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Family-based association studies between 5-HT5A receptor gene and schizophrenia.

AbstractBACKGROUND:
Pharmacological and neurodevelopmental data support the idea that the gene, which codes for the 5-HT(5A) receptor is an important candidate gene for schizophrenia susceptibility. However, previous genetic studies focusing on this gene yielded conflicting results, potentially because of: (i) stratification biases of case-control association studies, (ii) genetic and phenotypic heterogeneity of schizophrenia, and (iii) variability in the loci analyzed (the 5-HT(5A) gene having many polymorphic sites).
METHODS:
A transmission disequilibrium test was used in the present study aimed at investigating two polymorphisms in exon 1 of the 5-HT(5A) gene, the A12T silent substitution and the C43T transversion leading to a 15Pro --> Ser substitution, in 103 patients with DSM-IV diagnosis of schizophrenia, and their 206 parents.
RESULTS:
We found an excess of transmission of the 12T allele from the parents to their affected children (P = 0.02), with evidence for linkage disequilibrium between the 12T-43C haplotype and schizophrenia (P = 0.002). Furthermore, patients with the 12T allele had a significantly later age at onset (P = 0.003), and the Q-TDT approach confirmed that this allele was transmitted with an older age at onset (P = 0.01).
CONCLUSIONS:
These data provided convergent evidence for a significant role of the 5-HT(5A) gene in schizophrenia and more specifically in patients with later age at onset.
AuthorsC Dubertret, N Hanoun, J Adès, M Hamon, P Gorwood
JournalJournal of psychiatric research (J Psychiatr Res) 2004 Jul-Aug Vol. 38 Issue 4 Pg. 371-6 ISSN: 0022-3956 [Print] England
PMID15203288 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Receptors, Serotonin
  • serotonin 5 receptor
Topics
  • Adult
  • Age of Onset
  • Aged
  • Alleles
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Male
  • Middle Aged
  • Pedigree
  • Point Mutation
  • Polymorphism, Genetic
  • Receptors, Serotonin (genetics)
  • Schizophrenia (genetics)

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