A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder
Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with complex genetic etiology. Recent studies have indicated that children with ASD may have altered folate or methionine metabolism, suggesting that the folate–methionine cycle may play a key role in the etiology of ASD. SLC1...
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doaj-212d34305f7c43aca617be11716c14442020-11-24T21:53:28ZengMDPI AGInternational Journal of Molecular Sciences1422-00672016-05-0117577210.3390/ijms17050772ijms17050772A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum DisorderNaila Al Mahmuda0Shigeru Yokoyama1Jian-Jun Huang2Li Liu3Toshio Munesue4Hideo Nakatani5Kenshi Hayashi6Kunimasa Yagi7Masakazu Yamagishi8Haruhiro Higashida9Research Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanResearch Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanResearch Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanResearch Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanResearch Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanDivision of Neuroscience, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8640, JapanDivision of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8640, JapanMedical Education Research Center, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8640, JapanDivision of Cardiovascular Medicine, Kanazawa University Graduate School of Medical Science, Kanazawa 920-8640, JapanResearch Center for Child Mental Development, Kanazawa University, Kanazawa 920-8640, JapanAutism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with complex genetic etiology. Recent studies have indicated that children with ASD may have altered folate or methionine metabolism, suggesting that the folate–methionine cycle may play a key role in the etiology of ASD. SLC19A1, also referred to as reduced folate carrier 1 (RFC1), is a member of the solute carrier group of transporters and is one of the key enzymes in the folate metabolism pathway. Findings from multiple genomic screens suggest the presence of an autism susceptibility locus on chromosome 21q22.3, which includes SLC19A1. Therefore, we performed a case-control study in a Japanese population. In this study, DNA samples obtained from 147 ASD patients at the Kanazawa University Hospital in Japan and 150 unrelated healthy Japanese volunteers were examined by the sequence-specific primer-polymerase chain reaction method pooled with fluorescence correlation spectroscopy. p < 0.05 was considered to represent a statistically significant outcome. Of 13 single nucleotide polymorphisms (SNPs) examined, a significant p-value was obtained for AA genotype of one SNP (rs1023159, OR = 0.39, 95% CI = 0.16–0.91, p = 0.0394; Fisher’s exact test). Despite some conflicting results, our findings supported a role for the polymorphism rs1023159 of the SLC19A1 gene, alone or in combination, as a risk factor for ASD. However, the findings were not consistent after multiple testing corrections. In conclusion, although our results supported a role of the SLC19A1 gene in the etiology of ASD, it was not a significant risk factor for the ASD samples analyzed in this study.http://www.mdpi.com/1422-0067/17/5/772autism spectrum disorderreduced folate carriersingle nucleotide polymorphism |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Naila Al Mahmuda Shigeru Yokoyama Jian-Jun Huang Li Liu Toshio Munesue Hideo Nakatani Kenshi Hayashi Kunimasa Yagi Masakazu Yamagishi Haruhiro Higashida |
spellingShingle |
Naila Al Mahmuda Shigeru Yokoyama Jian-Jun Huang Li Liu Toshio Munesue Hideo Nakatani Kenshi Hayashi Kunimasa Yagi Masakazu Yamagishi Haruhiro Higashida A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder International Journal of Molecular Sciences autism spectrum disorder reduced folate carrier single nucleotide polymorphism |
author_facet |
Naila Al Mahmuda Shigeru Yokoyama Jian-Jun Huang Li Liu Toshio Munesue Hideo Nakatani Kenshi Hayashi Kunimasa Yagi Masakazu Yamagishi Haruhiro Higashida |
author_sort |
Naila Al Mahmuda |
title |
A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder |
title_short |
A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder |
title_full |
A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder |
title_fullStr |
A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder |
title_full_unstemmed |
A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder |
title_sort |
study of single nucleotide polymorphisms of the slc19a1/rfc1 gene in subjects with autism spectrum disorder |
publisher |
MDPI AG |
series |
International Journal of Molecular Sciences |
issn |
1422-0067 |
publishDate |
2016-05-01 |
description |
Autism Spectrum Disorder (ASD) is a group of neurodevelopmental disorders with complex genetic etiology. Recent studies have indicated that children with ASD may have altered folate or methionine metabolism, suggesting that the folate–methionine cycle may play a key role in the etiology of ASD. SLC19A1, also referred to as reduced folate carrier 1 (RFC1), is a member of the solute carrier group of transporters and is one of the key enzymes in the folate metabolism pathway. Findings from multiple genomic screens suggest the presence of an autism susceptibility locus on chromosome 21q22.3, which includes SLC19A1. Therefore, we performed a case-control study in a Japanese population. In this study, DNA samples obtained from 147 ASD patients at the Kanazawa University Hospital in Japan and 150 unrelated healthy Japanese volunteers were examined by the sequence-specific primer-polymerase chain reaction method pooled with fluorescence correlation spectroscopy. p < 0.05 was considered to represent a statistically significant outcome. Of 13 single nucleotide polymorphisms (SNPs) examined, a significant p-value was obtained for AA genotype of one SNP (rs1023159, OR = 0.39, 95% CI = 0.16–0.91, p = 0.0394; Fisher’s exact test). Despite some conflicting results, our findings supported a role for the polymorphism rs1023159 of the SLC19A1 gene, alone or in combination, as a risk factor for ASD. However, the findings were not consistent after multiple testing corrections. In conclusion, although our results supported a role of the SLC19A1 gene in the etiology of ASD, it was not a significant risk factor for the ASD samples analyzed in this study. |
topic |
autism spectrum disorder reduced folate carrier single nucleotide polymorphism |
url |
http://www.mdpi.com/1422-0067/17/5/772 |
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