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hTERT rs2736098 遗传变异与中国人群肝细胞癌易感性的关系:一项病例对照研究。

hTERT rs2736098 genetic variants and susceptibility of hepatocellular carcinoma in the Chinese population: a case-control study.

机构信息

Tianjin Medical University General Hospital, Tianjin 300071, China.

出版信息

Hepatobiliary Pancreat Dis Int. 2013 Feb;12(1):74-9. doi: 10.1016/s1499-3872(13)60009-0.

DOI:10.1016/s1499-3872(13)60009-0
PMID:23392802
Abstract

BACKGROUND

The human telomerase reverse transcriptase (hTERT) gene encodes the catalytic subunit of telomerase, which mediates pleiotropic effects, including the regulation of senescence and proliferation and plays an important role in carcinogenesis. This study attempts to clarify the genetic predisposition to hepatocellular carcinoma (HCC), focusing on the hTERT gene rs2736098 polymorphism.

METHOD

Four hundred patients with HCC and 400 non-cancer controls were genotyped to elucidate the potential association between hTERT rs2736098 polymorphism and HCC risks.

RESULTS

Compared with the controls, the patients with HCC had a lower frequency of G/G genotype (33.3% vs 44.3%, P=0.001) and a higher frequency of G/A (51.5% vs 39.5%, P=0.001). Allele genotypic frequencies in the patients differed from those of the controls (P=0.040). The data of this study rs2736098[A] allele contributed significantly to HCC risk in female patients (OR=1.78, 95% CI, 1.17-2.72, P=0.007), patients with HCV infection (OR=2.89, 95% CI, 1.08-7.70, P=0.031), non-drinker patients (OR=1.32, 95% CI, 1.06-1.65, P=0.015), and patients not affected by HBV (OR=1.77, 95% CI, 1.30-2.40, P<0.001).

CONCLUSIONS

rs2736098[A] may be an independent hereditary parameter in HCC, but some risk factors would cover up the association by more powerful hepatocarcinogenesis. These results are important guidance for further studies in detecting HCC-associated single nucleotide polymorphisms.

摘要

背景

人端粒酶逆转录酶(hTERT)基因编码端粒酶的催化亚单位,介导多效性效应,包括衰老和增殖的调节,并在肿瘤发生中起重要作用。本研究试图阐明肝细胞癌(HCC)的遗传易感性,重点研究 hTERT 基因 rs2736098 多态性。

方法

对 400 例 HCC 患者和 400 例非癌症对照进行基因分型,以阐明 hTERT rs2736098 多态性与 HCC 风险之间的潜在关联。

结果

与对照组相比,HCC 患者的 G/G 基因型频率较低(33.3% vs 44.3%,P=0.001),G/A 基因型频率较高(51.5% vs 39.5%,P=0.001)。患者的等位基因基因型频率与对照组不同(P=0.040)。本研究 rs2736098[A] 等位基因显著增加了女性患者(OR=1.78,95%CI,1.17-2.72,P=0.007)、HCV 感染患者(OR=2.89,95%CI,1.08-7.70,P=0.031)、非饮酒患者(OR=1.32,95%CI,1.06-1.65,P=0.015)和未受 HBV 影响的患者(OR=1.77,95%CI,1.30-2.40,P<0.001)的 HCC 风险。

结论

rs2736098[A]可能是 HCC 的独立遗传参数,但一些危险因素通过更强的肝癌发生机制掩盖了这种关联。这些结果为进一步研究 HCC 相关单核苷酸多态性提供了重要指导。

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