Adriana Díaz‐Anzaldúa1, Ridha Joober2, Jean‐Baptiste Rivière1, Yves Dion1, Paul Lespérance3, Sylvain Chouinard3,4, François Richer3, Guy A. Rouleau1,4
1McGill University Health Centre, Montreal, Quebec, Canada
2Douglas Hospital Research Centre, Montreal, Quebec, Canada
3Centre Hospitalier de L’Universite De Montreal, Montreal (Quebec), Canada
4Sainte Justine Hospital, Montreal, Quebec, Canada
Tóm tắt
AbstractTourette 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 χ2 = 12.61, 4 df,P = 0.013, genotype‐wise TDT χ2 = 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 (χ2 = 10.68, 4 df,P = 0.03 and χ2 = 12.55, 5 df,P = 0.028, respectively). In addition, marker D7S523 was also associated (allele‐wise TDT χ2 = 18.37, 7 df,P = 0.01 and genotype‐wise TDT χ2 = 46.26, 17 df,P = 0.00016), and showed a tendency for association in the comorbidity‐free subgroup (genotype‐wise TDT χ2 = 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 χ2 = 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. © 2003 Wiley‐Liss, Inc.
