Study of genetic variants in chromosome 5p15.33 region in non-smoker lung cancer patients.

Iman Mandour,Menna Ahmad El-Hossainy,Sabah Ahmed Mohamed Hussein,Rania Essam

doi:10.5603/arm.a2020.0161

Iman Mandour, Menna Ahmad El-Hossainy + Show 2 more

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https://doi.org/10.5603/arm.a2020.0161

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Journal: Advances in respiratory medicine	Publication Date: Dec 30, 2020
Citations: 5	License type: CC BY 4.0

Affiliation: Cairo University

Abstract

Genome-wide association studies have identified that genetic polymorphisms in the telomerase reverse transcrip-tase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes may play important roles in the development of lung cancer in never smokers. This study was aiming to evaluate the associations between the risk of lung cancer in never smokers and single nucleotide polymorphisms in these genes by Real-Time Taqman assay, in forty lung cancer patients and forty apparently healthy age-matched controls selected from the chest department, Kasr Al-Ainy hospital from June 2018 to January 2019. Adenocarcinoma was the most common histopathological subtype of lung cancer in the study patients. Also, the prevalence of females having adenocarcinoma was more common than males. The heterozygous form of the CLPTM1L occurred more frequently in the subjects aged above 46 years (P=0.019). There was a significant association between (rs 2730100) (c. 1574-3777C>A) TERT and CLPTM1L (rs 451360) (c.1532+ 1051C>A) genotypes and the incidence of lung cancer in never smokers, especially adenocarcinoma, a subtype of non-small cell lung carcinoma (NSCLC). Polymorphism in the telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1 like (CLPT-M1L) genes may play an important role in the development of NSCLC, especially adenocarcinoma subtype. The two genes are located in the chromosome 5p15.33.

Highlights

Genome-wide association studies have identified that genetic polymorphisms in the telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes may play important roles in the development of lung cancer in never smokers
This study investigated the association between telomerase reverse transcriptase rs 2736100 (c.15743777C>A) and cleft lip and palate transmembrane 1 like protein rs 451360 (c.1532+1051C>A) single nucleotide polymorphism with lung cancer in never smokers
Never smoker lung cancer patients were classified into small-cell lung carcinoma (SCLC) constituting 5% (2 patients), undifferentiated lung carcinoma constituting 5% (2 patients) and 36 (90%) non-smallcell lung carcinoma (NSCLC) cases, who were divided into 26 (65%) adenocarcinoma cases, 6 (15%) large-cell carcinoma and 4 (10%) squamous-cell carcinoma (Figure 2)

Summary

Introduction

Genome-wide association studies have identified that genetic polymorphisms in the telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1-like (CLPTM1L) genes may play important roles in the development of lung cancer in never smokers. 1574-3777C>A) TERT and CLPTM1L (rs 451360) (c.1532+ 1051C>A) genotypes and the incidence of lung cancer in never smokers, especially adenocarcinoma, a subtype of non-small cell lung carcinoma (NSCLC). Conclusions: Polymorphism in the telomerase reverse transcriptase (TERT) and cleft lip and palate transmembrane 1 like (CLPTM1L) genes may play an important role in the development of NSCLC, especially adenocarcinoma subtype. Studies have demonstrated differences in epidemiological characteristics and histopathological subtypes between smokers and never smokers, which led to the suggestion of existence of non-tobacco-related risk factors in the pathogenesis of NSCLC. Additional evidence that suggested differences in tumor biology between never smokers and smokers lay in the mutational frequencies and spectra observed in the tumor tissue itself [3]

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