Les polymorphismes nucléotidiques simples dans SLC19A1 et SLC25A9 sont associés à un trouble du spectre de l'autisme chez l'enfant dans la population Han chinoise.

Aperçu: G.M.

Des variantes génétiques ont été impliquées dans le développement du trouble du spectre  de l'autisme (TSA).

Des études récentes suggèrent que les transporteurs de soluté (SLC) peuvent jouer un rôle dans l'étiologie des TSA. Le but de cette étude était de déterminer l'association entre les polymorphismes à un seul nucléotide (SNP) dans les gènes SLC19A1 et SLC25A12 avec des enfants TSA dans une population Han chinoise.

L'étude suggère que des variantes génétiques de SLC19A1 et SLC25A12 peuvent être associées à des risques pour le TSA dans l'enfance.

J Mol Neurosci. 2017 May 24. doi: 10.1007/s12031-017-0929-6. 

Single Nucleotide Polymorphisms in SLC19A1 and SLC25A9 Are Associated with Childhood Autism Spectrum Disorder in the Chinese Han Population

Liu J¹, Mo W², Zhang Z³, Yu H⁴, Yang A², Qu F², Hu P², Liu Z⁵, Wang S⁶.

Author information

1

Department of Clinical Laboratory, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, 311202, China. 18967167212@163.com

2

Department of Clinical Laboratory, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, 311202, China.

3

Department of Pediatrics, Xiaoshan First Affiliated Hospital of HangzhouNormal University, Hangzhou, Zhejiang, 311201, China.

4

Department of Child and Adolescent Mental Health, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, 311202, China.

5

Department of Internal Medicine, Zhejiang Xiaoshan Hospital, Hangzhou, Zhejiang, 311202, China.

6

Department of Cancer Biology, Wake Forest School of Medicine, Winston Salem, NC, 27157, USA.

Abstract

Genetic variants have been implicated in the development of autism spectrum disorder (ASD). Recent studies suggest that solute carriers (SLCs) may play a role in the etiology of ASD. This purpose of this study was to determine the association between single nucleotide polymorphisms (SNPs) in SLC19A1 and SLC25A12 genes with childhood ASD in a Chinese Han population. A total of 201 autistic children and 200 age- and gender-matched healthy controls were recruited. A TaqMan probe-based real-time PCR approach was used to determine genotypes of SNPs corresponding to rs1023159 and rs1051266 in SLC19A1, and rs2056202 and rs2292813 in SLC25A12. Our results showed that both the T/T genotype of rs1051266 (odds ratio (OR) = 1.85, 95% confidence interval (CI) = 1.06-3.23, P = 0.0301) and the T allele (OR = 1.77, 95% CI = 1.07-2.90, P = 0.0249) of rs2292813 were significantly associated with an increased risk of childhood ASD. In addition, the G-C haplotype of rs1023159-rs1051266 in SCL19A1 (OR = 0.71, 95% CI = 0.51-0.98, P = 0.0389) and C-C haplotype of rs2056202-rs2292813 in SLC25A12 (OR = 0.58, 95% CI = 0.35-0.96, P = 0.0325) were associated with decreased risks of childhood ASD. There was no significant association between genotypes and allele frequencies with the severity of the disease. Our study suggests that these genetic variants of SLC19A1 and SLC25A12 may be associated with risks for childhood ASD.

PMID:28536923

DOI:10.1007/s12031-017-0929-6