title: Association between 7q31 markers and Tourette syndrome.
abstract: Tourette syndrome (TS) is a complex neuropychiatric disorder with a strong genetic basis. Although no specific susceptibility genes have been identified for TS, cytogenetic studies in selected cases suggest the existence of a predisposing gene located in the 7q31 chromosomal region. In order to test the hypothesis of a possible relationship between this region and TS at the population level, we undertook a family based association study in a sample of French Canadian patients from Quebec. For this purpose, markers D7S522, D7S523, and D7S1516 were tested using the extended transmission disequilibrium test (e-TDT). Marker D7S522 showed a biased transmission of alleles from heterozygote parents to their TS offsprings (allele-wise TDT chi(2) = 12.61, 4 df, P = 0.013, genotype-wise TDT chi(2) = 15.49, 7 df, P = 0.030). When the analysis was restricted to patients without ADHD or OCD comorbidity, similar results were observed both allele and genotype-wise (chi(2) = 10.68, 4 df, P = 0.03 and chi(2) = 12.55, 5 df, P = 0.028, respectively). In addition, marker D7S523 was also associated (allele-wise TDT chi(2) = 18.37, 7 df, P = 0.01 and genotype-wise TDT chi(2) = 46.26, 17 df, P = 0.00016), and showed a tendency for association in the comorbidity-free subgroup (genotype-wise TDT chi(2) = 18.7, 10 df, P = 0.044). Finally, marker D7S1516, contained in the inner mitochondrial membrane peptidase 2 like (IMMP2L) gene, also showed a tendency for association (genotype-wise TDT chi(2) = 32.87, 21 df, P = 0.048). These results may reflect the proximity of markers D7S522, D7S523, and possibly D7S1516 to a gene or regulatory region relevant to TS predisposition.
authors.affiliation: McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Adriana
authors.initials: A
authors.lastname: Díaz-Anzaldúa
authors.affiliation: Douglas Hospital Research Centre, Montreal, Quebec, Canada.
authors.forename: Ridha
authors.initials: R
authors.lastname: Joober
authors.affiliation: McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Rivière
authors.affiliation: McGill University Health Centre, Montreal, Quebec, Canada.
authors.forename: Yves
authors.initials: Y
authors.lastname: Dion
authors.affiliation: Centre Hospitalier de l'Universite de Montreal, Montreal, Quebec, Canada.
authors.forename: Paul
authors.initials: P
authors.lastname: Lespérance
authors.affiliation: Sainte Justine Hospital, Montreal, Quebec, Canada.|Centre Hospitalier de l'Universite de Montreal, Montreal, Quebec, Canada.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Chouinard
authors.affiliation: Centre Hospitalier de l'Universite de Montreal, Montreal, Quebec, Canada.
authors.forename: Francois
authors.initials: F
authors.lastname: Richer
authors.affiliation: McGill University Health Centre, Montreal, Quebec, Canada.|Sainte Justine Hospital, Montreal, Quebec, Canada.
authors.forename: Guy Armand
authors.initials: GA
authors.lastname: Rouleau
authors.affiliation: McGill University Health Centre, Montreal, Quebec, Canada.|Douglas Hospital Research Centre, Montreal, Quebec, Canada.|Sainte Justine Hospital, Montreal, Quebec, Canada.|Centre Hospitalier de l'Universite de Montreal, Montreal, Quebec, Canada.
mesh_terms: D000328:Adult; D000483:Alleles; D001289:Attention Deficit Disorder with Hyperactivity / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D015897:Comorbidity; D016172:DNA Fingerprinting; D010450:Endopeptidases / Q000235:genetics; D005260:Female; D005819:Genetic Markers; D006801:Humans; D015810:Linkage Disequilibrium; D008297:Male; D009771:Obsessive-Compulsive Disorder / Q000235:genetics; D011110:Polymorphism, Genetic; D011792:Quebec; D005879:Tourette Syndrome / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D010450:Endopeptidases; C425070:IMMP2L protein, human