Association of C1QB gene polymorphism with schizophrenia in Armenian population

<p>Abstract</p> <p>Background</p> <p>Schizophrenia 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 <it>C1QA </it>and <it>C1QB </it>genes.</p> <p>Methods</p> <p>In the present study four SNPs of the complement C1Q component genes (<it>C1QA</it>: rs292001, <it>C1QB </it>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.</p> <p>Results</p> <p>While there was no association between <it>C1QA </it>rs292001, <it>C1QB </it>rs913243 and rs631090 genetic variants and schizophrenia, the <it>C1QB </it>rs291982*G minor allele was significantly overrepresented in schizophrenic patients (G allele frequency 58%) when compared to healthy subjects (46%, OR = 1.64, <it>p</it>_corr= 0.0008). Importantly, the susceptibility for schizophrenia was particularly associated with <it>C1QB </it>rs291982 GG genotype (OR = 2.5, <it>p</it>_corrected= 9.6E-5).</p> <p>Conclusions</p> <p>The results obtained suggest that <it>C1QB </it>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.</p

Variation in the <it>IL1B</it>, <it>TNF</it> and <it>IL6</it> genes and individual susceptibility to prosthetic joint infection

<p>Abstract</p> <p>Background</p> <p>Prosthetic joint infection (PJI) is an important failure mechanism of total joint arthroplasty (TJA). Here we examine whether the particular genetic variants can lead to increased susceptibility to PJI development.</p> <p>Results</p> <p>We conducted a genetic-association study to determine whether PJI could be associated with functional cytokine gene polymorphisms (CGP) influencing on innate immunity response. A case–control design was utilized and previously published criteria for PJI were included to distinguish between cases and control subjects with/without TJA. Six single nucleotide polymorphisms (SNPs) located in the genes for interleukin-1beta (SNP: <it>IL1B</it>-511, +3962), tumour necrosis factor alpha (<it>TNF</it>-308, -238) and interleukin-6 (<it>IL6</it>-174, nt565) were genotyped in 303 Caucasian (Czech) patients with TJA (89 with PJI / 214 without PJI), and 168 unrelated healthy Czech individuals without TJA. The results showed that carriers of the less common <it>IL1B</it>−511*T allele were overrepresented in the group of TJA patients with PJI (69%) in comparison with those that did not develop PJI (51%, p = 0.006, p_corr = 0.037) and with healthy controls (55%, p = 0.04, p_corr = N.S.). There was no significant difference in the distribution of the remaining five investigated CGPs and their haplotypes between groups.</p> <p>Conclusion</p> <p>A functional variant of the gene encoding for IL-1beta was preliminarily nominated as a genetic factor contributing to the susceptibility to PJI. Our results should be independently replicated; studies on the functional relevance of <it>IL1B</it> gene variants in PJI are also needed.</p