LACK OF ASSOCIATION BETWEEN SLITRK1var321 AND TOURETTE SYNDROME IN A LARGE FAMILY-BASED SAMPLE
| Autor: | B. Galloway, Jeremiah M. Scharf, Jesen Fagerness, Jill Platko, Cornelia Illmann, David L. Pauls, Eric Jenike, Priya Moorjani, S. E. Stewart |
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| Rok vydání: | 2008 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Tic disorder Tics Genetic Linkage Population Nerve Tissue Proteins Tourette syndrome Article Genetic linkage Polymorphism (computer science) medicine Humans education Nuclear family Alleles Genetics education.field_of_study Membrane Proteins medicine.disease SLITRK1 Pedigree Female Neurology (clinical) Psychology Tourette Syndrome |
| Zdroj: | Neurology. 70:1495-1496 |
| ISSN: | 1526-632X 0028-3878 |
| DOI: | 10.1212/01.wnl.0000296833.25484.bb |
| Popis: | Tourette syndrome (TS) has a significant genetic component, yet no TS susceptibility genes have been identified definitively. Several studies have determined that first-degree relatives of patients with TS have at least a 5- to 15-fold increased risk of developing the disorder compared with the general population, an increase that represents one of the highest familial recurrence risks among neuropsychiatric diseases that are inherited in a non-Mendelian fashion.1 Recently, Slit- and Trk-like 1 (SLITRK1) was proposed as a candidate TS susceptibility gene, and a noncoding polymorphism in the 3′ untranslated region of this gene (var321) was reported to be associated with TS in a case–control sample.2 Additional studies in small samples or population isolates have failed to replicate this association.3,4 As part of a 20-year collaborative effort, the Tourette Syndrome Association International Consortium for Genetics (TSAICG) has systematically collected a clinical sample of over 1,000 patients with TS and their family members.5 We chose to screen these individuals for SLITRK1 var321 to determine a more accurate estimate of the prevalence of this variant in the white TS clinic population and to test for any association between var321 and TS. ### Methods. A total of 2,300 individuals from 646 independently ascertained nuclear families were recruited from tic disorder specialty clinics from the United States, Canada, Great Britain, and The Netherlands. A total of 1,048 individuals (172 parents and 876 offspring) were diagnosed with either TS (989 subjects) or chronic tics (CT) (59 subjects) (e-Methods on the Neurology ® Web site at www.neurology.org). A total of 440 … |
| Databáze: | OpenAIRE |
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