| 钱建成,金燕,罗燕,施军平.PNPLA3基因与非酒精性脂肪性肝病发生、发展相关性研究[J].浙江中西医结合杂志,2016,26(7): |
| PNPLA3基因与非酒精性脂肪性肝病发生、发展相关性研究 |
| The Correlation of the PNPLA3 with Non-alcoholic Fatty Liver Disease |
| 投稿时间：2015-12-10 修订日期：2016-04-01 |
| DOI： |
| 中文关键词: 非酒精性脂肪性肝病，PNPLA3，单核苷酸多态性 |
| 英文关键词: |
| 基金项目:国家科技部973课题(2012CB517501) |
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| 中文摘要: |
| 【】 目的 分析中国成人非酒精性脂肪性肝病(NAFLD)患者PNPLA3基因多态性与肝脏损害的相关性,探讨遗传因素在中国成人NAFLD发生和发展中的作用。方法 2012年1月到2013年1月连续收集106例NAFLD患者和100名年龄、性别相匹配的健康人。用测序分型法和Taqman探针分型法分别测定所有纳入者的rs738409、rs2294918的单核苷酸多态性(SNP)。同时测定患者肝功能(ALT、AST、GGT)、空腹血糖(FBG)、空腹胰岛素组(FINS)、总胆固醇(TC)、甘油三酯(TG)、高密度脂蛋白胆固醇(HDL-C)、低密度脂蛋白胆固醇(LDL-C)水平,以及血压、身高、体重、体重指数(BMI)；用稳态模型评估法计算胰岛素抵抗指数(HOMA-IR)。结果 rs738409患者组突变纯合型GG高于对照组,CC型则低于对照组,且差异有统计学意义(P<0.05),携带等位基因G的NAFLD患者CG/GG组较CC组具有更高ALT、GGT和TG(P<0.05)；rs2281135患者组突变纯合型AA高于对照组,野生GG型则低于对照组,且差异有统计学意义(P<0.05),携带突变基因A的患者较GG纯合子具有更高ALT、GGT,且有统计学意义(P<0.05)。结论 PNPLA3 rs738409和rs2281135多态性与NAFLD遗传易感性有显著相关性。2.PNPLA3 rs738409等位基因G和rs2281135等位基因A可增加肝损害(ALT、GGT)的风险,且与胰岛素抵抗没有关系。 |
| 英文摘要: |
| 【】 Objective To analyze the correlation of adult non-alcoholic fatty liver disease (NAFLD) patients PNPLA3 gene polymorphism with liver damage ,explore the genetic factors in the occurrence and development in chinese NAFLD patients. Methods January 2012 to January 2013, continuous collection of 106 cases of patients with NAFLD and 100 age and sex-matched healthy people. Sequencing typing method and Taqman probe typing method were measured included the rs738409, rs2294918 single nucleotide polymorphism (SNP). Simultaneous determination of liver function (ALT, AST, GGT), fasting blood glucose (FBG), fasting insulin (FINS), total cholesterol (TC), triglyceride (TG), high density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) levels, as well as blood pressure, height, weight, body mass index (BMI); homeostasis model assessment insulin resistance index (HOMA-IR). Result The rs738409 genotype GG was higher in the group of patients with mutations in the CC type lower than the control group, and the difference was statistically significant (P <0.05), carrying the G allele in patients with NAFLD CG / GG group compared with the CC group with higher ALT, GGT and TG (P <0.05); mutant Genotype AA higher than the control group of patients with rs2281135, wild GG genotype than the control group, and the difference was statistically significant (P <0.05), carrying mutationsthe gene A patients compared with GG homozygotes have higher ALT, GGT, and was statistically significant (P <0.05). Conclusion Significant correlation PNPLA3 rs738409 and rs2281135 polymorphism with NAFLD genetic susceptibility. 2.PNPLA3 rs738409 G allele and rs2281135 allele A may increase the risk of liver damage (ALT, GGT), but no insulin resistance. |
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