Lampropoulou Dimitra Ioanna, Laschos Konstantinos, Aravantinos Gerasimos, Georgiou Konstantinos, Papiris Konstantinos, Theodoropoulos George, Gazouli Maria, Filippou Dimitrios
Medical Oncology, General Oncology Hospital of Kifissia "Agioi Anargiroi", Athens 14564, Greece.
1 Department of Propaedeutic Surgery, Hippokration General Hospital of Athens, Athens Medical School, National and Kapodistrian University of Athens, Athens 11527, Greece.
World J Clin Cases. 2021 Mar 16;9(8):1785-1792. doi: 10.12998/wjcc.v9.i8.1785.
Cholangiocarcinoma (CCA) represents a rare but highly aggressive malignancy that is often challenging to diagnose, especially in early stages. The role of existing tumor biomarkers for CCA diagnosis, remains controversial due to their low sensitivity and specificity. Increasing evidence has implicated long non-coding ribonucleic acid polymorphisms with cancer susceptibility in a variety of tumor types. The association between long non-coding ribonucleic acid homeobox protein transcript antisense intergenic ribonucleic acid (HOTAIR) polymorphisms and CCA risk has not been reported yet.
To investigate the influence of HOTAIR variants on the risk of CCA development.
We conducted a case-control study in which three HOTAIR single nucleotide polymorphisms (rs920778, rs4759314 and rs7958904) were genotyped in a Greek cohort. Our study population included 122 CCA patients (80 males and 42 females) and 165 healthy controls. The polymorphisms under investigation were examined in peripheral blood samples.
HOTAIR rs4759314 AG and GG genotypes were associated with a significantly increased CCA risk [ = 0.004, odds ratio: 3.13; 95% confidence interval: 1.65-5.91 and = 0.005, odds ratio: 12.31; 95% confidence interval: 1.48-101.87, respectively]. However, no significant associations of HOTAIR rs920778, and rs7958904 were detected. Similarly, we found no significant associations between rs4759314 AA genotype and CCA susceptibility.
HOTAIR rs4759314 AG and GG genotypes may be implicated with CCA development and may serve as a potential diagnostic biomarker.
胆管癌（CCA）是一种罕见但侵袭性很强的恶性肿瘤，其诊断往往具有挑战性，尤其是在早期阶段。由于现有肿瘤生物标志物的敏感性和特异性较低，其在CCA诊断中的作用仍存在争议。越来越多的证据表明，长链非编码核糖核酸多态性与多种肿瘤类型的癌症易感性有关。长链非编码核糖核酸同源盒蛋白转录反义基因间核糖核酸（HOTAIR）多态性与CCA风险之间的关联尚未见报道。
研究HOTAIR变异对CCA发生风险的影响。
我们进行了一项病例对照研究，在一个希腊队列中对三个HOTAIR单核苷酸多态性（rs920778、rs4759314和rs7958904）进行基因分型。我们的研究人群包括122例CCA患者（80例男性和42例女性）和165例健康对照。在周边血样中检测所研究的多态性。
HOTAIR rs4759314的AG和GG基因型与CCA风险显著增加相关[P = 0.004，比值比：3.13；95%置信区间：1.65 - 5.91和P = 0.005，比值比：12.31；95%置信区间：1.48 - 101.87]。然而，未检测到HOTAIR rs920778和rs7958904有显著关联。同样，我们发现rs4759314的AA基因型与CCA易感性之间无显著关联。
HOTAIR rs4759314的AG和GG基因型可能与CCA发生有关，并可能作为一种潜在的诊断生物标志物。
