CD157/BST1基因多态性与孤独症谱系障碍发生风险关系研究  

Relationship between CD157/BST1 gene polymorphism and onset risk of autism spectrum disorder

作　　者：何美玲 张丽 徐建坤 张林霞[3] HE Meiling;ZHANG Li;XU Jiankun(Puyang Huimin Hospital,Puyang 457000,China)

机构地区：[1]濮阳惠民医院,河南濮阳457000 [2]濮阳县人民医院 [3]新乡医学院第一附属医院

出　　处：《精神医学杂志》2020年第3期205-208,共4页Journal of Psychiatry

基　　金：河南省医学科技攻关计划联合共建项目(编号:2017020145)。

摘　　要：目的研究CD157/BST1基因rs4301112位点单核苷酸多态性(SNP)与儿童孤独症谱系障碍(ASD)发生风险的关系。方法选取102例ASD患儿作为研究组,100名健康儿童为对照组,根据儿童孤独症评定量表(CARS)评分结果将ASD患儿分为轻中度组66例和重度组36例。采用Sanger测序法对受试儿童血液样本中CD157/BST1基因位点rs4301112进行测序,分析CD157/BST1基因位点rs4301112 SNP与ASD病情严重程度及发病风险的关系。结果研究组AA基因型分布频率低于对照组(P<0.05),AG基因型分布频率高于对照组(P<0.05);两组等位基因分布频率比较差异存在统计学意义(P<0.05)。显性模式下,两组基因型分布频率比较差异存在统计学意义(P<0.05)。ASD重度组AA基因型分布频率低于轻中度组(P<0.05),AG基因型分布频率高于轻中度组(P<0.05);轻中度组和重度组等位基因分布频率比较差异存在统计学意义(P<0.05)。Logistic回归分析显示AG+GG基因型是ASD发生的危险因素(P<0.05)。结论CD157/BST1基因rs4301112位点AG+GG基因型与ASD发生风险及病情严重程度有关。Objective To explore the relationship between single nucleotide polymorphism(SNP)at rs4301112 locus of gene CD157/BST1 and the onset risk of autism spectrum disorder(ASD).Methods A total of 102 children with ASD(study group)and 100 healthy controls(control group)were selected,and the study group was divided into mild to moderate group(66 cases)and severe group(36 cases)according to the results of Children Autism Rating Scale(CARS).The CD157/BST1 locus rs4301112 in blood samples of children was sequenced by Sanger sequencing,and the relationship between SNP of CD157/BST1 locus rs4301112 and the severity and onset risk of ASD was analyzed.Results The frequency of AA genotype in study group was lower than that in control group(P<0.05),and frequency of AG genotype was higher in study group than that in control group(P<0.05).The difference of allele frequencies between two groups was statistically significant(P<0.05).In the dominant mode,there was significant difference in the genotype frequencies between two groups(P<0.05).The frequency of AA genotype in ASD severe group was lower than that in mild to moderate group(P<0.05),and the frequency of AG genotype in ASD severe group was higher than that in mild to moderate group(P<0.05).There was significant difference in allele frequencies between mild to moderate group and severe group(P<0.05).Logistic regression analysis showed that AG+GG genotype was the risk factor for ASD(P<0.05).Conclusion The AG+GG genotype at rs4301112 locus of gene CD157/BST1 may be related to the onset risk and severity of ASD.

关 键 词：孤独症谱系障碍 CD157/BST1基因 rs4301112位点 单核苷酸多态性 

分 类 号：R749.94[医药卫生—神经病学与精神病学]