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
N1 - Funding Information:
This work was supported by grants from the V Foundation for Cancer Research (V2017-015), National Institutes of Health (R37-CA230042), and Hope Funds for Cancer Research to G.M. DeNicola, and the AACR-Takeda Oncology Lung Cancer Research Fellowship (19-40-38-KANG) to Y.P. Kang. This work was also supported by the Flow Cytometry Core and the Proteomics/ Metabolomics Core, which are funded in part by a Moffitt Cancer Center Support Grant (NCI, P30-CA076292), and grants from the Moffitt Foundation, and a Florida Bankhead-Coley grant (06BS-02–9614) to the Proteomics/Metabolomics Core.
PY - 2013/2
Y1 - 2013/2
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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U2 - 10.1097/YPG.0b013e3283586343
DO - 10.1097/YPG.0b013e3283586343
M3 - Article
C2 - 23142968
AN - SCOPUS:84871725665
SN - 0955-8829
VL - 23
SP - 11
EP - 19
JO - Psychiatric Genetics
JF - Psychiatric Genetics
IS - 1
ER -
