ArticlePloS one2009
Genomic landscape of a three-generation pedigree segregating affective disorder.
Article in PloS one, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed, 44 citations in OpenAlex.
- Divergent epigenetic responses to perinatal asphyxia in severe mental disorders.Translational psychiatry · 2024Article
- Contribution of Rare Copy Number Variants to Bipolar Disorder Risk Is Limited to Schizoaffective Cases.Biological psychiatry · 2019Article
- Transcript Analysis of Zebrafish GLUT3 Genes,Frontiers in molecular neuroscience · 2019Article
- Runs of homozygosity, copy number variation, and risk for depression and suicidal behavior in an Arab Bedouin kindred.Psychiatric genetics · 2017Article
- Copy number variants encompassing Mendelian disease genes in a large multigenerational family segregating bipolar disorder.BMC genetics · 2015Article
- Genomic structural variation in affective, anxiety, and stress-related disorders.Journal of neural transmission (Vienna, Austria : 1996) · 2015Review
- A population-based study of KCNH7 p.Arg394His and bipolar spectrum disorder.Human molecular genetics · 2014Article
- Identifying Potential Regions of Copy Number Variation for Bipolar Disorder.Microarrays (Basel, Switzerland) · 2014Article
- Afadin is required for maintenance of dendritic structure and excitatory tone.The Journal of biological chemistry · 2012Article
- Inheritance model introduces differential bias in CNV calls between parents and offspring.Genetic epidemiology · 2012Article
- Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease.CNS & neurological disorders drug targets · 2012Review
- Genome-wide survey implicates the influence of copy number variants (CNVs) in the development of early-onset bipolar disorder.Molecular psychiatry · 2012Article
- Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.Genome medicine · 2012Review
- Understanding the impact of 1q21.1 copy number variant.Orphanet journal of rare diseases · 2011Article
- Copy number variation across European populations.PloS one · 2011Article
- Observations on Copy Number Variations in a Kidney-yang Deficiency Syndrome Family.Evidence-based complementary and alternative medicine : eCAM · 2011Article
- Uncovering the roles of rare variants in common disease through whole-genome sequencing.Nature reviews. Genetics · 2010Review
- Identification of copy number variations and common deletion polymorphisms in cattle.BMC genomics · 2010Article
- New findings in the genetics of major psychoses.Dialogues in clinical neuroscience · 2010Review
- JANE: efficient mapping of prokaryotic ESTs and variable length sequence reads on related template genomes.BMC bioinformatics · 2009Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
Bipolar disorder (BPD) is a common psychiatric illness with a complex mode of inheritance. Besides traditional linkage and association studies, which require large sample sizes, analysis of common and rare chromosomal copy number variants (CNVs) in extended families may provide novel insights into the genetic susceptibility of complex disorders. Using the Illumina HumanHap550 BeadChip with over 550,000 SNP markers, we genotyped 46 individuals in a three-generation Old Order Amish pedigree with 19 affected (16 BPD and three major depression) and 27 unaffected subjects. Using the PennCNV algorithm, we identified 50 CNV regions that ranged in size from 12 to 885 kb and encompassed at least 10 single nucleotide polymorphisms (SNPs). Of 19 well characterized CNV regions that were available for combined genotype-expression analysis 11 (58%) were associated with expression changes of genes within, partially within or near these CNV regions in fibroblasts or lymphoblastoid cell lines at a nominal P value <0.05. To further investigate the mode of inheritance of CNVs in the large pedigree, we analyzed a set of four CNVs, located at 6q27, 9q21.11, 12p13.31 and 15q11, all of which were enriched in subjects with affective disorders. We additionally show that these variants affect the expression of neuronal genes within or near the rearrangement. Our analysis suggests that family based studies of the combined effect of common and rare CNVs at many loci may represent a useful approach in the genetic analysis of disease susceptibility of mental disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.