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TERT-CLPTM1L 基因遗传变异与中国女性非吸烟者肺癌风险的关系。

Genetic variations in TERT-CLPTM1L genes and risk of lung cancer in Chinese women nonsmokers.

机构信息

Department of Epidemiology, School of Public Health, China Medical University, Shenyang, China.

出版信息

PLoS One. 2013 May 30;8(5):e64988. doi: 10.1371/journal.pone.0064988. Print 2013.

Abstract

BACKGROUND

The TERT gene is the reverse transcriptase component of telomerase and is essential for the maintenance of telomere DNA length, chromosomal stability and cellular immortality. CLPTM1L gene encodes a protein linked to cisplatin resistance, and it is well conserved and express in various normal or malignant tissues, including lung.

METHODS

To test this hypothesis, we genotyped for two significant SNPs TERT-rs2736098 and CLPTM1L-rs4016981 in a case-control study with 501 cancer cases and 576 cancer-free controls in Chinese nonsmoking population. Information concerning demographic and risk factors was obtained for each case and control by a trained interviewer. Gene polymorphisms were determined by TaqMan methodology.

RESULTS

We found that the homozygous variant genetic model of TERT gene was associated with a significantly increased risk of lung cancer with adjusted OR of 1.72(95%CI = 1.19-2.51, P = 0.004 for heterogeneity). The joint effect of TERT and CLPTM1L increased risk for lung cancer with adjusted OR is 1.31(95%CI = 1.00-1.74, P = 0.052 for heterogeneity).

CONCLUSION

Genetic variants in TERT and CLPTM1L may affect the susceptibility of lung cancer, especially adenocarcinoma in Chinese women nonsmokers.

摘要

背景

TERT 基因是端粒酶的逆转录酶成分,对于维持端粒 DNA 长度、染色体稳定性和细胞永生至关重要。CLPTM1L 基因编码一种与顺铂耐药相关的蛋白质,它在各种正常或恶性组织中都得到很好的保守和表达,包括肺。

方法

为了验证这一假设,我们在一个包含 501 例癌症病例和 576 例无癌症对照的中国非吸烟人群的病例对照研究中对两个有意义的 SNP(TERT-rs2736098 和 CLPTM1L-rs4016981)进行了基因分型。每个病例和对照的人口统计学和危险因素信息均由经过培训的访谈员获得。基因多态性通过 TaqMan 方法确定。

结果

我们发现 TERT 基因的纯合变异遗传模型与肺癌的风险显著增加相关,调整后的比值比(OR)为 1.72(95%CI=1.19-2.51,P=0.004 用于异质性)。TERT 和 CLPTM1L 的联合作用增加了肺癌的风险,调整后的 OR 为 1.31(95%CI=1.00-1.74,P=0.052 用于异质性)。

结论

TERT 和 CLPTM1L 中的遗传变异可能会影响中国女性非吸烟者患肺癌的易感性,尤其是腺癌。

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