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Chunk #23 — Results — Partitioned Analysis by Chromosome

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Partitioning the heritability of Tourette syndrome and obsessive compulsive disorder reveals differences in genetic architecture.
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To test individual chromosomes for any significant concentration of heritability beyond that expected by chromosome length, SNP number, or gene number, we calculated the expected proportion of heritability for each chromosome based on the number of SNPs (in our data) as well as the number of genes (from SangerVega) on each chromosome, assuming a polygenic model with a uniform distribution of heritability across the genome. A comparative plot of observed “by chromosome” heritability relative to the expected heritability under the uniform distribution model demonstrated that chromosome 15 harbored a larger proportion of heritability for OCD than expected based on either the number of SNPs or number of genes represented on the chromosome (Figures S5 and S6). When chromosome 15 was removed, a significant correlation between chromosome length and heritability was recovered (r = 0.44, p = 0.05). Greater than expected heritability per chromosome was discovered in the TS data for chromosomes 2, 5, 11, 16 and 20 (Figures S7and S8). In addition, some chromosomes contributed less heritability to OCD than expected due to chromosome length alone. Notably chromosome 6, which houses the HLA locus, did not contribute to overall heritability estimates in OCD or TS.