Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette disorder
Identifieur interne : 000323 ( Pmc/Corpus ); précédent : 000322; suivant : 000324Common and rare alleles of the serotonin transporter gene, SLC6A4, associated with Tourette disorder
Auteurs : Pablo R. Moya ; Jens R. Wendland ; Liza M. Rubenstein ; Kiara R. Timpano ; Gary A. Heiman ; Jay A. Tischfield ; Robert A. King ; Anne M. Andrews ; Samanda Ramamoorthy ; Francis J. Mcmahon ; Dennis L. MurphySource :
- Movement disorders : official journal of the Movement Disorder Society [ 0885-3185 ] ; 2013.
Abstract
To evaluate the hypothesis that functionally over-expressing alleles of the serotonin transporter gene
We genotyped the refined 5-HTTLPR/rs25531 locus and the associated rs25532 variant in the
The higher-expressing 5-HTTLPR/rs25531 LA allele was more prevalent in TD probands than controls (χ2=5.75, p=0.017, OR=1.35), and in a secondary analysis, surprisingly found to be significantly more frequent in probands with TD alone than in those with TD plus OCD (Fisher's exact test, p=0.0006, OR=2.29). Likewise, the higher-expressing LAC haplotype (5-HTTLPR/rs25531/rs25532) was more frequent in TD probands than controls (p=0.024, OR=1.33) and likewise in the TD alone versus TD plus OCD group (p=0.0013, OR=2.14). Further, the rare gain-of-function SERT I425V variant was found in three male siblings with TD and/or OCD and in their father. The cumulative count of SERT I425V thus becomes 1.57% in OCD/TD spectrum conditions vs. 0.15% in controls, with a recalculated, family-adjusted significance of χ2=15.03, p < 0.0001, OR=9.0 (total worldwide genotyped=2914).
This report provides a unique combination of common and rare variants in one gene in TD, all found to be associated with
Url:
DOI: 10.1002/mds.25460
PubMed: 23630162
PubMed Central: 3766488
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