脂质代谢相关基因变异与肥胖儿童非酒精性脂肪肝易感性分析

发布时间：2018-04-18 08:06

本文选题：基因学 + 脂质代谢　；参考：《临床儿科杂志》2017年04期

【摘要】：目的探讨儿童脂质代谢相关基因变异与非酒精性脂肪肝(NAFLD)易感性。方法纳入6~18岁的肥胖伴脂肪肝儿童,进行超声检查、常规体检及生化检测,并提取外周血DNA,对36个脂质代谢相关目标基因进行二代测序,分析这些基因变异与脂肪肝的相关性。结果符合纳入标准的368例肥胖儿童中检出NAFLD 183例,占比为49.7%。在肥胖儿童中随机选取NAFLD及non-NAFLD各100例,NAFLD儿童的体质量、腰围、丙氨酸氨基转移酶(ALT)、三酰甘油(TG)、胆固醇、低密度脂蛋白(LDL)和载脂蛋白B(ApoB)均高于non-NAFLD儿童,两组比较差异有统计学意义(P均0.05);而两组间天冬氨酸氨基转移酶(AST)、碱性磷酸酶(ALP)、载脂蛋白A1(ApoA1)、空腹血糖、胰岛素、高密度脂蛋白(HDL)、游离脂肪酸(FFA)以及稳态模型胰岛素抵抗指数(HOMA-IR)的差异均无统计学意义(P均0.05);两组的胆红素水平均在正常范围。Logistic回归分析发现,编码微粒体三酰甘油转运蛋白(MTTP或MTP)的基因MTTP rs2306986(OR=2.70,95%CI:1.38~5.27)、MTTP rs 3792683(OR=7.34,95%CI:2.04~26.50)及编码含patatin样磷脂酶域3的基因PNPLA3rs 738409位点变异(OR=2.11,95%CI:1.31~4.48)是影响NAFLD发生的独立危险因素。结论MTTP rs 2306986、MTTP rs 3792683、PNPLA3 rs 738409基因变异可能增加儿童NAFLD易感性。
[Abstract]:Objective to investigate the relationship between gene variation related to lipid metabolism and susceptibility to NAF LDD in children with non-alcoholic fatty liver.Methods 18 years old obese children with fatty liver were examined by ultrasound, routine physical examination and biochemical examination, and peripheral blood DNA was extracted. 36 target genes related to lipid metabolism were sequenced in the second generation, and the correlation between these gene variations and fatty liver was analyzed.Results NAFLD was detected in 183 of 368 obese children (49.7%).The body weight, waist circumference, alanine aminotransferase (alt), triacylglycerol (TG), cholesterol, low density lipoprotein (LDL) and apolipoprotein (ApoB) of 100 children with NAFLD and non-NAFLD were all higher than those of non-NAFLD children.The difference between the two groups was statistically significant (P < 0.05), while the aspartate aminotransferase (AST), alkaline phosphatase (ALPN), apolipoprotein A _ (1) (ApoA _ (1)), fasting blood glucose (FBG), insulin (insulin), and aspartate aminotransferase (ASTX) were found in the two groups.There were no significant differences in HDLX, FFAA and HOMA-IRI between the two groups, but the bilirubin levels in the two groups were all within the normal range. Logistic regression analysis showed that there was no significant difference in the insulin resistance index (HOMA-IRI) between the two groups.The gene MTTP rs2306986, which encodes microsomal triacylglycerol transporter or MTP), is an independent risk factor affecting the occurrence of NAFLD. The gene MTTP rs2306986 / OR2.707 / 95 is the independent risk factor that affects the occurrence of NAFLD. It is also found that MTTPrs 3792683 OR7.34 / 95CI: 2.044 / 26.50) and the mutation of PNPLA3rs 738409 encoding patatin like phospholipase domain 3, OR2.119595 CI1: 1.31 / 4.48) are independent risk factors for the occurrence of MTTP3.Methylglycerol transporter gene (Rs2306986) is an independent risk factor for the occurrence of NAFLD.Conclusion the mutation of MTTP rs2306986 MTTP rs3792683 may increase the susceptibility to NAFLD in children.
【作者单位】：深圳市儿童医院;暨南大学第一医院;
【基金】：深圳市科创委创新基金项目(No.JCYJ20150403100317080)
【分类号】：R725.7

【参考文献】