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

Abstract : 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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https://www.hal.inserm.fr/inserm-00124742
Contributor : Catalina Betancur <>
Submitted on : Tuesday, January 16, 2007 - 10:37:15 AM
Last modification on : Friday, May 15, 2020 - 12:22:04 PM
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Richard Delorme, Christelle Durand, Catalina Betancur, Michael Wagner, Stephan Ruhrmann, et al.. No human tryptophan hydroxylase-2 gene R441H mutation in a large cohort of psychiatric patients and control subjects.. Biological Psychiatry, Elsevier, 2006, 60 (2), pp.202-3. ⟨10.1016/j.biopsych.2005.12.014⟩. ⟨inserm-00124742⟩

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