Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in gilles de la tourette syndrome
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Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in gilles de la tourette syndrome. / Hildonen, Mathis; Levy, Amanda M.; Dahl, Christina; Bjerregaard, Victoria A.; Møller, Lisbeth Birk; Guldberg, Per; Debes, Nanette M.; Tümer, Zeynep.
In: Genes, Vol. 12, No. 1, 86, 2021, p. 1-10.Research output: Contribution to journal › Journal article › Research › peer-review
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T1 - Elevated expression of SLC6A4 encoding the serotonin transporter (SERT) in gilles de la tourette syndrome
AU - Hildonen, Mathis
AU - Levy, Amanda M.
AU - Dahl, Christina
AU - Bjerregaard, Victoria A.
AU - Møller, Lisbeth Birk
AU - Guldberg, Per
AU - Debes, Nanette M.
AU - Tümer, Zeynep
PY - 2021
Y1 - 2021
N2 - Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group.
AB - Gilles de la Tourette syndrome (GTS) is a complex neurodevelopmental disorder characterized by motor and vocal tics. Most of the GTS individuals have comorbid diagnoses, of which obsessive-compulsive disorder (OCD) and attention deficit-hyperactivity disorder (ADHD) are the most common. Several neurotransmitter systems have been implicated in disease pathogenesis, and amongst these, the dopaminergic and the serotonergic pathways are the most widely studied. In this study, we aimed to investigate whether the serotonin transporter (SERT) gene (SLC6A4) was differentially expressed among GTS individuals compared to healthy controls, and whether DNA variants (the SERT-linked polymorphic region 5-HTTLPR, together with the associated rs25531 and rs25532 variants, and the rare Ile425Val variant) or promoter methylation of SLC6A4 were associated with gene expression levels or with the presence of OCD as comorbidity. We observed that SLC6A4 expression is upregulated in GTS individuals compared to controls. Although no specific genotype, allele or haplotype was overrepresented in GTS individuals compared to controls, we observed that the LAC/LAC genotype of the 5-HTTLPR/rs25531/rs25532 three-locus haplotype was associated with higher SLC6A4 mRNA expression levels in GTS individuals, but not in the control group.
KW - 5-HTT
KW - Expression
KW - Gilles de la Tourette syndrome
KW - GTS
KW - Methylation
KW - Obsessive compulsive disorder
KW - OCD
KW - Serotonin
KW - SERT
KW - SLC6A4
U2 - 10.3390/genes12010086
DO - 10.3390/genes12010086
M3 - Journal article
C2 - 33445578
AN - SCOPUS:85099719439
VL - 12
SP - 1
EP - 10
JO - Genes
JF - Genes
SN - 2073-4425
IS - 1
M1 - 86
ER -
ID: 256071844