Karagiannidis, Iordanis, Dehning, Sandra, Sandor, Paul ORCID: 0000-0003-2397-0758, Tarnok, Zsanett, Rizzo, Renata ORCID: 0000-0002-3997-1328, Wolanczyk, Tomasz, Madruga-Garrido, Marcos, Hebebrand, Johannes, Noethen, Markus M., Lehmkuhl, Gerd, Farkas, Luca, Nagy, Peter ORCID: 0000-0002-0256-3304, Szymanska, Urszula, Anastasiou, Zachos, Stathias, Vasileios, Androutsos, Christos, Tsironi, Vaia, Koumoula, Anastasia, Barta, Csaba, Zill, Peter, Mir, Pablo ORCID: 0000-0003-1656-302X, Mueller, Norbert, Barr, Cathy ORCID: 0000-0003-0361-0106 and Paschou, Peristera ORCID: 0000-0002-9783-1024 (2013). Support of the histaminergic hypothesis in Tourette Syndrome: association of the histamine decarboxylase gene in a large sample of families. J. Med. Genet., 50 (11). S. 760 - 765. LONDON: BMJ PUBLISHING GROUP. ISSN 1468-6244

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Abstract

Background Gilles de la Tourette Syndrome is a neurodevelopmental disorder that is caused by the interaction of environment with a complex genetic background. The genetic etiology of the disorder remains, so far, elusive, although multiple promising leads have been recently reported. The recent implication of the histamine decarboxylase (HDC) gene, the key enzyme in histamine production, raises the intriguing hypothesis of a possible role of histaminergic dysfunction leading to TS onset. Methods Following up on the finding of a nonsense mutation in a single family with TS, we investigated variation across the HDC gene for association with TS. As a result of a collaborative international effort, we studied a large sample of 520 nuclear families originating from seven European populations (Greek, Hungarian, Italian, Polish, German, Albanian, Spanish) as well as a sample collected in Canada. Results and Conclusions Interrogating 12 tagging SNPs (tSNP) across the HDC region, we find strong over-transmission of alleles at two SNPs (rs854150 and rs1894236) in the complete sample, as well as a statistically significant associated haplotypes. Analysis of individual populations also reveals signals of association in the Canadian, German and Italian samples. Our results provide strong support for the histaminergic hypothesis in TS etiology and point to a possible role of histamine pathways in neuronal development.

Item Type: Journal Article
Creators:
CreatorsEmailORCIDORCID Put Code
Karagiannidis, IordanisUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Dehning, SandraUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sandor, PaulUNSPECIFIEDorcid.org/0000-0003-2397-0758UNSPECIFIED
Tarnok, ZsanettUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rizzo, RenataUNSPECIFIEDorcid.org/0000-0002-3997-1328UNSPECIFIED
Wolanczyk, TomaszUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Madruga-Garrido, MarcosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Hebebrand, JohannesUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Noethen, Markus M.UNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Lehmkuhl, GerdUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Farkas, LucaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Nagy, PeterUNSPECIFIEDorcid.org/0000-0002-0256-3304UNSPECIFIED
Szymanska, UrszulaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Anastasiou, ZachosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Stathias, VasileiosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Androutsos, ChristosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tsironi, VaiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Koumoula, AnastasiaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barta, CsabaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Zill, PeterUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mir, PabloUNSPECIFIEDorcid.org/0000-0003-1656-302XUNSPECIFIED
Mueller, NorbertUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Barr, CathyUNSPECIFIEDorcid.org/0000-0003-0361-0106UNSPECIFIED
Paschou, PeristeraUNSPECIFIEDorcid.org/0000-0002-9783-1024UNSPECIFIED
URN: urn:nbn:de:hbz:38-472391
DOI: 10.1136/jmedgenet-2013-101637
Journal or Publication Title: J. Med. Genet.
Volume: 50
Number: 11
Page Range: S. 760 - 765
Date: 2013
Publisher: BMJ PUBLISHING GROUP
Place of Publication: LONDON
ISSN: 1468-6244
Language: English
Faculty: Unspecified
Divisions: Unspecified
Subjects: no entry
Uncontrolled Keywords:
KeywordsLanguage
L-HISTIDINE DECARBOXYLASE; HUMAN GENOME; PATHWAYS; DISEASE; SYSTEMMultiple languages
Genetics & HeredityMultiple languages
URI: http://kups.ub.uni-koeln.de/id/eprint/47239

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