A Study of Single Nucleotide Polymorphisms of the SLC19A1/RFC1 Gene in Subjects with Autism Spectrum Disorder

被引:7
作者
Al Mahmuda, Naila [1 ]
Yokoyama, Shigeru [1 ]
Huang, Jian-Jun [1 ]
Liu, Li [1 ]
Munesue, Toshio [1 ]
Nakatani, Hideo [2 ]
Hayashi, Kenshi [3 ]
Yagi, Kunimasa [4 ]
Yamagishi, Masakazu [3 ]
Higashida, Haruhiro [1 ]
机构
[1] Kanazawa Univ, Res Ctr Child Mental Dev, Kanazawa, Ishikawa 9208640, Japan
[2] Kanazawa Univ, Grad Sch Med Sci, Div Neurosci, Kanazawa, Ishikawa 9208640, Japan
[3] Kanazawa Univ, Div Cardiovasc Med, Grad Sch Med Sci, Kanazawa, Ishikawa 9208640, Japan
[4] Kanazawa Univ, Med Educ Res Ctr, Grad Sch Med Sci, Kanazawa, Ishikawa 9208640, Japan
关键词
autism spectrum disorder; reduced folate carrier; single nucleotide polymorphism; REDUCED FOLATE CARRIER; DIAGNOSTIC INTERVIEW; RECEPTOR AUTOIMMUNITY; FUNCTIONING AUTISM; DEFICIENCY; CHILDREN; CANCER; ORGANIZATION; ASSOCIATION; POPULATION;
D O I
10.3390/ijms17050772
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
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.
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页数:9
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