Association of C1QB gene polymorphism with schizophrenia in Armenian population

BMC Medical Genetics

Research Article

Frantisek Mrazek¹  Martin Petrek¹  Anna Stahelova¹  Aren Khoyetsyan²  Anna Boyajyan²  Arsen Arakelyan²  Roksana Zakharyan³  Anaida Gevorgyan⁴ 

[1] Laboratory of Immunogenomics and Immunoproteomics, Faculty of Medicine and Dentistry, Palacky University, 6 I. P. Pavlova St, 775 20, Olomouc, Czech Republic;Laboratory of Macromolecular Complexes, Institute of Molecular Biology, National Academy of Sciences of the Republic of Armenia, 7 Hasratyan St, 0014, Yerevan, Armenia;Laboratory of Macromolecular Complexes, Institute of Molecular Biology, National Academy of Sciences of the Republic of Armenia, 7 Hasratyan St, 0014, Yerevan, Armenia;Laboratory of Immunogenomics and Immunoproteomics, Faculty of Medicine and Dentistry, Palacky University, 6 I. P. Pavlova St, 775 20, Olomouc, Czech Republic;Nork clinic attached to Psychiatric Medical Center of the Ministry of Health of the Republic of Armenia, 2a G. Hovsepyan St, 0047, Yerevan, Armenia;

关键词: Schizophrenia;    Schizophrenic Patient;    Frequent Single Nucleotide Polymorphism;    Armenian Population;    Intronic Single Nucleotide Polymorphism;   

DOI  :  10.1186/1471-2350-12-126

 received in 2011-04-20, accepted in 2011-09-28,  发布年份 2011

来源: Springer

【 摘 要 】

BackgroundSchizophrenia is a complex, multifactorial psychiatric disorder. Our previous findings indicated that altered functional activity of the complement system, a major mediator of the immune response, is implicated in the pathogenesis of schizophrenia. In order to explore whether these alterations are genetically determined or not, in the present study we evaluated the possible association of complement C1Q component gene variants with susceptibility to schizophrenia in Armenian population, focusing on four frequent single nucleotide polymorphisms (SNPs) of C1QA and C1QB genes.MethodsIn the present study four SNPs of the complement C1Q component genes (C1QA: rs292001, C1QB rs291982, rs631090, rs913243) were investigated in schizophrenia-affected and healthy subjects. Unrelated Caucasian individuals of Armenian nationality, 225 schizophrenic patients and the same number of age- and sex-matched healthy subjects, were genotyped. Genotyping was performed using polymerase chain reaction with sequence-specific primers (PCR-SSP) and quantitative real-time (qRT) PCR methods.ResultsWhile there was no association between C1QA rs292001, C1QB rs913243 and rs631090 genetic variants and schizophrenia, the C1QB rs291982*G minor allele was significantly overrepresented in schizophrenic patients (G allele frequency 58%) when compared to healthy subjects (46%, OR = 1.64, pcorr = 0.0008). Importantly, the susceptibility for schizophrenia was particularly associated with C1QB rs291982 GG genotype (OR = 2.5, pcorrected = 9.6E-5).ConclusionsThe results obtained suggest that C1QB gene may be considered as a relevant candidate gene for susceptibility to schizophrenia, and its rs291982*G minor allele might represent a risk factor for schizophrenia at least in Armenian population. Replication in other centers/populations is necessary to verify this conclusion.

【 授权许可】

Unknown   
© Zakharyan et al; licensee BioMed Central Ltd. 2011. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.