Replication of association between a SLITRK1 haplotype and Tourette Syndrome in a large sample of families

Karagiannidis, Iordanis; Rizzo, Renata; Tárnok, Zsanett; Wolańczyk, Tomasz; Nöthen, Markus M.; Lehmkuhl, Gerd; Farkas, Luca; Nagy, Péter; Barta, Csaba; Szymańska, Urszula; Panteloglou, G; Miranda, Débora Marques de; Feng, Yu; Sandor, Paul; Barr, Cathy L.; Paschou, Peristera

doi:10.1038/mp.2011.151

Cited by 64 publications

(65 citation statements)

References 19 publications

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“…They found a significant association between SLITRK1 and rs9593835. Haplotype analyses for all three markers showed overtransmission of the TCT haplotype to TS patients at a statistically significant level, and this finding was further elaborated by Karagiannidis et al (2011). These studies provided support for the involvement of SLITRK1 in TS etiology.…”

Section: Resultssupporting

confidence: 51%

“…Interestingly, the SNPs significantly associated with TS (rs9593835 and rs9546538) are also in high linkage disequilibrium with a cluster of SNPs around 200 kb upstream to SLITRK1, indicating the involvement of regulatory variants in TS pathogenesis (Karagiannidis et al, 2011). The influence of downstream regulatory elements on SLITRK1 expression may also be important as the 13q31.1 breakpoint described by Abelson et al (2005) is 223-433 kb downstream to SLITRK1 and as there is a significant association between the downstream marker rs9593835 and TS (Miranda et al, 2009;Karagiannidis et al, 2011). However, in a recent genome-wide association study, Scharf et al (2012) did not find any support for an association between TS and SNPs located within the 50 kb flanking regions of SLITRK1 (Scharf et al, 2012).…”

Section: Resultsmentioning

confidence: 97%

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Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Yasmeen¹,

Melchior²,

Bertelsen

et al. 2013

Psychiatric Genetics

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Tourette syndrome (TS) is a complex neuropsychiatric disorder characterized by multiple motor and vocal tics and is often accompanied by comorbidities such as attention deficit hyperactivity disorder and obsessive-compulsive disorder. The complex etiology of TS and its co-occurrence with other disorders impedes linking genetic changes with disease segregation. One of the few genes that has been linked to TS is the SLITRK1 (Slit and Trk-like 1) gene, where four variations have been suggested as possible disease-associated changes. One of these variations, which has been reported in six unrelated TS patients, was a noncoding variant (var321) at the 3'-untranslated region of SLITRK1 within a conserved binding site for microRNA has-mir-189. To elucidate the potential role of var321 in disease pathogenesis, a cohort of 112 deeply phenotyped Danish TS patients was investigated for this variation. We could not detect var321 in the present cohort, suggesting that this is not a common variant among Danish TS patients.

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Section: Resultssupporting

confidence: 51%

Section: Resultsmentioning

confidence: 97%

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Yasmeen¹,

Melchior²,

Bertelsen

et al. 2013

Psychiatric Genetics

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show abstract

“…Miranda et al (2009) first carried out an association analysis between TS and the three single nucleotide polymorphisms (SNPs), rs9546538, rs9531520, and rs9593835, tagging the major haplotypes of the gene. Significant associations of rs9593835 and of haplotypes consisting of the three SNP with TS (overtransmission of TCT to the affected patients) were observed in their study (Miranda et al, 2009), which was replicated in the following study (Karagiannidids et al, 2011), but not in the first genomewide association study of TS (the lowest P value in the gene was 0.29 for rs9593836) (Scharf et al, 2013).…”

Section: Introductionmentioning

confidence: 77%

Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer

Inai¹,

Tochigi

Kuwabara³

et al. 2015

Psychiatric Genetics

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The SLITRK1 (Slit and Trk-like 1) gene has been suggested to be a promising candidate for Tourette syndrome (TS) since the first report that identified its two rare variants adjacent to the chromosome inversion in a TS child with inv(13) (q31.1;q33.1). A series of replication studies have been carried out, whereas the role of the gene has not been elucidated. The present study aimed to determine whether the two or novel nonsynonymous variants were identified in Japanese TS patients and carry out an association analysis of the gene in a Japanese population. We did not observe the two or any novel nonsynonymous variants in the gene. In contrast, a significant difference was observed in the distributions of the haplotypes consisting of rs9546538, rs9531520, and rs9593835 between the patients and the controls. This result may partially support the implication of SLITRK1 in the pathogenesis of TS, warranting further studies of the gene.

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“…However, a recent investigation has provided further support for a relationship between the var321 and TS (O'Roak et al 2010 ), and a study including 154 nuclear families with TS also suggests an association between SLITRK1 polymorphisms and the development of TS, although the polymorphisms originally reported by Abelson et al ( 2005 ) were not identifi ed (Miranda et al 2009 ;Karagiannidis et al 2012 ).…”

Section: Diseasesmentioning

confidence: 93%

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

Winther

Walmod

2013

Advances in Neurobiology

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Leucine-rich repeats (LRRs) are motifs that form protein-ligand interaction domains. There are approximately 140 human genes encoding proteins with extracellular LRRs. These encode cell adhesion molecules (CAMs), proteoglycans, G-protein-coupled receptors, and other types of receptors. Here we give a brief description of 36 proteins with extracellular LRRs that all can be characterized as CAMs or putative CAMs expressed in the nervous system. The proteins are involved in multiple biological processes in the nervous system including the proliferation and survival of cells, neuritogenesis, axon guidance, fasciculation, myelination, and the formation and maintenance of synapses. Moreover, the proteins are functionally implicated in multiple diseases including cancer, hearing impairment, glaucoma, Alzheimer's disease, multiple sclerosis, Parkinson's disease, autism spectrum disorders, schizophrenia, and obsessive-compulsive disorders. Thus, LRR-containing CAMs constitute a large group of proteins of pivotal importance for the development, maintenance, and regeneration of the nervous system.

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Replication of association between a SLITRK1 haplotype and Tourette Syndrome in a large sample of families

Cited by 64 publications

References 19 publications

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Sequence analysis of SLITRK1 for var321 in Danish patients with Tourette syndrome and review of the literature

Analysis of SLITRK1 in Japanese patients with Tourette syndrome using a next-generation sequencer

Neural Cell Adhesion Molecules Belonging to the Family of Leucine-Rich Repeat Proteins

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