ArticleThe American journal of psychiatry2012
Genome-wide association study of multiplex schizophrenia pedigrees.
Article in The American journal of psychiatry, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 64 citations in OpenAlex.
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- Tissue-wide cell-specific proteogenomic modeling reveals novel candidate risk genes in autism spectrum disorders.NPJ systems biology and applications · 2022Article
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- A computational method for direct imputation of cell type-specific expression profiles and cellular compositions from bulk-tissue RNA-Seq in brain disorders.NAR genomics and bioinformatics · 2021Article
- Neurexins in autism and schizophrenia-a review of patient mutations, mouse models and potential future directions.Molecular psychiatry · 2021Review
- Genetic Intersections of Language and Neuropsychiatric Conditions.Current psychiatry reports · 2020Review
- Cell Type-Specific Annotation and Fine Mapping of Variants Associated With Brain Disorders.Frontiers in genetics · 2020Article
- Enhancing Psychosis-Spectrum Nosology Through an International Data Sharing Initiative.Schizophrenia bulletin · 2018Article
- A replication study of schizophrenia-related rare copy number variations in a Han Southern Chinese population.Hereditas · 2017Article
- Pro-inflammatory cytokines and their epistatic interactions in genetic susceptibility to schizophrenia.Journal of neuroinflammation · 2016Article
- Clinical phenotype of the recurrent 1q21.1 copy-number variant.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- Synaptic abnormalities and cytoplasmic glutamate receptor aggregates in contactin associated protein-like 2/Caspr2 knockout neurons.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- A rare functional noncoding variant at the GWAS-implicated MIR137/MIR2682 locus might confer risk to schizophrenia and bipolar disorder.American journal of human genetics · 2014Article
- Bernard Lerer: recipient of the 2014 inaugural Werner Kalow Responsible Innovation Prize in Global Omics and Personalized Medicine (Pacific Rim Association for Clinical Pharmacogenetics).Omics : a journal of integrative biology · 2014Article
- Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion.Molecular psychiatry · 2014Article
- Evolutionary conservation in genes underlying human psychiatric disorders.Frontiers in human neuroscience · 2014Article
- A scoring strategy combining statistics and functional genomics supports a possible role for common polygenic variation in autism.Frontiers in genetics · 2014Article
Corrections and comments
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Authors and funding
47 authors at 1 institution in 1 country.
Funding
Abstract
objectiveThe authors used a genome-wide association study (GWAS) of multiply affected families to investigate the association of schizophrenia to common single-nucleotide polymorphisms (SNPs) and rare copy number variants (CNVs).
methodThe family sample included 2,461 individuals from 631 pedigrees (581 in the primary European-ancestry analyses). Association was tested for single SNPs and genetic pathways. Polygenic scores based on family study results were used to predict case-control status in the Schizophrenia Psychiatric GWAS Consortium (PGC) data set, and consistency of direction of effect with the family study was determined for top SNPs in the PGC GWAS analysis. Within-family segregation was examined for schizophrenia-associated rare CNVs.
resultsNo genome-wide significant associations were observed for single SNPs or for pathways. PGC case and control subjects had significantly different genome-wide polygenic scores (computed by weighting their genotypes by log-odds ratios from the family study) (best p=10(-17), explaining 0.4% of the variance). Family study and PGC analyses had consistent directions for 37 of the 58 independent best PGC SNPs (p=0.024). The overall frequency of CNVs in regions with reported associations with schizophrenia (chromosomes 1q21.1, 15q13.3, 16p11.2, and 22q11.2 and the neurexin-1 gene [NRXN1]) was similar to previous case-control studies. NRXN1 deletions and 16p11.2 duplications (both of which were transmitted from parents) and 22q11.2 deletions (de novo in four cases) did not segregate with schizophrenia in families.
conclusionsMany common SNPs are likely to contribute to schizophrenia risk, with substantial overlap in genetic risk factors between multiply affected families and cases in large case-control studies. Our findings are consistent with a role for specific CNVs in disease pathogenesis, but the partial segregation of some CNVs with schizophrenia suggests that researchers should exercise caution in using them for predictive genetic testing until their effects in diverse populations have been fully studied.
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