Document Detail

Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene.
MedLine Citation:
PMID:  23142968     Owner:  NLM     Status:  MEDLINE    
OBJECTIVE: Schizophrenia, the most common major psychiatric disorder (or group of disorders), entails severe decline of higher functions, principally with alterations in cognitive functioning and reality perception. Both genetic and environmental factors are involved in its pathogenesis; however, its genetic background still needs to be clarified. The objective of the study was to reveal genetic markers associated with schizophrenia in the Bulgarian population.
METHODS: We have conducted a genome-wide association study using 554 496 single nucleotide polymorphisms (SNPs) in 188 affected and 376 unaffected Bulgarian individuals. Subsequently, the 100 candidate SNPs that revealed the smallest P-values were further evaluated in an additional set of 99 case and 328 control samples.
RESULTS: We found a significant association between schizophrenia and the intronic SNP rs7527939 in the HHAT gene (P-value of 6.49×10 with an odds ratio of 2.63, 95% confidence interval of 1.89-3.66). We also genotyped additional SNPs within a 58-kb linkage disequilibrium block surrounding the landmark SNP.
CONCLUSION: We suggest rs7527939 to be the strongest indicator of susceptibility to schizophrenia in the Bulgarian population within the HHAT locus.
Elitza T Betcheva; Adelina G Yosifova; Taisei Mushiroda; Michiaki Kubo; Atsushi Takahashi; Sena K Karachanak; Irina T Zaharieva; Savina P Hadjidekova; Ivanka I Dimova; Radoslava V Vazharova; Drozdstoy S Stoyanov; Vihra K Milanova; Todor Tolev; George Kirov; Naoyuki Kamatani; Draga I Toncheva; Yusuke Nakamura
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Psychiatric genetics     Volume:  23     ISSN:  1473-5873     ISO Abbreviation:  Psychiatr. Genet.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2012-12-18     Completed Date:  2013-09-20     Revised Date:  2014-02-20    
Medline Journal Info:
Nlm Unique ID:  9106748     Medline TA:  Psychiatr Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  11-9     Citation Subset:  IM    
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MeSH Terms
Acyltransferases / genetics*
Aged, 80 and over
Case-Control Studies
Chromosomes, Human, Pair 1 / genetics
Gene Frequency / genetics
Genetic Predisposition to Disease*
Genetics, Population
Genome-Wide Association Study*
Haplotypes / genetics
Linkage Disequilibrium / genetics
Middle Aged
Models, Genetic
Physical Chromosome Mapping
Polymorphism, Single Nucleotide / genetics
Reproducibility of Results
Schizophrenia / enzymology*,  genetics*
Young Adult
Grant Support
G0800509//Medical Research Council
Reg. No./Substance:
EC 2.3.-/Acyltransferases; EC 2.3.1.-/HHAT protein, human

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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