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非吸烟肺癌患者5号染色体p15.33区域基因变异的研究。

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

作者信息

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

机构信息

Department of Clinical and Chemical Pathology, Faculty of Medicine, Cairo University, Egypt.

Department of Chest Diseases, Faculty of Medicine, Cairo University, Egypt.

出版信息

Adv Respir Med. 2020;88(6):485-494. doi: 10.5603/ARM.a2020.0161.

Abstract

INTRODUCTION

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.

MATERIAL AND METHODS

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.

RESULTS

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).

CONCLUSIONS

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.

摘要

引言

全基因组关联研究已确定,端粒酶逆转录酶(TERT)基因和腭裂跨膜蛋白1样(CLPTM1L)基因中的遗传多态性可能在从不吸烟者患肺癌的过程中发挥重要作用。

材料与方法

本研究旨在通过实时Taqman分析评估从不吸烟者患肺癌的风险与这些基因中单核甘酸多态性之间的关联,研究对象为2018年6月至2019年1月从开罗大学艾因夏姆斯医院胸科选取的40例肺癌患者和40例年龄匹配的明显健康对照者。

结果

腺癌是本研究患者中最常见的肺癌组织病理学亚型。此外,患腺癌的女性患病率高于男性。CLPTM1L的杂合形式在46岁以上的受试者中出现频率更高(P = 0.019)。TERT(rs 2730100)(c. 1574-3777C>A)和CLPTM1L(rs 451360)(c.1532+ 1051C>A)基因型与从不吸烟者患肺癌尤其是非小细胞肺癌(NSCLC)的一种亚型腺癌的发病率之间存在显著关联。

结论

端粒酶逆转录酶(TERT)基因和腭裂跨膜蛋白1样(CLPT-M1L)基因中的多态性可能在NSCLC尤其是腺癌亚型的发生发展中起重要作用。这两个基因位于5号染色体p15.33区域。

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