferase 2 (NAT2) gene are linked to non-small cell lung carcinoma (NSCLC) risk in Iraq. Specifically, the rs1801280 CC genotype significantly increases NSCLC susceptibility.
Area of Science:
- Genetics
- Biochemistry
- Oncology
Background:
- N-acetyltransferase 2 (NAT2) is crucial for detoxifying carcinogens.
- NAT2 dysfunction can lead to metabolic disorders.
- Polymorphisms in NAT2 may influence cancer development.
Purpose of the Study:
- To investigate the association between NAT2 gene polymorphism and non-small cell lung carcinoma (NSCLC) in the Iraqi population.
- To identify specific genetic variants of NAT2 linked to NSCLC risk.
Main Methods:
- PCR sequencing was used to identify NAT2 genetic variants.
- In silico tools analyzed the impact of identified single nucleotide polymorphisms (SNPs) on NAT2 structure and function.
Main Results:
- Five NAT2 SNPs (rs1208, rs1041983, rs1799929, rs1799930, rs1801280) were found at high frequencies.
- No significant association was found for rs1208, rs1041983, rs1799929, and rs1799930 with NSCLC.
- The rs1801280 CC genotype showed a significant association with increased NSCLC risk (P=0.009, OR=2.19) and family history.
Conclusions:
- The rs1801280 SNP is strongly associated with NSCLC in the Iraqi population.
- The CC genotype of rs1801280 has detrimental effects on NAT2, potentially causing low acetylation rates in NSCLC patients.
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