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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
PLoS genetics, 2013-10, Vol.9 (10), p.e1003864
2013
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Autor(en) / Beteiligte
Titel
Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture
Ist Teil von
  • PLoS genetics, 2013-10, Vol.9 (10), p.e1003864
Ort / Verlag
United States: Public Library of Science
Erscheinungsjahr
2013
Quelle
MEDLINE
Beschreibungen/Notizen
  • The direct estimation of heritability from genome-wide common variant data as implemented in the program Genome-wide Complex Trait Analysis (GCTA) has provided a means to quantify heritability attributable to all interrogated variants. We have quantified the variance in liability to disease explained by all SNPs for two phenotypically-related neurobehavioral disorders, obsessive-compulsive disorder (OCD) and Tourette Syndrome (TS), using GCTA. Our analysis yielded a heritability point estimate of 0.58 (se = 0.09, p = 5.64e-12) for TS, and 0.37 (se = 0.07, p = 1.5e-07) for OCD. In addition, we conducted multiple genomic partitioning analyses to identify genomic elements that concentrate this heritability. We examined genomic architectures of TS and OCD by chromosome, MAF bin, and functional annotations. In addition, we assessed heritability for early onset and adult onset OCD. Among other notable results, we found that SNPs with a minor allele frequency of less than 5% accounted for 21% of the TS heritability and 0% of the OCD heritability. Additionally, we identified a significant contribution to TS and OCD heritability by variants significantly associated with gene expression in two regions of the brain (parietal cortex and cerebellum) for which we had available expression quantitative trait loci (eQTLs). Finally we analyzed the genetic correlation between TS and OCD, revealing a genetic correlation of 0.41 (se = 0.15, p = 0.002). These results are very close to previous heritability estimates for TS and OCD based on twin and family studies, suggesting that very little, if any, heritability is truly missing (i.e., unassayed) from TS and OCD GWAS studies of common variation. The results also indicate that there is some genetic overlap between these two phenotypically-related neuropsychiatric disorders, but suggest that the two disorders have distinct genetic architectures.
Sprache
Englisch
Identifikatoren
ISSN: 1553-7404, 1553-7390
eISSN: 1553-7404
DOI: 10.1371/journal.pgen.1003864
Titel-ID: cdi_plos_journals_1458933076
Format
–
Schlagworte
Alcoholism, Architecture, Brain research, Cell differentiation, Child & adolescent psychiatry, Chromosomes, Estimates, Gene expression, Gene Frequency, Genetic aspects, Genetics, Genome-Wide Association Study, Genomes, Health risk assessment, Humans, Medicin och hälsovetenskap, Neurogenetics, Neuroses, Obsessive-compulsive disorder, Obsessive-Compulsive Disorder - genetics, Obsessive-Compulsive Disorder - pathology, Phenotype, Physiological aspects, Polymorphism, Single Nucleotide, Quantitative Trait, Heritable, Risk factors, Studies, Tourette syndrome, Tourette Syndrome - genetics, Tourette Syndrome - pathology, Tourette's syndrome

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