JAK2-STAT3基因多態(tài)與Bebcet病和Vogt-小柳原田綜合征遺傳易感性研究
發(fā)布時間：2018-09-10 12:37
【摘要】：目的：蛋白酪氨酸激酶2-信號轉(zhuǎn)導(dǎo)和轉(zhuǎn)錄活化因子3(JAK2-STAT3)所構(gòu)成的通路廣泛參與細胞增殖、分化、以及免疫調(diào)節(jié)等過程，是IL-12，IL-23等細胞因子信號轉(zhuǎn)導(dǎo)的重要途徑。最近的研究發(fā)現(xiàn)多發(fā)性硬化、潰瘍性結(jié)腸炎和強制性脊柱炎等多個自身免疫病的發(fā)生與JAK2-STAT3基因多態(tài)相關(guān)。由此本研究旨在探討同為自身免疫性疾病的Behcet病和Vogt-小柳原田綜合征在中國漢族患者中是否與JAK2-STAT3基因多態(tài)相關(guān)。 方法: PCR-RFLP、PCR-SSCP方法對Behcet患者、Vogt-小柳原田綜合征患者和615例正常對照J(rèn)AK2基因三個多態(tài)位點，STAT3基因四個多態(tài)位點進行基因分型。 結(jié)果: Behcet患者STAT3基因rs2293152的GG基因型頻率顯著高于正常對照（P=0.001,校正P=0.021）。STAT3基因多態(tài)與Vogt-小柳原田綜合征無關(guān)，JAK2基因多態(tài)與Behcet病和Vogt-小柳原田綜合征均無顯著相關(guān)性。 結(jié)論: STAT3基因rs2293152的GG基因型與Behcet病患者相關(guān)，，JAK2基因多態(tài)與Behcet病和Vogt-小柳原田綜合征均無相關(guān)性。
[Abstract]:Objective: protein tyrosine kinase 2-signal transduction and transcriptional activator 3 (JAK2-STAT3) pathway are involved in the process of cell proliferation, differentiation and immunomodulation, which are important pathways of IL-12,IL-23 and other cytokines signal transduction. Recent studies have found that multiple autoimmune diseases, such as multiple sclerosis, ulcerative colitis and mandatory spondylitis, are associated with JAK2-STAT3 gene polymorphism. The purpose of this study was to investigate the association of JAK2-STAT3 gene polymorphism with Behcet's disease and Vogt- Xiaoliu Harada syndrome in Chinese Han nationality. Methods: three polymorphic loci of JAK2 gene and four loci of STAT3 gene were genotyped by PCR-RFLP,PCR-SSCP in Behcet patients with Vogt- willow Harada syndrome and 615 normal controls. Results: the frequency of GG genotype of STAT3 gene rs2293152 in Behcet patients was significantly higher than that of normal controls (P0. 001, corrected P0. 021) .STAT3 gene polymorphism was not associated with Vogt- willow Harada syndrome. There was no significant correlation between JAK2 gene polymorphism and Behcet disease and Vogt- Xiaoyanagata syndrome. Conclusion: the GG genotype of STAT3 gene rs2293152 is not correlated with Behcet disease and Vogt- willow Harada syndrome.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2012
【分類號】：R773.9
本文編號：2234467
[Abstract]:Objective: protein tyrosine kinase 2-signal transduction and transcriptional activator 3 (JAK2-STAT3) pathway are involved in the process of cell proliferation, differentiation and immunomodulation, which are important pathways of IL-12,IL-23 and other cytokines signal transduction. Recent studies have found that multiple autoimmune diseases, such as multiple sclerosis, ulcerative colitis and mandatory spondylitis, are associated with JAK2-STAT3 gene polymorphism. The purpose of this study was to investigate the association of JAK2-STAT3 gene polymorphism with Behcet's disease and Vogt- Xiaoliu Harada syndrome in Chinese Han nationality. Methods: three polymorphic loci of JAK2 gene and four loci of STAT3 gene were genotyped by PCR-RFLP,PCR-SSCP in Behcet patients with Vogt- willow Harada syndrome and 615 normal controls. Results: the frequency of GG genotype of STAT3 gene rs2293152 in Behcet patients was significantly higher than that of normal controls (P0. 001, corrected P0. 021) .STAT3 gene polymorphism was not associated with Vogt- willow Harada syndrome. There was no significant correlation between JAK2 gene polymorphism and Behcet disease and Vogt- Xiaoyanagata syndrome. Conclusion: the GG genotype of STAT3 gene rs2293152 is not correlated with Behcet disease and Vogt- willow Harada syndrome.
【學(xué)位授予單位】：重慶醫(yī)科大學(xué)
【學(xué)位級別】：博士
【學(xué)位授予年份】：2012
【分類號】：R773.9
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