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No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.

Artikel i vetenskaplig tidskrift
Författare Richard Delorme
Christelle M Durand
Catalina Betancur
Michael Wagner
Stephan Ruhrmann
Hans-Juergen Grabe
Gudrun Nygren
Christopher Gillberg
Marion Leboyer
Thomas Bourgeron
Philippe Courtet
Fabrice Jollant
Catherine Buresi
Jean-Michel Aubry
Patrick Baud
Guido Bondolfi
Gilles Bertschy
Nader Perroud
Alain Malafosse
Publicerad i Biological Psychiatry
Volym 60
Nummer/häfte 2
Sidor 202-203
ISSN 0006-3223
Publiceringsår 2006
Publicerad vid Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
Sidor 202-203
Språk en
Länkar dx.doi.org/10.1016/j.biopsych.2005....
Ämnesord Adult, Alleles, Chromosomes, Genetics, Cohort Studies, Female, Gene Frequency, Humans, Male, Mental Disorders, Genetics, Middle Aged, Mutation, Genetics, Polymorphism, Single Nucleotide, Genetics, Tryptophan Hydroxylase, Genetics
Ämneskategorier Psykiatri

Sammanfattning

BACKGROUND: It was recently reported that a rare functional variant, R441H, in the human tryptophan hydroxylase-2 gene (hTPH2) could represent an important risk factor for unipolar major depression (UP) since it was originally found in 10% of UP patients (vs. 1.4% in control subjects). METHODS: We explored the occurrence of this variation in patients with affective disorders (n = 646), autism spectrum disorders (n = 224), and obsessive-compulsive disorder (OCD) (n = 201); in healthy volunteers with no psychiatric disorders (n = 246); and in an ethnic panel of control individuals from North Africa, Sub-Saharan Africa, India, China, and Sweden (n = 277). RESULTS: Surprisingly, we did not observe the R441H variant in any of the individuals screened (3188 independent chromosomes). CONCLUSIONS: Our results do not confirm the role of the R441H mutation of the hTPH2 gene in the susceptibility to UP. The absence of the variant from a large cohort of psychiatric patients and control subjects suggests that the findings reported in the original study could be due to a genotyping error or to stratification of the initial population reported. Additional data by other groups should contribute to the clarification of the discrepancy between our results and those previous published.

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