Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients
Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals....
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2013-01-01
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| Series: | The Scientific World Journal |
| Online Access: | http://dx.doi.org/10.1155/2013/670621 |
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| author | Ahmed M. Salem Samira Ismail Waheba A. Zarouk Olwya Abdul Baky Ahmed A. Sayed Sawsan Abd El-Hamid Sohair Salem |
| author_facet | Ahmed M. Salem Samira Ismail Waheba A. Zarouk Olwya Abdul Baky Ahmed A. Sayed Sawsan Abd El-Hamid Sohair Salem |
| author_sort | Ahmed M. Salem |
| collection | DOAJ |
| description | Autism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls (P<0.001 for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration. |
| format | Article |
| id | doaj-art-ecfe2f7e848b484db77dd6d6c731b5c2 |
| institution | Kabale University |
| issn | 1537-744X |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | The Scientific World Journal |
| spelling | doaj-art-ecfe2f7e848b484db77dd6d6c731b5c22025-02-03T06:11:47ZengWileyThe Scientific World Journal1537-744X2013-01-01201310.1155/2013/670621670621Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic PatientsAhmed M. Salem0Samira Ismail1Waheba A. Zarouk2Olwya Abdul Baky3Ahmed A. Sayed4Sawsan Abd El-Hamid5Sohair Salem6Department of Biochemistry, Ain Shams University, Cairo, EgyptDepartment of Clinical Genetics, National Research Centre, Giza, EgyptDepartment of Molecular Genetics, National Research Centre, Giza, EgyptDepartment of Child Psychiatry, Ain Shams University, Cairo, EgyptDepartment of Biochemistry, Ain Shams University, Cairo, EgyptDepartment of Molecular Genetics, National Research Centre, Giza, EgyptDepartment of Molecular Genetics, National Research Centre, Giza, EgyptAutism is a neurodevelopmental disorder with indisputable evidence for a genetic component. This work studied the association of autism with genetic variations in neurotransmitter-related genes, including MAOA uVNTR, MAOB rs1799836, and DRD2 TaqI A in 53 autistic patients and 30 healthy individuals. The study also analyzed sequence variations of miR-431 and miR-21. MAOA uVNTR was genotyped by PCR, MAOB and DRD2 polymorphisms were analyzed by PCR-based RFLP, and miR-431 and miR-21 were sequenced. Low expressing allele of MAOA uVNTR was frequently higher in female patients compared to that in controls (OR = 2.25). MAOB G allele frequency was more significantly increased in autistic patients than in controls (P<0.001 for both males and females). DRD2 A1+ genotype increased autism risk (OR = 5.1). Severity of autism tends to be slightly affected by MAOA/B genotype. Plasma MAOB activity was significantly reduced in G than in A allele carrying males. There was no significant difference in patients and maternal plasma MAOA/B activity compared to controls. Neither mutations nor SNPs in miR-431 and miR-21 were found among studied patients. This study threw light on some neurotransmitter-related genes suggesting their potential role in Autism pathogenesis that warrants further studies and much consideration.http://dx.doi.org/10.1155/2013/670621 |
| spellingShingle | Ahmed M. Salem Samira Ismail Waheba A. Zarouk Olwya Abdul Baky Ahmed A. Sayed Sawsan Abd El-Hamid Sohair Salem Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients The Scientific World Journal |
| title | Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients |
| title_full | Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients |
| title_fullStr | Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients |
| title_full_unstemmed | Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients |
| title_short | Genetic Variants of Neurotransmitter-Related Genes and miRNAs in Egyptian Autistic Patients |
| title_sort | genetic variants of neurotransmitter related genes and mirnas in egyptian autistic patients |
| url | http://dx.doi.org/10.1155/2013/670621 |
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