[article]
| Titre : |
Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population |
| Type de document : |
Texte imprimé et/ou numérique |
| Auteurs : |
Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur |
| Article en page(s) : |
p.67-72 |
| Langues : |
Anglais (eng) |
| Mots-clés : |
Polymorphism Autism spectrum disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? |
| En ligne : |
https://doi.org/10.1016/j.rasd.2018.06.005 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 |
in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72
[article] Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population [Texte imprimé et/ou numérique] / Fang HOU, Auteur ; Li LI, Auteur ; Jianhua GONG, Auteur ; Yanlin CHEN, Auteur ; Jia WANG, Auteur ; Lingfei LIU, Auteur ; Xiu LUO, Auteur ; HuaiTing GU, Auteur ; Jiajia ZHANG, Auteur ; Ranran SONG, Auteur . - p.67-72. Langues : Anglais ( eng) in Research in Autism Spectrum Disorders > 53 (September 2018) . - p.67-72
| Mots-clés : |
Polymorphism Autism spectrum disorder |
| Index. décimale : |
PER Périodiques |
| Résumé : |
Background Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder with a strong genetic basis. Recently, synaptic abnormality has been proved to have a strong association with the etiology of ASD. PSD95 and DLGAP2 are the members of postsynaptic scaffolding proteins that play crucial roles in synaptic plasticity and function. This study evaluated the association of the genetic variants in PSD95 and DLGAP2 with ASD. Methods We performed a case-control study in a Chinese population with samples of 529 cases and 1923 controls. We extracted genomic DNA from oral swabs and determined the SNP genotypes by using a PCR-RFLP assay. Results We sequenced five SNPs (rs7005715, rs2301963 and rs2906569 in DLGAP2; rs2521985 and rs2017365 in PSD95). Genetic analysis suggested the GA genotype and GG genotype of rs7005715 were significantly associated with increased risk of ASD (respectively: OR?=?1.357, 95%CI?=?1.103–1.669, P?=?0.016; OR?=?1.860, 95%CI?=?1.359–2.551, P? |
| En ligne : |
https://doi.org/10.1016/j.rasd.2018.06.005 |
| Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=368 |
|
Association analysis of two synapse-related gene mutations with autism spectrum disorder in a Chinese population in Research in Autism Spectrum Disorders, 53 (September 2018)
