Dyslexia associated functional variants in Europeans are not associated with dyslexia in Chinese

Genome‐wide association studies (GWAS) of developmental dyslexia (DD) often used European samples and identified only a handful associations with moderate or weak effects. This study aims to identify DD functional variants by integrating the GWAS associations with tissue‐specific functional data and...

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Bibliographic Details
Published in:American journal of medical genetics. Part B, Neuropsychiatric genetics Neuropsychiatric genetics, 2019-10, Vol.180 (7), p.488-495
Main Authors: Liu, Lingfei, Gu, Huaiting, Hou, Fang, Xie, Xinyan, Li, Xin, Zhu, Bing, Zhang, Jiajia, Wei, Wen‐Hua, Song, Ranran
Format: Article
Language:English
Subjects:
Cell lines
Chromatin
DNAH9
Dyslexia
eQTL
Etiology
Genetics
Genome-wide association studies
Genomes
GWAS
Hippocampus
integrative analysis
Mental disorders
Neurodevelopmental disorders
Quantitative trait loci
Schizophrenia
SLC2A3
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Summary:Genome‐wide association studies (GWAS) of developmental dyslexia (DD) often used European samples and identified only a handful associations with moderate or weak effects. This study aims to identify DD functional variants by integrating the GWAS associations with tissue‐specific functional data and test the variants in a Chinese DD study cohort named READ. We colocalized associations from nine DD related GWAS with expression quantitative trait loci (eQTL) derived from brain tissues and identified two eSNPs rs349045 and rs201605. Both eSNPs had supportive evidence of chromatin interactions observed in human hippocampus tissues and their respective target genes ZNF45 and DNAH9 both had lower expression in brain tissues in schizophrenia patients than controls. In contrast, an eSNP rs4234898 previously identified based on eQTL from the lymphoblastic cell lines of dyslexic children had no chromatin interaction with its target gene SLC2A3 in hippocampus tissues and SLC2A3 expressed higher in the schizophrenia patients than controls. We genotyped the three eSNPs in the READ cohort of 372 cases and 354 controls and discovered only weak associations in rs201605 and rs4234898 with three DD symptoms (p 
ISSN:1552-4841
1552-485X
DOI:10.1002/ajmg.b.32750