Investigation of previously implicated genetic variants in chronic tic disorders: a transmission disequilibrium test approach

Transmission disequilibrium test Genome-wide Association Study Candidate gene SNP Genetic Association SNP genotyping
DOI: 10.1007/s00406-017-0808-8 Publication Date: 2017-05-29T16:08:33Z
ABSTRACT
Genetic studies in Tourette syndrome (TS) are characterized by scattered and poorly replicated findings. We aimed to replicate findings from candidate gene genome-wide association (GWAS). Our cohort included 465 probands with chronic tic disorder (93% TS) both parents 412 families (some were siblings). assessed 75 single nucleotide polymorphisms (SNPs) parent-child trios; 117 additional SNPs 211 4 254 trios. performed SNP gene-based transmission disequilibrium tests compared nominally significant results those a large independent case-control cohort. After quality control 71 available 371 112 179 3 192 17 implicated TS 2 obsessive-compulsive (OCD) or autism spectrum (ASD); 142 tagging eight monoamine neurotransmitter-related genes (including dopamine serotonin); 10 top GWAS; 13 attention-deficit/hyperactivity disorder, OCD, ASD GWAS. None of the reached significance after adjustment for multiple testing. observed nominal rs3744161 (TBCD) rs4565946 (TPH2) five SNPs; none these showed Also, SLC1A1 our analysis two GWAS significance, rs11603305 (intergenic) rs621942 (PICALM). found no convincing support previously genetic polymorphisms. Targeted re-sequencing should fully appreciate relevance genes.
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