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 journalArticle

9 Citations (Scopus)

Abstract

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
Volume23
Issue number1
DOIs
Publication statusPublished - 01-02-2013

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Genome-Wide Association Study
Single Nucleotide Polymorphism
Schizophrenia
Population
Genes
Linkage Disequilibrium
Genetic Markers
Psychiatry
Odds Ratio
Confidence Intervals

All Science Journal Classification (ASJC) codes

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

Cite this

Betcheva, E. T., Yosifova, A. G., Mushiroda, T., Kubo, M., Takahashi, A., Karachanak, S. K., ... Nakamura, Y. (2013). Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. Psychiatric Genetics, 23(1), 11-19. https://doi.org/10.1097/YPG.0b013e3283586343
Betcheva, Elitza T. ; Yosifova, Adelina G. ; Mushiroda, Taisei ; Kubo, Michiaki ; Takahashi, Atsushi ; Karachanak, Sena K. ; Zaharieva, Irina T. ; Hadjidekova, Savina P. ; Dimova, Ivanka I. ; Vazharova, Radoslava V. ; Stoyanov, Drozdstoy S. ; Milanova, Vihra K. ; Tolev, Todor ; Kirov, George ; Kamatani, Naoyuki ; Toncheva, Draga I. ; Nakamura, Yusuke. / Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. In: Psychiatric Genetics. 2013 ; Vol. 23, No. 1. pp. 11-19.
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abstract = "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.",
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Betcheva, ET, Yosifova, AG, Mushiroda, T, Kubo, M, Takahashi, A, Karachanak, SK, Zaharieva, IT, Hadjidekova, SP, Dimova, II, Vazharova, RV, Stoyanov, DS, Milanova, VK, Tolev, T, Kirov, G, Kamatani, N, Toncheva, DI & Nakamura, Y 2013, 'Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene', Psychiatric Genetics, vol. 23, no. 1, pp. 11-19. https://doi.org/10.1097/YPG.0b013e3283586343

Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene. / Betcheva, Elitza T.; Yosifova, Adelina G.; Mushiroda, Taisei; Kubo, Michiaki; Takahashi, Atsushi; Karachanak, Sena K.; Zaharieva, Irina T.; Hadjidekova, Savina P.; Dimova, Ivanka I.; Vazharova, Radoslava V.; Stoyanov, Drozdstoy S.; Milanova, Vihra K.; Tolev, Todor; Kirov, George; Kamatani, Naoyuki; Toncheva, Draga I.; Nakamura, Yusuke.

In: Psychiatric Genetics, Vol. 23, No. 1, 01.02.2013, p. 11-19.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Whole-genome-wide association study in the Bulgarian population reveals HHAT as schizophrenia susceptibility gene

AU - Betcheva, Elitza T.

AU - Yosifova, Adelina G.

AU - Mushiroda, Taisei

AU - Kubo, Michiaki

AU - Takahashi, Atsushi

AU - Karachanak, Sena K.

AU - Zaharieva, Irina T.

AU - Hadjidekova, Savina P.

AU - Dimova, Ivanka I.

AU - Vazharova, Radoslava V.

AU - Stoyanov, Drozdstoy S.

AU - Milanova, Vihra K.

AU - Tolev, Todor

AU - Kirov, George

AU - Kamatani, Naoyuki

AU - Toncheva, Draga I.

AU - Nakamura, Yusuke

PY - 2013/2/1

Y1 - 2013/2/1

N2 - 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.

AB - 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.

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