Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene

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

Research output: Contribution to journalArticlepeer-review

12 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)11-19
Number of pages9
JournalPsychiatric Genetics
Issue number1
Publication statusPublished - 02-2013

All Science Journal Classification (ASJC) codes

  • Genetics
  • Genetics(clinical)
  • Psychiatry and Mental health
  • Biological Psychiatry


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