[article]
Titre : |
Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders |
Type de document : |
Texte imprimé et/ou numérique |
Auteurs : |
Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur |
Article en page(s) : |
p.382-396 |
Langues : |
Anglais (eng) |
Mots-clés : |
autism genome-wide association study neuropsychiatric disorders transmission disequilibrium test |
Index. décimale : |
PER Périodiques |
Résumé : |
Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. |
En ligne : |
http://dx.doi.org/10.1002/aur.2229 |
Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 |
in Autism Research > 13-3 (March 2020) . - p.382-396
[article] Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders [Texte imprimé et/ou numérique] / Lu XIA, Auteur ; Jianjun OU, Auteur ; Kuokuo LI, Auteur ; Hui GUO, Auteur ; Zhengmao HU, Auteur ; Ting BAI, Auteur ; Jingping ZHAO, Auteur ; Kun XIA, Auteur ; Fengyu ZHANG, Auteur . - p.382-396. Langues : Anglais ( eng) in Autism Research > 13-3 (March 2020) . - p.382-396
Mots-clés : |
autism genome-wide association study neuropsychiatric disorders transmission disequilibrium test |
Index. décimale : |
PER Périodiques |
Résumé : |
Autism is a common neurodevelopmental disorder with a moderate to a high degree of heritability, but only a few common genetic variants that explain the heritability have been associated. We performed a genome-wide transmission disequilibrium test analysis of a newly genotyped autism case-parent triad samples (127 trios) in Han Chinese, identified top association signals at multiple single nucleotide polymorphisms (SNPs), including rs9839376 (OR = 2.59, P = 1.27 x 10(-05) ) at KCNMB2, rs6044680 (OR = 0.319, P = 4.82 x 10(-05) ) and rs7274133 (OR = 0.313, P = 3.22 x 10(-05) ) at PCSK2, and rs310619 (OR = 2.40, P = 7.44 x 10(-05) ) at EEF1A2. Furthermore, a genome-wide combined P-value of individual SNPs in two independent case-parent triad samples (total 402 triads, n = 1,206) identified SNPs at EGFLAM, ZDHHC2, AGBL1, and SNX29 as additional association signals for autism. While none of these signals achieved a genome-wide significance in the two samples of our study, they have been reported in a previous genome-wide association study of neuropsychiatric disorders, and the majority of these SNP have a significant cis-regulatory association with mRNA in human tissues (false discovery rate (FDR) < 0.05). Our study warrants further study or replication with additional sample for association with autism and other neuropsychiatric disorders. Autism Res 2020, 13: 382-396. (c) 2019 International Society for Autism Research, Wiley Periodicals, Inc. LAY SUMMARY: Autism is a common neurodevelopmental disorder, heritable, but only a few common genetic variants that explain the heritability have been associated. We conducted a genome-wide association study with two cohorts of autism case-parent triad samples in Han Chinese and identified multiple single nucleotide polymorphisms that were reported as strong association signals in a previous genome-wide association study of other neuropsychiatric disorders or related traits. Our study provides evidence for shared genetic variants among autism and other neuropsychiatric disorders. |
En ligne : |
http://dx.doi.org/10.1002/aur.2229 |
Permalink : |
https://www.cra-rhone-alpes.org/cid/opac_css/index.php?lvl=notice_display&id=421 |
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