Association between 7q31 markers and tourette syndrome

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 χ 2  = 12.61, 4 df, P  = 0.013, genotype‐wise TDT χ 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 (χ 2  = 10.68, 4 df, P  = 0.03 and χ 2  = 12.55, 5 df, P  = 0.028, respectively). In addition, marker D7S523 was also associated (allele‐wise TDT χ 2  = 18.37, 7 df, P  = 0.01 and genotype‐wise TDT χ 2  = 46.26, 17 df, P  = 0.00016), and showed a tendency for association in the comorbidity‐free subgroup (genotype‐wise TDT χ 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 χ 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. © 2003 Wiley‐Liss, Inc.