Abstract: Objective To study the association of NRXN1 and NLGN1 with autism spectrum disorder(ASD) in Zhuhai,in order to provide the prevention of ASD. Methods A case-control study was conducted with 123 cases and 506 healthy controls who recruited from Zhuhai Maternal and Child Care Service Centre from 2011 to 2016. Genomic DNA was extracted from oral swabs and the single nucleotide polymorphism(SNP) geno types were determined by using a PCR-RFLP assay. Results There were no significant differences on the distribution of three SNPs (rs1045881 and rs11885824 in NRXN1,rs9855544 in NLGN1) between autism group and healthy controls (P＞0.05) .However,there were significant differences on genotype frequencies between cases and controls for all three polymorphisms. However,interaction between rs11885824 in NRXN1 and rs9855544 in NLGN1 was associated with ASD. The best model was two-locus(rs9855544,rs11885824,Testing accuracy 0.480,CVC10/10,P=0.040). Conclusions Single polymorphisms of rs1045881 and rs11885824 in NRXN1, rs9855544 in NLGN1 are not associated with ASD. However,the interaction between rs11885824 in NRXN1 and rs9855544 in NLGN1 may be involved in the susceptibility to ASD.

Key words: autism spectrum disorder, genetic polymorphism, NRXN1, NLGN1

摘要： 目的 探索珠海地区NRXN1和NLGN1基因多态性与儿童孤独症易感性的关系,为孤独症的防治提供科学依据。方法 采用病例对照的研究方法,选取2011－2016年就诊于珠海市妇幼保健院的123例珠海地区的孤独症患儿和506例健康对照。采用口腔拭子采集口腔上皮细胞以提取DNA,采用Sequenom Mass Array platform分型技术对NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544进行基因分型。结果 NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544位点基因型分布在孤独症组和健康对照组比较,差异无统计学意义;但NLGN1基因上的rs9855544与NRXN1基因上的rs11885824存在基因与基因间的交互作用(预测准确率为0.480,交叉验证一致性为10/10,P=0.040)。结论 NRXN1基因上的rs1045881和rs11885824以及NLGN1上的rs9855544位点基因多态性可能与孤独症易感性没有关联,但NLGN1基因上的rs9855544与NRXN1基因上的rs11885824之间的交互作用可能是孤独症易感性的影响因素。

关键词: 孤独症, 基因多态性, NRXN1, NLGN1