Systematic review of the literature on single-nucleotide polymorphisms within the neuroligin (NLGN) gene in the development of autism spectrum disorder

Streszczenie

Introduction: Recently, multiple studies have attempted to explain the pathophysiology of autism spectrum disorder. Many researchers have suggested the potential role of mutations in genes encoding proteins called neuroligins as one of the triggers of autism. Potentially more than one factor is causing the development of ASD. Material and methods: We reviewed publications obtained from PubMed, the Cochrane Library, APA PsychNET and Google Scholar. Articles were selected based on keywords such as “autism”, “ASD”, and “neuroligins”. For the final analysis, 8 qualified articles were published from January 2008 to August 2022. Results: Studies conducted recently have drawn our attention to the significant relationship between autism and NLGN mutations in some autistic populations. One of the studies showed a significant association between blockades of SNPs in the NLGN4X. The second confirmed that the three-marker haplotype blockade was related to an increased risk of ASD in males. On the other hand, one publication stated that SNPs found in the studied population did not significantly differ in allele frequency between ASD patients and controls. Conclusions: Mutations in the NLGN gene should be investigated further as ASD factors. The results of these studies are not consistent. Some of these findings confirm the association between ASD and mutations in neuroligins. At the same time, others negate any links in that matter. It is possible that the ethnicity of the patients influenced the research outcomes. More studies with larger study groups are needed to clarify discrepancies between the authors.