PMID- 15389765
OWN - NLM
STAT- MEDLINE
DCOM- 20050208
LR  - 20200930
IS  - 1552-4841 (Print)
IS  - 1552-4841 (Linking)
VI  - 131B
IP  - 1
DP  - 2004 Nov 15
TI  - Investigation of the human serotonin receptor gene HTR3B in bipolar affective and 
      schizophrenic patients.
PG  - 1-5
AB  - The neurotransmitter serotonin (5-hydroxytryptamine, 5-HT) mediates a multitude 
      of central nervous functions by activating 5-HT receptor subtypes. A dysfunction 
      of serotonergic neurotransmission is considered to play a major role in the 
      pathophysiology of complex neuropsychiatric disorders. In our study, a mutation 
      screen of the serotonin receptor gene HTR3B was carried out to explore a putative 
      contribution to the etiology of bipolar affective disorder (BPAD) and 
      schizophrenia (SZ). Screening of 49 patients suffering from BPAD, 78 patients 
      with SZ and 62 control individuals revealed eleven sequence variations including 
      a 3 bp deletion within the 5'UTR (5' untranslated region), four exonic and five 
      intronic SNPs as well as a point mutation in the 3'UTR of HTR3B. Four of these 
      sequence variations have not been described previously. Statistical computation 
      rated most variants as probably non-disease related polymorphisms. However, IVS6 
      + 31C > T, IVS6 + 40C > A, and 1386T > C were solely detected in bipolar 
      affective patients and in none of the controls. Interestingly, we observed a 
      significant underrepresentation of the 3 bp deletion -100_-102delAAG in an 
      extended sample of 162 bipolar affected patients compared to controls 
      (allele-wise: 8% vs. 15%, P = 0.006, OR = 0.49, 95% CI: 0.3-0.82; genotype-wise: 
      15,5% vs. 29,0%, P = 0.005, OR = 0.45, 95% CI: 0.26-0.77). We suggest that this 
      deletion may influence translational efficiency, thereby possibly affecting the 
      development of bipolar affective disease.
FAU - Frank, Bernd
AU  - Frank B
AD  - Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.
FAU - Niesler, Beate
AU  - Niesler B
FAU - Nothen, Markus M
AU  - Nothen MM
FAU - Neidt, Helge
AU  - Neidt H
FAU - Propping, Peter
AU  - Propping P
FAU - Bondy, Brigitta
AU  - Bondy B
FAU - Rietschel, Marcella
AU  - Rietschel M
FAU - Maier, Wolfgang
AU  - Maier W
FAU - Albus, Margot
AU  - Albus M
FAU - Rappold, Gudrun
AU  - Rappold G
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Med Genet B Neuropsychiatr Genet
JT  - American journal of medical genetics. Part B, Neuropsychiatric genetics : the 
      official publication of the International Society of Psychiatric Genetics
JID - 101235742
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Receptors, Serotonin, 5-HT3)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - 5' Untranslated Regions/chemistry/genetics
MH  - Alleles
MH  - Base Sequence
MH  - Bipolar Disorder/*genetics
MH  - DNA/chemistry/genetics
MH  - DNA Mutational Analysis
MH  - Family Health
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Male
MH  - Molecular Sequence Data
MH  - Mutation
MH  - Nucleic Acid Conformation
MH  - Polymorphism, Single Nucleotide
MH  - Receptors, Serotonin, 5-HT3/*genetics
MH  - Schizophrenia/*genetics
MH  - Sequence Deletion
EDAT- 2004/09/25 05:00
MHDA- 2005/02/09 09:00
CRDT- 2004/09/25 05:00
PHST- 2004/09/25 05:00 [pubmed]
PHST- 2005/02/09 09:00 [medline]
PHST- 2004/09/25 05:00 [entrez]
AID - 10.1002/ajmg.b.30070 [doi]
PST - ppublish
SO  - Am J Med Genet B Neuropsychiatr Genet. 2004 Nov 15;131B(1):1-5. doi: 
      10.1002/ajmg.b.30070.