@article{TEXTUAL,
      recid = {10895},
      author = {Davis, Lea K. and Yu, Dongmei and Keenan, Clare L. and  Gamazon, Eric R. and Konkashbaev, Anuar I. and Derks, Eske  M. and Neale, Benjamin M. and Yang, Jian and Lee, S. Hong  and Evans, Patrick and Barr, Cathy L. and Bellodi, Laura  and Benarroch, Fortu and Berrio, Gabriel Bedoya and  Bienvenu, Oscar J. and Bloch, Michael H. and Blom, Rianne  M. and Bruun, Ruth D. and Budman, Cathy L. and Camarena,  Beatriz},
      title = {Partitioning the Heritability of Tourette Syndrome and  Obsessive Compulsive Disorder Reveals Differences in  Genetic Architecture},
      journal = {PLOS Genetics},
      address = {2013-10-24},
      number = {TEXTUAL},
      abstract = {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.},
      url = {http://knowledge.uchicago.edu/record/10895},
}