| 汤斌斌.SH2B3基因单核苷酸多态性与自身免疫性肝病的相关性分析[J].浙江中西医结合杂志,2020,30(11): |
| SH2B3基因单核苷酸多态性与自身免疫性肝病的相关性分析 |
| Analysis on correlation between SH2B3 gene single nueleotide polymorphism and autoimmune liver disease |
| 投稿时间：2020-05-06 修订日期：2020-09-28 |
| DOI： |
| 中文关键词: SH2B衔接蛋白3基因 自身免疫性肝病 单核苷酸多态性 |
| 英文关键词:SH2B adaptor protein 3 gene autoimmune liver disease single nueleotide polymorphism |
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| 中文摘要: |
| 目的：探讨SH2B衔接蛋白3（SH2B3）基因单核苷酸多态性与自身免疫性肝病的相关性。方法：选取2013年7月~2020年1月于本院就诊的162例自身免疫性肝病患者为研究对象，其中原发性胆汁性肝硬化患者84例（PBC组），自身免疫性肝炎患者78例（AIH组），同期选取72例健康体检者作为对照（Control组）。提取三组外周血基因组DNA，采用PCR法扩增SH2B3 rs3184504片段并进行基因测序，探究其基因多态性，采用酶联免疫吸附（ELISA）法检测血清中白细胞介素-12（IL-12）、白细胞介素-17（IL-17）表达水平，自动生化分析仪测定丙氨酸氨基转移酶（ALT）和γ-谷氨酰转肽酶（GGT）水平。结果：Control组基因型中CC型（占84.72%）最多，其次为CT型（占13.89%），TT型（占1.39%）最少，PBC组基因型中CT型（占46.43%）最多，其次为CC型（占41.67%），TT型（占11.90%）最少，AIH组基因型中CC型（占50.00%）最多，其次为CT型（占35.90%），TT型（占14.10%）最少，根据Hardy-Weinberg平衡定律，Control组、PBC组及AIH组各基因型的期望值和观测值符合Hardy-Weinberg平衡定律(P均＞0.05），提示群体来自同一孟德尔群体，所选样本进行群体遗传学研究具有代表性；各基因型患者ALT、GGT、IL-12、IL-17表达水平比较，差异均有统计学意义（P＜0.05）；CT型、TT型基因型是影响PBC发生的独立危险因素（P＜0.05），TT型基因型是影响AIH发生的独立危险因素（P＜0.05）。结论：SH2B3单核苷酸多态性与自身免疫性肝病有一定相关性，其中CT型基因型可能与PBC发生有关，TT型基因型可能与AIH发生有关。 |
| 英文摘要: |
| Objective: To investigate the correlation between SH2B adaptor protein 3 (SH2B3) gene single nucleotide polymorphism and autoimmune liver disease. Methods: 162 patients with autoimmune liver disease treated in our hospital from July 2013 to January 2020 were selected as the subjects, including 84 patients with primary biliary cirrhosis (PBC group) and 78 patients with autoimmune hepatitis (AIH group), at the same time, 72 healthy people were selected as the control group. Peripheral blood genomic DNA of three groups were extracted, the SH2B3 rs3184504 fragment was amplified by PCR and sequenced, and its gene polymorphism were explored, the expression levels of interleukin-12 (IL-12) and interleukin-17 (IL-17) in serum were detected by enzyme-linked immunosorbent assay (ELISA), and the levels of alanine aminotransferase (ALT) and γ-glutamyltranspeptidase (GGT) were measured by automatic biochemical analyzer. Results: In the control group, CC genotype (84.72%) was the most, followed by CT genotype (13.89%), and TT genotype (1.39%) was the least, in PBC group, the most common genotype was CT genotype (46.43%), followed by CC genotype (41.67%), and TT genotype (11.90%) was the least, in AIH group, CC genotype (50.00%) was the most, followed by CT genotype (35.90%), and TT genotype (14.10%) was the least, according to Hardy-Weinberg equilibrium law, the expected and observed values of each genotype in control group, PBC group and AIH group were in accordance with Hardy-Weinberg equilibrium law (P > 0.05), which suggesting that the population came from the same Mendelian population, and the selected samples were representative for population genetics research; the expression levels of ALT, GGT, IL-12 and IL-17 in different genotypes were significantly different (P < 0.05); CT genotype and TT genotype were independent risk factors for PBC (P < 0.05), while TT genotype was an independent risk factor for AIH (P < 0.05). Conclusions: SH2B3 single nucleotide polymorphism is related to autoimmune liver disease, among which, CT genotype may be related to PBC, and TT genotype may be related to AIH. |
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