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Effects of the MTOR and AKT1 genes polymorphisms on papillary thyroid cancer development
IUBMB Life ( IF 4.6 ) Pub Date : 2020-10-26 , DOI: 10.1002/iub.2388
Rostam Maruei-Milan 1 , Mohsen Saravani 1, 2 , Zahra Heidari 3 , Mina Asadi-Tarani 1 , Saeedeh Salimi 1, 2
Affiliation  

Papillary thyroid cancer (PTC) is the most common form of thyroid cancer, comprising 80% of all thyroid malignancies. The phosphoinositide‐3‐kinase–protein kinase B/Akt (PI3K‐PKB/Akt) pathway is a main pathway in control of cell growth. Activated mTOR and Akt are involved in the development and progression of the PTC. This study aimed to evaluate the effects of MTOR (rs2536 and rs2295080) and AKT1 (rs2494732, rs1130214, and rs1130233) polymorphisms on PTC susceptibility. This study was conducted on 131 PTC patients and 144 healthy subjects. Genotype analysis was done using polymerase chain reaction‐restriction fragment length polymorphism (PCR‐RFLP) methods. Our results showed no statistically significant association between MTOR rs2536, AKT1 rs2494732, and rs1130214 polymorphisms and PTC development. However, MTOR rs2295080 polymorphism was found to be associated with a decreased risk of PTC in dominant and allelic models. The TT genotype of AKT1 rs1130233 was significantly higher in the PTC group in comparison to the controls, with a 3.5‐fold increased risk for developing PTC. Furthermore, the allelic distribution also showed the T allele of rs1130233 as a risk factor for PTC occurrence. In conclusion, our results suggest the MTOR rs2295080 and AkT1 rs1130233 as the protective and risk factors for PTC development, respectively.

中文翻译:

MTOR和AKT1基因多态性对甲状腺乳头状癌发展的影响

甲状腺乳头状癌 (PTC) 是最常见的甲状腺癌,占所有甲状腺恶性肿瘤的 80%。磷酸肌醇-3-激酶-蛋白激酶 B/Akt (PI3K-PKB/Akt) 通路是控制细胞生长的主要通路。激活的 mTOR 和 Akt 参与了 PTC 的发展和进展。本研究旨在评估 MTOR(rs2536 和 rs2295080)和 AKT1(rs2494732、rs1130214 和 rs1130233)多态性对 PTC 易感性的影响。本研究对 131 名 PTC 患者和 144 名健康受试者进行。使用聚合酶链反应限制性片段长度多态性 (PCR-RFLP) 方法进行基因型分析。我们的结果显示 MTOR rs2536、AKT1 rs2494732 和 rs1130214 多态性与 PTC 发展之间没有统计学上的显着关联。然而,发现 MTOR rs2295080 多态性与显性和等位基因模型中 PTC 的风险降低有关。与对照组相比,PTC 组中 AKT1 rs1130233 的 TT 基因型显着更高,发生 PTC 的风险增加了 3.5 倍。此外,等位基因分布还显示 rs1130233 的 T 等位基因是 PTC 发生的危险因素。总之,我们的结果表明 MTOR rs2295080 和 AkT1 rs1130233 分别是 PTC 发展的保护和危险因素。等位基因分布还显示 rs1130233 的 T 等位基因是 PTC 发生的危险因素。总之,我们的结果表明 MTOR rs2295080 和 AkT1 rs1130233 分别是 PTC 发展的保护和危险因素。等位基因分布还显示 rs1130233 的 T 等位基因是 PTC 发生的危险因素。总之,我们的结果表明 MTOR rs2295080 和 AkT1 rs1130233 分别是 PTC 发展的保护和危险因素。
更新日期:2020-10-26
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