Chromosome 11‐q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

Díaz-Anzaldúa, Adriana; Rivière, Jean‐Baptiste; Dubé, Marie‐Pierre; Joober, Ridha; Saint-Onge, Judith; Dion, Yves; Lespérance, Paul; Richer, François; Chouinard, Sylvain; Rouleau, Guy A.

doi:10.1002/ajmg.a.30928

Cited by 9 publications

(6 citation statements)

References 14 publications

(21 reference statements)

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“…Due to the autosomal dominant-like inheritance pattern in some large extended pedigrees with TS and comorbidities, earlier stage of genetic research of TS had focused on genome-wide linkage studies (GWLSs) of TS families, which assess the probability in a given pedigree or pedigrees, where the disease and the genetic marker(s) are cosegregating. Several chromosomal regions were reported as potential candidate loci for TS through GWLSs, including chromosome 3p21–p14 [ 41 ], 4q34–q35 [ 42 , 43 ], 5q35.2–q35.3 [ 43 ], 6p21 [ 44 ], 7q31 [ 45 , 46 , 47 ], 11q23–24 [ 48 , 49 , 50 ], 13q31.1 [ 51 ], 15q21.1–15q21.3 [ 52 ], and 17q25 [ 43 , 53 ]. However, despite the earlier excitement and optimism about gene discovery for TS through GWLS approach, and some chromosomal regions have been implicated in some TS families, no gene or causal mutation of major effect has been discovered for the above-mentioned TS loci, except for the SLITRK1 locus on chromosome 13 [ 51 ] and the HDC locus on chromosome 15 [ 52 ].…”

Section: Genome-wide Linkage Studies Of Tsmentioning

confidence: 99%

Progress in Genetic Studies of Tourette’s Syndrome

Zheng

et al. 2017

Brain Sciences

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Tourette’s Syndrome (TS) is a complex disorder characterized by repetitive, sudden, and involuntary movements or vocalizations, called tics. Tics usually appear in childhood, and their severity varies over time. In addition to frequent tics, people with TS are at risk for associated problems including attention deficit hyperactivity disorder (ADHD), obsessive-compulsive disorder (OCD), anxiety, depression, and problems with sleep. TS occurs in most populations and ethnic groups worldwide, and it is more common in males than in females. Previous family and twin studies have shown that the majority of cases of TS are inherited. TS was previously thought to have an autosomal dominant pattern of inheritance. However, several decades of research have shown that this is unlikely the case. Instead TS most likely results from a variety of genetic and environmental factors, not changes in a single gene. In the past decade, there has been a rapid development of innovative genetic technologies and methodologies, as well as significant progresses in genetic studies of psychiatric disorders. In this review, we will briefly summarize previous genetic epidemiological studies of TS and related disorders. We will also review previous genetic studies based on genome-wide linkage analyses and candidate gene association studies to comment on problems of previous methodological and strategic issues. Our main purpose for this review will be to summarize the new genetic discoveries of TS based on novel genetic methods and strategies, such as genome-wide association studies (GWASs), whole exome sequencing (WES) and whole genome sequencing (WGS). We will also compare the new genetic discoveries of TS with other major psychiatric disorders in order to understand the current status of TS genetics and its relationship with other psychiatric disorders.

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Section: Genome-wide Linkage Studies Of Tsmentioning

confidence: 99%

Progress in Genetic Studies of Tourette’s Syndrome

Zheng

et al. 2017

Brain Sciences

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“…Several groups have linked TS to markers on chromosome 11q24 [6,7]. Diaz-Anzaldua et al [8] did not find an association between TS and six markers from 11q24 in 572 individuals from 199 French Canadian families in which one member in each family had TS.…”

Section: Etiologymentioning

confidence: 99%

An Update on Tourette Syndrome

Kimber

2010

Curr Neurol Neurosci Rep

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Recent advances in our understanding of the phenomenology, etiology, pathophysiology, and treatment of Tourette syndrome are discussed. Tourette syndrome appears to involve dysfunction of limbic and somatosensory "traffic" through the basal ganglia, within corticostriatal-thalamocortical circuits. Dynamic alterations in the balance of these inputs may dictate the manifestations (sensory, motor, affective, and behavioral) of the disorder at any given time. Individualized assessment and treatment are the keys to optimal treatment of this condition.

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“…In Tourette’s syndrome, there is a documented evidence of locus heterogeneity [92,93]. Hence, in a particular family, it may be that these traits are “caused by a single gene” with a high penetrance.…”

Section: Introductionmentioning

confidence: 99%

An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance

Gordon

Londoño

Patel³

et al. 2016

Hum Hered

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Our motivation here is to calculate the power of 3 statistical tests used when there are genetic traits that operate under a pleiotropic mode of inheritance and when qualitative phenotypes are defined by use of thresholds for the multiple quantitative phenotypes. Specifically, we formulate a multivariate function that provides the probability that an individual has a vector of specific quantitative trait values conditional on having a risk locus genotype, and we apply thresholds to define qualitative phenotypes (affected, unaffected) and compute penetrances and conditional genotype frequencies based on the multivariate function. We extend the analytic power and minimum-sample-size-necessary (MSSN) formulas for 2 categorical data-based tests (genotype, linear trend test [LTT]) of genetic association to the pleiotropic model. We further compare the MSSN of the genotype test and the LTT with that of a multivariate ANOVA (Pillai). We approximate the MSSN for statistics by linear models using a factorial design and ANOVA. With ANOVA decomposition, we determine which factors most significantly change the power/MSSN for all statistics. Finally, we determine which test statistics have the smallest MSSN. In this work, MSSN calculations are for 2 traits (bivariate distributions) only (for illustrative purposes). We note that the calculations may be extended to address any number of traits. Our key findings are that the genotype test usually has lower MSSN requirements than the LTT. More inclusive thresholds (top/bottom 25% vs. top/bottom 10%) have higher sample size requirements. The Pillai test has a much larger MSSN than both the genotype test and the LTT, as a result of sample selection. With these formulas, researchers can specify how many subjects they must collect to localize genes for pleiotropic phenotypes.

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Chromosome 11‐q24 region in Tourette syndrome: Association and linkage disequilibrium study in the French Canadian population

Cited by 9 publications

References 14 publications

Progress in Genetic Studies of Tourette’s Syndrome

Progress in Genetic Studies of Tourette’s Syndrome

An Update on Tourette Syndrome

An Analytic Solution to the Computation of Power and Sample Size for Genetic Association Studies under a Pleiotropic Mode of Inheritance

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