Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism
Introduction Autism is an etiologically and clinically heterogeneous group of disorders, collectively referred to as 'autism spectrum disorders'. Dopamine (DA) modulates a wide variety of processes, functions, and behaviors that are abnormal in individuals with autism spectrum disorders. T...
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| Format: | Article |
| Language: | English |
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General Organization of Teaching Hospitals and Institutes
2018-01-01
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| Series: | Journal of Medicine in Scientific Research |
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| Online Access: | http://www.jmsr.eg.net/article.asp?issn=2537-091X;year=2018;volume=1;issue=1;spage=59;epage=65;aulast=Aziz |
| _version_ | 1797228726912548864 |
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| author | Azza Abdel Aziz Azzam Dina Mohammad Rasheed Bahgat Rasha Mohamad Hosny Shahin Ranaih Massoud Azme Nasralla |
| author_facet | Azza Abdel Aziz Azzam Dina Mohammad Rasheed Bahgat Rasha Mohamad Hosny Shahin Ranaih Massoud Azme Nasralla |
| author_sort | Azza Abdel Aziz Azzam |
| collection | DOAJ |
| description | Introduction
Autism is an etiologically and clinically heterogeneous group of disorders, collectively referred to as 'autism spectrum disorders'. Dopamine (DA) modulates a wide variety of processes, functions, and behaviors that are abnormal in individuals with autism spectrum disorders. The DA transporter gene SLC6A3 (solute carrier family 6, member 3) is a crucial regulator of DA homeostasis and neurotransmission. SLC6A3 gene has many polymorphisms which are associated with hangs in gene expression that may affect extracellular DA levels. The rs2550936 single-nucleotide polymorphism (SNP) at SLC6A3 gene decreased SLC6A3 expression or DA transporter availability. Also, the rs4532 SNP at dopamine D1 receptors (DRD1) is apparently a good candidate for affecting autism risk or modifying the classical symptoms of autism.
Aim
This study aimed to analyze the association between rs2550936 SNP at SLC6A3 gene and rs4532 SNP at the DRD1 gene and autism and their association with various demographical and clinical data of autistic children.
Patients and methods
This study included 50 autistic patients (36 males and 14 females) and 50 age-matched and sex-matched nonautistic controls for comparison. All patients were subjected to history taking, physical examination, language assessment, intelligence quotient, and childhood autism rating scale as well as analysis of SLC6A3 gene rs2550936 SNP and DRD1 gene rs4532 SNP using PCR–restriction fragment length polymorphism (RFLP), which was done for both patients and nonautistic controls.
Results
There has been a statistically significant relationship between the age of mother and different genotypes of SLC6A3 gene in autistic patients (P = 0.030). DRD1 rs4532 A/G and A/A genotype frequencies were significantly higher in autistic patients (52%) compared with nonautistic controls (40%) (P = 0.043).
Conclusion
DRD1 rs4532 polymorphism might be a risk factor increasing autism susceptibility as well as the association of the patient age with its different genotypes. There was a significant difference in the mother's age at conception and different genotypes of the SLC6A3 gene in autistic patients. |
| first_indexed | 2024-04-24T15:01:17Z |
| format | Article |
| id | doaj.art-bea28546c46641e195e5d60e2a5fcc3f |
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| issn | 2537-091X 2537-0928 |
| language | English |
| last_indexed | 2024-04-24T15:01:17Z |
| publishDate | 2018-01-01 |
| publisher | General Organization of Teaching Hospitals and Institutes |
| record_format | Article |
| series | Journal of Medicine in Scientific Research |
| spelling | doaj.art-bea28546c46641e195e5d60e2a5fcc3f2024-04-02T15:29:16ZengGeneral Organization of Teaching Hospitals and InstitutesJournal of Medicine in Scientific Research2537-091X2537-09282018-01-0111596510.4103/JMISR.JMISR_8_18Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autismAzza Abdel Aziz AzzamDina Mohammad Rasheed BahgatRasha Mohamad Hosny ShahinRanaih Massoud Azme NasrallaIntroduction Autism is an etiologically and clinically heterogeneous group of disorders, collectively referred to as 'autism spectrum disorders'. Dopamine (DA) modulates a wide variety of processes, functions, and behaviors that are abnormal in individuals with autism spectrum disorders. The DA transporter gene SLC6A3 (solute carrier family 6, member 3) is a crucial regulator of DA homeostasis and neurotransmission. SLC6A3 gene has many polymorphisms which are associated with hangs in gene expression that may affect extracellular DA levels. The rs2550936 single-nucleotide polymorphism (SNP) at SLC6A3 gene decreased SLC6A3 expression or DA transporter availability. Also, the rs4532 SNP at dopamine D1 receptors (DRD1) is apparently a good candidate for affecting autism risk or modifying the classical symptoms of autism. Aim This study aimed to analyze the association between rs2550936 SNP at SLC6A3 gene and rs4532 SNP at the DRD1 gene and autism and their association with various demographical and clinical data of autistic children. Patients and methods This study included 50 autistic patients (36 males and 14 females) and 50 age-matched and sex-matched nonautistic controls for comparison. All patients were subjected to history taking, physical examination, language assessment, intelligence quotient, and childhood autism rating scale as well as analysis of SLC6A3 gene rs2550936 SNP and DRD1 gene rs4532 SNP using PCR–restriction fragment length polymorphism (RFLP), which was done for both patients and nonautistic controls. Results There has been a statistically significant relationship between the age of mother and different genotypes of SLC6A3 gene in autistic patients (P = 0.030). DRD1 rs4532 A/G and A/A genotype frequencies were significantly higher in autistic patients (52%) compared with nonautistic controls (40%) (P = 0.043). Conclusion DRD1 rs4532 polymorphism might be a risk factor increasing autism susceptibility as well as the association of the patient age with its different genotypes. There was a significant difference in the mother's age at conception and different genotypes of the SLC6A3 gene in autistic patients.http://www.jmsr.eg.net/article.asp?issn=2537-091X;year=2018;volume=1;issue=1;spage=59;epage=65;aulast=Azizautismgene polymorphismpcr-rflpslc6a3 gene |
| spellingShingle | Azza Abdel Aziz Azzam Dina Mohammad Rasheed Bahgat Rasha Mohamad Hosny Shahin Ranaih Massoud Azme Nasralla Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism Journal of Medicine in Scientific Research autism gene polymorphism pcr-rflp slc6a3 gene |
| title | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism |
| title_full | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism |
| title_fullStr | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism |
| title_full_unstemmed | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism |
| title_short | Association study between polymorphisms of dopamine transporter gene (SLC6A3), dopamine D1 receptor gene (DRD1), and autism |
| title_sort | association study between polymorphisms of dopamine transporter gene slc6a3 dopamine d1 receptor gene drd1 and autism |
| topic | autism gene polymorphism pcr-rflp slc6a3 gene |
| url | http://www.jmsr.eg.net/article.asp?issn=2537-091X;year=2018;volume=1;issue=1;spage=59;epage=65;aulast=Aziz |
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