THADA基因,全称为甲状腺腺瘤相关基因,是一个位于2p21染色体上的基因。该基因编码的蛋白在多种生物学过程中发挥作用,包括葡萄糖稳态、胰岛素分泌、甲状腺肿瘤的发生发展等。THADA基因的突变和多态性可能与多种疾病的发生发展相关,如2型糖尿病、多囊卵巢综合征、前列腺癌和甲状腺肿瘤等。
研究表明,THADA基因的突变和多态性可能与2型糖尿病的发生发展相关。例如,一项研究发现,THADA基因的rs1465618单核苷酸多态性与欧洲人群的前列腺癌风险相关[1]。另一项研究显示,THADA基因的rs12468394和rs6544661多态性与哥伦比亚女性多囊卵巢综合征患者的睾酮水平升高相关[2]。此外,THADA基因的rs13429458和rs12478601多态性与伊朗女性多囊卵巢综合征患者的患病风险相关[4]。
此外,THADA基因的突变和多态性还可能与甲状腺肿瘤的发生发展相关。例如,一项研究发现,THADA基因与IGF2BP3基因的融合在甲状腺细针穿刺活检中与“非侵袭性滤泡性甲状腺肿瘤伴乳头状核特征”的通路相关[3]。另一项研究比较了RET/PTC融合和THADA/IGF2BP3融合在甲状腺结节中的临床行为,发现THADA/IGF2BP3融合的甲状腺结节表现出更惰性的行为[5]。
综上所述,THADA基因的突变和多态性与多种疾病的发生发展相关,包括2型糖尿病、多囊卵巢综合征、前列腺癌和甲状腺肿瘤等。进一步研究THADA基因的功能和作用机制,有助于深入理解相关疾病的发病机制,为疾病的预防和治疗提供新的思路和策略。
参考文献:
1. Zhao, Fan, Xu, Yong, Yang, Kuo, Wang, Jianye, Yang, Ze. 2014. THADA gene polymorphism and prostate cancer risk: a meta-analysis. In Oncology research and treatment, 37, 106-10. doi:10.1159/000360206. https://pubmed.ncbi.nlm.nih.gov/24685913/
2. Alarcón-Granados, Maria Camila, Moreno-Ortíz, Harold, Esteban-Pérez, Clara Inés, Camargo-Villalba, Gloria Eugenia, Forero-Castro, Maribel. 2022. Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study. In Heliyon, 8, e09673. doi:10.1016/j.heliyon.2022.e09673. https://pubmed.ncbi.nlm.nih.gov/35711992/
3. Zand, Amanda, Kim, Teresa H, Rodriguez, Erika F, Moatamed, Neda A. 2024. THADA-IGF2BP3 gene fusions in thyroid fine needle aspiration is involved in the pathway to "noninvasive follicular thyroid neoplasm with papillary-like nuclear features". In Diagnostic cytopathology, 52, 627-632. doi:10.1002/dc.25373. https://pubmed.ncbi.nlm.nih.gov/38877784/
4. Naserpoor, Leila, Jannatifar, Rahil, Roshanaei, Kambiz, Khoshandam, Mohadeseh, Kallhor, Naser. . Association of rs13429458 and rs12478601 Single Nucleotide Polymorphisms of THADA Gene with Polycystic Ovary Syndrome. In International journal of fertility & sterility, 16, 36-41. doi:10.22074/IJFS.2021.524795.1090. https://pubmed.ncbi.nlm.nih.gov/35103430/
5. Tali, George, Payne, Alexandra E, Hudson, Thomas J, Tamilia, Michael, Forest, Véronique-Isabelle. 2023. The Difference in Clinical Behavior of Gene Fusions Involving RET/PTC Fusions and THADA/IGF2BP3 Fusions in Thyroid Nodules. In Cancers, 15, . doi:10.3390/cancers15133394. https://pubmed.ncbi.nlm.nih.gov/37444504/