肝素酶基因多态性与子宫内膜癌易感性的相关性。
Correlation between heparanase gene polymorphism and susceptibility to endometrial cancer.
机构信息
Department of Gynecology and Obstetrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Obstetrics, Gynecology, Pediatric Disease, and Birth Defects, Ministry of Education, West China Second University Hospital, Chengdu, China.
出版信息
Mol Genet Genomic Med. 2020 Oct;8(10):e1257. doi: 10.1002/mgg3.1257. Epub 2020 Sep 1.
BACKGROUND
Endometrial cancer is one of the three most common malignancies in the female genital tract. Previous studies have demonstrated the association between heparanase (HPSE, OMIM 604,724) single-nucleotide polymorphism (SNP) and cancer risk in several cancers. However, its role in endometrial cancer remains unclear. The present study investigated the effects of HPSE SNPs on the susceptibility and clinicopathological parameters in patients with endometrial cancer.
METHODS
HPSE SNPs of rs4693608 (G > A) and rs4364254 (C > T) were analyzed using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) assay in 270 endometrial cancer patients and 320 healthy controls.
RESULTS
The investigation indicated that the HPSE SNP rs4693608 with GG showed a protective effect from EC in both codominant (adjusted OR = 0.41, 95%CI = 0.21-0.81, p = .026) and recessive models (adjusted OR = 0.43, 95%CI = 0.22-0.82, p = .0076). No significant differences were found in the incidences of EC patients with the rs4364254 polymorphisms compared to controls. Moreover, a significantly increased distribution of A/A (rs4693608) was observed in patients with grade ≥ 2 (p = .03) and in patients with positive cervical invasion (p = .042) while patients with T/C (rs4364254) had lower tumor grade.
CONCLUSION
Our study suggested that HPSE SNP of rs4693608 correlated strongly with susceptibility to EC, and HPSE SNPs might be a potential biomarker for prognosis of endometrial cancer.
背景
子宫内膜癌是女性生殖道三大常见恶性肿瘤之一。先前的研究表明，肝素酶（HPSE，OMIM 604,724）单核苷酸多态性（SNP）与几种癌症的癌症风险之间存在关联。然而，其在子宫内膜癌中的作用尚不清楚。本研究探讨了 HPSE SNP 对子宫内膜癌患者易感性和临床病理参数的影响。
方法
采用聚合酶链反应-限制性片段长度多态性（PCR-RFLP）分析 270 例子宫内膜癌患者和 320 例健康对照者的 HPSE SNP rs4693608（G>A）和 rs4364254（C>T）。
结果
研究表明，HPSE SNP rs4693608 的 GG 基因型在显性模型（调整后的 OR=0.41，95%CI=0.21-0.81，p=0.026）和隐性模型（调整后的 OR=0.43，95%CI=0.22-0.82，p=0.0076）中均显示出对 EC 的保护作用。与对照组相比，rs4364254 多态性的 EC 患者发生率无显著差异。此外，在分级≥2 级（p=0.03）和宫颈浸润阳性（p=0.042）的患者中，rs4693608 的 A/A（rs4693608）分布显著增加，而 rs4364254 的 T/C（rs4364254）患者的肿瘤分级较低。
结论
本研究表明，HPSE SNP rs4693608 与 EC 的易感性密切相关，HPSE SNP 可能是子宫内膜癌预后的潜在生物标志物。
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