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Int. J. Mol. Sci. 2016, 17(10), 1765; doi:10.3390/ijms17101765

Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort

1
Institute of Biomedical Technologies, National Research Council, Via Fratelli Cervi 93, 20090 Segrate, Italy
2
Scientific Institute, IRCSS Eugenio Medea, 23842 Bosisio Parini, Italy
3
Scientific Institute, IRCSS Eugenio Medea, 72100 Brindisi, Italy
4
Department of Health Sciences, University of Milan, 20142 Milan, Italy
5
Sanipedia srl, via Ariosto 21, 20091 Bresso, Italy
6
Department of Chemistry and Biology, University of Salerno, Via Giovanni Paolo II 132, 84084 Fisciano, Italy
*
Author to whom correspondence should be addressed.
Academic Editor: Merlin G. Butler
Received: 10 August 2016 / Revised: 5 October 2016 / Accepted: 12 October 2016 / Published: 22 October 2016
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Abstract

Since involved in synaptic transmission and located on X-chromosome, neuroligins 3 and 4X have been studied as good positional and functional candidate genes for autism spectrum disorder pathogenesis, although contradictory results have been reported. Here, we performed a case-control study to assess the association between noncoding genetic variants in NLGN3 and NLGN4X genes and autism, in an Italian cohort of 202 autistic children analyzed by high-resolution melting. The results were first compared with data from 379 European healthy controls (1000 Genomes Project) and then with those from 1061 Italian controls genotyped by Illumina single nucleotide polymorphism (SNP) array 1M-duo. Statistical evaluations were performed using Plink v1.07, with the Omnibus multiple loci approach. According to both the European and the Italian control groups, a 6-marker haplotype on NLGN4X (rs6638575(G), rs3810688(T), rs3810687(G), rs3810686(C), rs5916269(G), rs1882260(T)) was associated with autism (odd ratio = 3.58, p-value = 2.58 × 10−6 for the European controls; odds ratio = 2.42, p-value = 6.33 × 10−3 for the Italian controls). Furthermore, several haplotype blocks at 5-, 4-, 3-, and 2-, including the first 5, 4, 3, and 2 SNPs, respectively, showed a similar association with autism. We provide evidence that noncoding polymorphisms on NLGN4X may be associated to autism, suggesting the key role of NLGN4X in autism pathophysiology and in its male prevalence. View Full-Text
Keywords: autism; genetics; neuroligins; SNPs; haplotype analysis; noncoding regions autism; genetics; neuroligins; SNPs; haplotype analysis; noncoding regions
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Landini, M.; Merelli, I.; Raggi, M.E.; Galluccio, N.; Ciceri, F.; Bonfanti, A.; Camposeo, S.; Massagli, A.; Villa, L.; Salvi, E.; Cusi, D.; Molteni, M.; Milanesi, L.; Marabotti, A.; Mezzelani, A. Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort. Int. J. Mol. Sci. 2016, 17, 1765.

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