台湾人群中 DNA 连接酶 1 Rs20579 多态性与肺癌风险的关联。

The Association of DNA Ligase 1 Rs20579 Polymorphism With Lung Cancer Risk Among Taiwanese.

机构信息

Division of Chest Medicine, Department of Internal Medicine, Taichung Tzu Chi Hospital, Taichung, Taiwan, R.O.C.

Department of Food Nutrition and Health Biotechnology, Asia University, Taichung, Taiwan, R.O.C.

出版信息

In Vivo. 2023 Jul-Aug;37(4):1504-1510. doi: 10.21873/invivo.13235.

DOI:10.21873/invivo.13235

PMID:37369482

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10347960/

Abstract

BACKGROUND/AIM: Impaired DNA repair capacity may play a critical role in genome instability and carcinogenesis. However, the impact of DNA ligase 1 (Lig1) genotypes on tumorigenesis remains unclear. This study aimed to investigate the contribution of Lig1 rs20579 genotypes to the risk of developing lung cancer, and review the related literature.

MATERIALS AND METHODS

Polymerase chain reaction-restriction fragment length polymorphism analysis was used to determine the genotypes of Lig1 rs20579 and evaluate their association with lung cancer risk among 358 lung cancer cases and 716 age- and sex-matched cancer-free control subjects.

RESULTS

The distribution of GG, AG, and AA genotypes for Lig1 rs20579 was 77.1%, 20.8%, and 2.1% among the controls, and 76.0%, 21.5%, and 2.5% among the lung cancer cases (p for trend=0.8686). There was no significant difference in the distribution of AG and AA genotypes between the two groups (p=0.8257 and 0.8098, respectively). Allelic frequency analysis indicated that individuals carrying the variant A allele for Lig1 rs20579 had a non-significant 1.07-fold higher risk of developing lung cancer than those carrying the wild-type G allele [95% confidence interval (CI)=0.82-1.40, p=0.6639]. Furthermore, no differential distribution of the Lig1 rs20579 genotype was found among non-smokers (p=0.9910) or smokers (p=0.9001).

CONCLUSION

In contrast to Americans, Lig1 rs20579 genotypes do not appear to play a critical role in determining susceptibility to lung cancer among Taiwanese individuals.

摘要

背景/目的：DNA 修复能力受损可能在基因组不稳定和致癌作用中发挥关键作用。然而，DNA 连接酶 1（Lig1）基因型对肿瘤发生的影响尚不清楚。本研究旨在探讨 Lig1 rs20579 基因型对肺癌发病风险的影响，并复习相关文献。

材料和方法

采用聚合酶链反应-限制性片段长度多态性分析方法，检测 Lig1 rs20579 基因型，并在 358 例肺癌病例和 716 例年龄和性别匹配的无癌症对照中评估其与肺癌风险的相关性。

结果

对照组中 Lig1 rs20579 的 GG、AG 和 AA 基因型分布分别为 77.1%、20.8%和 2.1%，肺癌病例组分别为 76.0%、21.5%和 2.5%（趋势检验 p=0.8686）。两组间 AG 和 AA 基因型的分布无显著差异（p=0.8257 和 0.8098）。等位基因频率分析表明，携带 Lig1 rs20579 变异 A 等位基因的个体患肺癌的风险比携带野生型 G 等位基因的个体高 1.07 倍（95%置信区间 0.82-1.40，p=0.6639）。此外，Lig1 rs20579 基因型在不吸烟者（p=0.9910）或吸烟者（p=0.9001）中的分布无差异。