Variations de gènes Neuropilin-2 rs849563 et susceptibilité à l'autisme dans la population iranienne: une étude cas-témoins

Aperçu: G.M.

Les troubles du spectre de l'autisme (TSA) sont des perturbations du développement neurologique habituellement diagnostiquées au cours des trois premières années de la vie de l'enfant qui se caractérisent par des déficiences de la communication verbale et non verbale, des problèmes d'interactions sociales et des comportements répétitifs. Le gène de la neuropiline-2 (NRP2) a été montré à la fois pour guider les axones et pour contrôler la migration neuronale dans le système nerveux central (SNC). Dans cette étude, l'association entre le gène NRP2 et l'autisme à l'aide d'une cohorte de 120 enfants iraniens (50 cas avec autisme et 70 cas témoins) a été analysée.  

Les résultats de cette étude ont montré qu'il existe une association significative entre le polymorphisme rs849563 et l'autisme dans la population étudiée. Cependant, afin d'obtenir une conclusion définitive, des études plus larges avec plus d'échantillons sont nécessaires pour confirmer les résultats de cette étude. 

Metab Brain Dis. 2017 May 8. doi: 10.1007/s11011-017-0024-2.

Neuropilin-2 rs849563 gene variations and susceptibility to autism in Iranian population: A case-control study

Hosseinpour M¹, Mashayekhi F², Bidabadi E³, Salehi Z¹.

Author information

1

Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran.

2

Department of Biology, Faculty of Sciences, University of Guilan, Rasht, Iran. mashayekhi@guilan.ac.ir.

3

Faculty of Medicine, Department of Child Neurology, Guilan University of Medical Sciences, Rasht, Iran.

Abstract

Autism spectrum disorders (ASD) are neurodevelopmental disruptions usually diagnosed in the first three years of child's life that characterized by some impairments in verbal and nonverbal communication, problems in social interactions and repetitive behaviors. The neuropilin-2 (NRP2) gene has been shown to both guide axons and control neuronal migration in the central nervous system (CNS). In this study the association between the NRP2 gene and autism using a cohort of 120 Iranian children (50 cases with autism and 70 control cases) was analyzed. Single nucleotide polymorphism (SNP) was genotyped by the polymerase chain reaction-based restriction fragment length polymorphism (PCR-RFLP) analyses. There was significant difference between the genotype and allele frequency between control and patient groups (P = 0.003 and P = 0.01, respectively). The prevalence of genotype frequencies of TT and TG in autistic children were 40% and 60%, respectively, while in controls were 68.5% and 31.5%, respectively. The heterozyote TG was associated with an increased risk of autism compared with TT genotype (OR = 3.72, 95%CI = 1.53-6.95, P = 0.02). The allele frequencies of T and G in autistic children were 78.5% and 21.4%, respectively and in controls were 84.2% and 15.7%, respectively. The NRP2 G allele conferred a 2.29-fold increased risk to autism relative to the T allele (OR = 2.29, 95%CI = 1.23-4.29, P = 0.009). The results of this study showed that there is a significant association between rs849563 polymorphism and autism in the studied population. However in order to obtain a definitive conclusion larger studies with more samples are required to confirm the results of this study.

PMID: 28484884

DOI: 10.1007/s11011-017-0024-2