Evaluation of SNP in the CDH8 and CDH10 Genes Associated with Autism Using In-Silico Tools

Authors : Azadeh Rezaeirad, Ömer Faruk Karasakal, Tuğba Kaman, Mesut Karahan

Pages : 213-222

Doi:10.55525/tjst.1344460

View : 82 | Download : 102

Publication Date : 2024-03-28

Article Type : Research Paper

Abstract :Autism spectrum disorder (ASD) is defined as a pervasive and multifactorial neurodevelopmental disorder (ND). It is characterized by repetitive behavioral patterns as well as symptoms of social interaction and communication disorder. The cadherin (CDH) superfamily is a large group of synaptic cell adhesion molecules and has been widely related with ND, including autism. The aim of this study is to evaluate the potentially deleterious missense single nucleotide polymorphisms (SNPs) in CDH8 and CDH10 genes, which are related with ASD and cause amino acid changes, using internet-based software tools. To identify potentially harmful missense SNPs; all SNPs were screened using SIFT, PolyPhen-2, PROVEAN, SNPs&GO, Meta-SNP, and SNAP2 software tools, and common deleterious ones were filtered out. Its effect on protein stabilization was investigated with I-Mutant 3.0 and MUpro tools. Three-dimensional models of these common damaging amino acid changes were evaluated with the HOPE software. As a result of in silico analysis of 577 missense SNPs in the CDH8 gene; The rs145143780 (Y572C) polymorphism common damaging ‎SNP has been detected by all software tools.‎ According to the results of the in silico analysis of 526 missense SNPs found in the CDH10 gene; The rs13174039 (V459G), rs147882578 (N485K), rs201423740 (Y306C), rs201956238 (F317L) and rs373340564 (R128C) common damaging SNPs have been identified in all polymorphisms by all software tools. As a result of this study, it is thought that the data obtained will make important contributions to future relevant experimental studies.
Keywords : Tek nükleotid polimorfizmi, CDH8, CDH10, in silico, otizm spektrum bozukluğu OSB