通過修改miR-485與CTNNB1結合，CTNNB1 rs2953多態性對中國漢族人群精神分裂癥易感性的影響

2018年7月，廣西醫科大學公共衛生學院(School of Public Health of Guangxi Medical University, Nanning, Guangxi, China) Li Su老師研究團隊在《Genes, Brain and Behavior》上發表論文：

“Influence of CTNNB1 rs2953 polymorphism on schizophrenia susceptibility in Chinese Han population through modifying miR-485 binding to CTNNB1”

“通過修改miR-485與CTNNB1結合，CTNNB1 rs2953多態性對中國漢族人群精神分裂癥易感性的影響”

Abstract：

Schizophrenia (SCZ) and bipolar disorder (BD) are two major neuropsychiatric diseases that are the most substantial causes of disability and mortality worldwide. CTNNB1 encodes beta-catenin, an important protein in canonical Wnt signaling. We aimed to investigate the association between the rs2953 of CTNNB1 and the risk of SCZ and BD and to further explore the function of rs2953. A total of 1658 samples (548 SCZ cases, 512 BD cases, and 598 controls) were examined in terms of the genotype of CTNNB1 rs2953. The mRNA expression level of CTNNB1 significantly increased in the SCZ and BD groups compared with that in the control group. Significant association remained between CTNNB1 3'-untranslated region (UTR) variant rs2953 and SCZ susceptibility (additive and dominant model) after gender and age were adjusted. rs2953 disrupted the binding of CTNNB1 and miR-485. miR-485 significantly suppressed the luciferase activity of CTNNB1-T vector by binding to the CTNNB1 3'-UTR containing the T allele of rs2953. The mRNA expression of CTNNB1 can be used as a biomarker for the diagnosis of SCZ and BD. The 3'-UTR variant rs2953 in CTNNB1 influences the risk of SCZ in the Han Chinese population and modifies the binding of miR-485 to CTNNB1.

摘要：

精神分裂癥(SCZ)和雙相情感障礙(BD)是兩種主要的神經精神疾病，是世界范圍內致殘和死亡的最主要原因。CTNNB1編碼β -連環蛋白，這是典型Wnt信號傳導的重要蛋白。科研人員旨在研究CTNNB1的rs2953與SCZ和BD風險之間的關系，并進一步探討rs2953的功能。對1658份樣本(548例SCZ病例、512例BD病例和598例對照)進行CTNNB1 rs2953基因型檢測。與對照組相比，SCZ組和BD組CTNNB1 mRNA表達水平顯著升高。調整性別和年齡后，CTNNB1 3′-非翻譯區(UTR)變異rs2953與SCZ易感性(加性和顯性模型)仍存在顯著相關性。rs2953破壞CTNNB1與miR-485的結合。miR-485通過結合含有rs2953 T等位基因的CTNNB1 3′-UTR，顯著抑制CTNNB1-T載體的熒光素酶活性。CTNNB1的mRNA表達可以作為診斷SCZ和BD的生物標志物，CTNNB1的3 ' -UTR變體rs2953影響漢族人群SCZ的風險，并改變miR-485與CTNNB1的結合。

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