Vitamin D Receptor Gene Polymorphisms Associated with Childhood Autism
نویسندگان
چکیده
BACKGROUND Autism spectrum disorder (ASD) is a group of heterogeneous, behaviorally defined disorders whereby currently no biological markers are common to all affected individuals. A deregulated immune response may be contributing to the etiology of ASD. The active metabolite of vitamin D₃ has an immunoregulatory role mediated by binding to the vitamin D receptor (VDR) in monocyte, macrophages, and lymphocytes. The effects of vitamin D and interaction with the VDR may be influenced by polymorphism in the VDR gene. METHODS Genetic association of four different VDR polymorphisms (Apa-I, Bsm-I, Taq-I, Fok-I) associated with susceptibility to the development of autism in children was investigated. RESULTS We uniquely found an association between the presence of the T allele at position Taq-I and presence of the a allele at position Apa-I of the VDR gene with decreased ASD incidence. There was also an association between female gender and the presence of the T allele. We found no statistical significant correlation between VDR single nucleotide polymorphisms (SNPs) and vitamin D₃ concentration in serum of ASD children. CONCLUSION Genetic polymorphism in two SNP in VDR may be correlated with development of ASD symptoms by influencing functionality of vitamin D₃ metabolism, while vitamin D₃ levels were not significantly different between ASD and non-ASD children.
منابع مشابه
The Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis – a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis– a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis – a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملThe Vitamin D Receptor (VDR) Gene Polymorphisms Fok1 In Obese Pakistanis– a Preliminary Report
Objective: The role of vitamin D has soared to a pinnacle in recent years with functions affecting 229 human genes linked to cardiovascular, autoimmune, humoral, pulmonary and neurological diseases. Relationship between obesity and vitamin D has not as yet been fully established. The objective of the study was to determine the possible relationship between Vitamin D receptor (VDR) gene polymorp...
متن کاملPolymorphisms within Exon 9, But Not Intron 8, of the Vitamin D Receptor Gene Are Associated with Asthma
Objective(s) Deregulation of the immune system through allied factors and cytokine responses are thought to be important contributors to the pathogenesis of asthma. Vitamin D3 and its nuclear receptor appear to be factors that maybe involved in regulating immune responses during the progression of asthma. The aim of this study was to investigate the association between polymorphisms in intron ...
متن کامل