Neuron · 2017

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

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Huang Alden Y, Yu Dongmei, Davis Lea K, Sul Jae Hoon, Tsetsos Fotis, Ramensky Vasily, Zelaya Ivette, Ramos Eliana Marisa, Osiecki Lisa, Chen Jason A, McGrath Lauren M, Illmann Cornelia, Sandor Paul, Barr Cathy L, Grados Marco, Singer Harvey S, Nöthen Markus M, Hebebrand Johannes, King Robert A, Dion Yves, Rouleau Guy, Budman Cathy L, Depienne Christel, Worbe Yulia, Hartmann Andreas, Müller-Vahl Kirsten R, Stuhrmann Manfred, Aschauer Harald, Stamenkovic Mara, Schloegelhofer Monika, Konstantinidis Anastasios, Lyon Gholson J, McMahon William M, Barta Csaba, Tarnok Zsanett, Nagy Peter, Batterson James R, Rizzo Renata, Cath Danielle C, Wolanczyk Tomasz, Berlin Cheston, Malaty Irene A, Okun Michael S, Woods Douglas W, Rees Elliott, Pato Carlos N, Pato Michele T, Knowles James A, Posthuma Danielle, Pauls David L, Cox Nancy J, Neale Benjamin M, Freimer Nelson B, Paschou Peristera, Mathews Carol A, Scharf Jeremiah M, Coppola Giovanni, Tourette Syndrome Association International Consortium for Genetics (TSAICG), Gilles de la Tourette Syndrome GWAS Replication Initiative (GGRI)

Аннотация

Tourette syndrome (TS) is a model neuropsychiatric disorder thought to arise from abnormal development and/or maintenance of cortico-striato-thalamo-cortical circuits. TS is highly heritable, but its underlying genetic causes are still elusive, and no genome-wide significant loci have been discovered to date. We analyzed a European ancestry sample of 2,434 TS cases and 4,093 ancestry-matched controls for rare (< 1% frequency) copy-number variants (CNVs) using SNP microarray data. We observed an enrichment of global CNV burden that was prominent for large (> 1 Mb), singleton events (OR = 2.28, 95% CI [1.39-3.79], p = 1.2 × 10-3) and known, pathogenic CNVs (OR = 3.03 [1.85-5.07], p = 1.5 × 10-5). We also identified two individual, genome-wide significant loci, each conferring a substantial increase in TS risk (NRXN1 deletions, OR = 20.3, 95% CI [2.6-156.2]; CNTN6 duplications, OR = 10.1, 95% CI [2.3-45.4]). Approximately 1% of TS cases carry one of these CNVs, indicating that rare structural variation contributes significantly to the genetic architecture of TS.

Rare Copy Number Variants in NRXN1 and CNTN6 Increase Risk for Tourette Syndrome.

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