摘要
目的探究patatin样磷脂酶域3(PNPLA3)rs738409(C>G)和尿苷二磷酸葡萄糖醛酸转移酶1A1(UGT1A1)rs10929303(C>T)对儿童青少年非酒精性脂肪性肝病(NAFLD)的联合作用,为NAFLD的遗传学研究提供科学依据。方法选取1027名7~18岁儿童青少年作为研究对象,由专职人员调查一般情况和既往病史,测量身高、体质量等,进行肝脏B超检查,并采集清晨空腹静脉血,测量血生化指标;提取DNA,对PNPLA3 rs738409和UGT1A1 rs10929303进行基因分型。用logistic回归分析2个基因多态性与NAFLD关联及其联合作用。据资料不同采用t检验、Mann-Whitney U检验或χ^(2)检验进行统计学分析。结果PNPLA3 rs738409的GG基因型和UGT1A1 rs10929303的CC基因型与儿童NAFLD发生风险增加相关,分别增加89%(OR=1.89,95%CI:1.11~3.23,P=0.019)和96%(OR=1.96,95%CI:1.21~3.17,P=0.006),且同时携带上述2种基因型者患NAFLD的风险较同时不携带者增加306%(OR=4.06,95%CI:1.90~8.66,P<0.001)。结论PNPLA3和UGT1A1二个基因多态性的联合作用可显著增加儿童NAFLD的发生风险,为阐明NAFLD的遗传易感性提供了新的证据。
Objective To investigate the combined effects of patatin-like phospholipase domain containing 3(PNPLA3)rs738409(C>G)and uridine diphosphate glucuronosyltransferase 1A1(UGT1A1)rs10929303(C>T)on nonalcoholic fatty liver disease(NAFLD)in children and adolescents so as to provide scientific evidence for NAFLD genetic research.Methods 1027 children and adolescents aged 7-18 were selected as the research subjects.The general situation,past medical history,height and body weight measurements,and B-mode ultrasound test of the liver were investigated by dedicated full-time personnel.In addition,the morning fasting venous blood was collected to measure the blood biochemical indicators.DNA was extracted and genotyped for PNPLA3 rs738409 and UGT1A1 rs10929303.Logistic regression analysis was used to analyze the association and combined effect of the two gene polymorphisms and NAFLD.Statistical analysis was performed by t-test,Mann-Whitney U test,or c2 test according to different data.Results The GG genotype of PNPLA3 rs738409 and the CC genotype of UGT1A1 rs10929303 were associated with an increased risk of developing NAFLD in children by 89%(OR=1.89,95%CI:1.11-3.23,P=0.019)and 96%(OR=1.96,95%CI:1.21-3.17,P=0.006),respectively,while the concurrent risk of NAFLD in those who carried the above two genotypes increased by 306%compared with those who did not carry both genotypes(OR=4.06,95%CI:1.90~8.66,P<0.001).Conclusion The combined effect of PNPLA3 and UGT1A1 gene polymorphisms can significantly increase the risk of NAFLD in children,providing new evidence for elucidating the genetic susceptibility to NAFLD.
作者
张萍萍
宋洁云
王海俊
王辉
Zhang Pingping;Song Jieyun;Wang Haijun;Wang Hui(Department of Maternal and Child Health,School of Public Health,Peking University,Beijing 100191,China;Institute of Child and Adolescent Health,Peking University,Beijing 100191,China)
出处
《中华肝脏病杂志》
CAS
CSCD
北大核心
2023年第7期723-728,共6页
Chinese Journal of Hepatology
