The association between NLGN4 gene variants and the incidence of autism spectrum disorders in Guilan, Iran

IF 2.9 Q3 NEUROSCIENCES IBRO Neuroscience Reports Pub Date : 2025-06-01 Epub Date: 2025-02-08 DOI:10.1016/j.ibneur.2025.01.018
Sepideh Atefrad , Aidi Yousefnejad , Niloofar Faraji , Parvaneh Keshavarz
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Abstract

Autism Spectrum Disorder (ASD) is a developmental disorder characterized by impaired social interaction, communication skills, and repetitive behaviours. This study aimed to investigate the association between variants of the Neuroligin-4 (NLGN4) gene (rs1882260 and rs3810688) and the incidence of ASD in North of Iran in the ASD group (n = 60) and control group (n = 60). DNA was isolated from whole blood, saliva, or hair samples. The targeted variants were genotyped using the Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR) technique. Genetic analyses were conducted using SNPAlyze ver. 8.1. Results revealed a significant difference of rs3810688 polymorphism in the NLGN4 gene in both genotypic and allelic frequency distributions between the ASD and control groups (P < 0.05). The GG genotype of rs3810688 polymorphism exhibited a significant association with an elevated risk of ASD in contrast to the CC genotype, as revealed under the co-dominant model (OR=4.2; 95 %CI, 1.25–14.05; P = 0.019). The study illustrated the possible role of rs3810688 polymorphism of NLGN4 in increasing the incidence of ASD among newborns in Guilan province. Also, the G-C haplotype was found to be a protective variant against ASD.
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伊朗吉兰地区NLGN4基因变异与自闭症谱系障碍发病率之间的关系
自闭症谱系障碍(ASD)是一种发育障碍,其特征是社交互动、沟通技巧受损和重复行为。本研究旨在探讨伊朗北部地区ASD组(n = 60)和对照组(n = 60)神经素-4 (NLGN4)基因(rs1882260和rs3810688)变异与ASD发病率的关系。DNA是从全血、唾液或头发样本中分离出来的。使用扩增难解突变系统-聚合酶链反应(ARMS-PCR)技术对目标变异进行基因分型。采用SNPAlyze进行遗传分析。8.1. 结果显示,NLGN4基因rs3810688多态性在ASD组和对照组的基因型和等位基因频率分布上均存在显著差异(P <; 0.05)。在共显性模型下发现,rs3810688多态性的GG基因型比CC基因型与ASD风险升高有显著相关性(OR=4.2;95 % CI, 1.25 - -14.05; = 0.019页)。本研究提示NLGN4 rs3810688多态性在桂兰地区新生儿ASD发病率增高中的可能作用。此外,G-C单倍型被发现是抗ASD的保护性变异。
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来源期刊
IBRO Neuroscience Reports
IBRO Neuroscience Reports Neuroscience-Neuroscience (all)
CiteScore
2.80
自引率
0.00%
发文量
99
审稿时长
14 weeks
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