Association study rs۳۸۱۰۶۸۸ of NLGN۴ gene with Autism spectrum in an Iranian population

Backgrounds: Autism is a heterogeneous and multifactorial disease that results from theinteraction between genetic vulnerability and environmental factors. Mutations of the NLGN۴gene define a new, relatively less complex genetic syndrome identified within families withASD. The NLGN۴ gene is located on chromosome Xp۲۲.۳۳, in an X-specific region near thejunction of the pseudo-autosomal region. The aim of current study is to detect the geneticassociation of NLGN۴ gene variant rs۳۸۱۰۶۸۸ with occurrence of ASD in Iranian population.Materials and Methods: Samples were obtained from ۶۰ patients diagnosed with Autism and۶۰ controls subjects. Genomic DNA was extracted from whole-blood samples and genotyped bytri-primer amplification refractory mutation system PCR (Tri-ARMS-PCR). Finally, thestatistical analysis was performed by MedCalc software.Results: In rs۳۸۱۰۶۸۸ polymorphism of NLGN۴ gene There is no difference allelic frequency inthis polymorphism between cases and controls, but in GG genotype significantly increased therisk of Autism in comparison with the CC genotype in the co-dominant model (OR = ۴.۲۲, ۹۵%CI ۱.۲۵-۱۴.۰۵; p = ۰.۰۱۹).Conclusion: In conclusions rs۳۸۱۰۶۸۸ of NLGN۴ gene is associated with occurrence of autismin an Iranian population.

Keywords:

Autism , NLGN۴ , AUTS۲ , Polymorphism