Association of oxytocin receptor gene polymorphisms with autism spectrum disorder in Bengali of Bangladesh population

Lolo Wal Marzan,Mahadia Kumkum,Mahmood Ahmed Chowdhury,Mohammad Afzal Hossain,Shahin Akter,Soma Chowdhury Biswas

doi:10.3329/ajmbr.v6i2.48048

Abstract

Autism spectrum disorder (ASD) is a group of sex-biased neurodevelopmental disorders characterized by core deficits in social interaction, communication and behaviors. Several lines of evidence indicate that oxytocin signaling through its receptor (OXTR), is vital in a wide range of social behaviors and role of OXTR polymorphism in ASD development has also been established in several populations. Therefore, an attempt was taken to determine whether genetic variations in the oxytocin signaling system contribute to ASD susceptibility in a part of Bangladeshi (BEB) population. We have investigated the role of OXTR polymorphisms (rs53576, rs2254298, rs2228485 and rs237911) in ASD development through PCR-RFLP method, based on case studies. A significant frequency (p = 0.027) for OXTR ‘rs53576AA’ risk genotype was found to be associated with ASD which is consistent with the previous study in Chinese but Caucasian and Japanese population. Besides, no significant association has been found for other OXTR variants (rs2254298, rs2228485 and rs237911) in this study. Understanding of these significant association with ASD development could be open a new clue aimed at clinical marker development for ASD diagnosis and treatment in future. Asian J. Med. Biol. Res. June 2020, 6(2): 176-186

Highlights

Autism spectrum disorder (ASD) is a combination of neurodevelopmental disorders (Norbury et al, 2013) portrayed by developmental delays, impaired functioning in social and communicative skills and the presence of restricted, repetitive behavior (Volkmar et al, 2004) and there is neither any specific cause nor cure known for this condition because of heterogenic as well as complex nature of it (Harris, 2016)
Our allelic frequency calculations showed that while the rs53576A allele acting as minor (A=0.410) in the control but major in the ASD (A=0.660, Table 3) which was dissimilar from the calculated frequency of Bengali of Bangladesh (BEB) population
Consistent with the hypothesis that genetic variation at oxytocin receptor (OXTR) is possibly associated with differential susceptibility, carriers of the AG or AA genotype of the rs2254298 Single Nucleotide Polymorphisms (SNPs) are more vulnerable to developing a psychiatric condition, including autism (Brüne, 2012; Jacob et al, 2007) depression and anxiety disorders (Chen and Johnson, 2012; Thompson et al, 2011; Costa et al, 2009; Lucht et al, 2009)

Summary

Introduction

Autism spectrum disorder (ASD) is a combination of neurodevelopmental disorders (Norbury et al, 2013) portrayed by developmental delays, impaired functioning in social and communicative skills and the presence of restricted, repetitive behavior (Volkmar et al, 2004) and there is neither any specific cause nor cure known for this condition because of heterogenic as well as complex nature of it (Harris, 2016). The establishment of social relationships and social communication is a fundamental developmental task of infancy. On 26th April 2018, the Central for Disease Control’s (CDC) Autism and Developmental Disabilities Monitoring (ADDM) network updated the prevalence rate of ASD in United States as 1 in 59 children (1.7%) which is higher than the previous estimate of 1.5% or 1 in 68 children released in 2016 (CDC, 2018).

Results

Discussion

Conclusion