Biomedical subjects

Elzbieta Sliwerska

Publications and source records attributed to Elzbieta Sliwerska.

5 recordsLinked to original sources

PubMed2006

SNPs on chips: the hidden genetic code in expression arrays.

Gene expression microarray analysis in postmortem brains is one of the fastest growing fields of psychiatric research. Here we show that common polymorphisms (SNPs) present on probe sets can masquerade as significant "gene expression" differences. After first observing this artifact in the Catechol-O-methyl transferase (COMT) gene, we replicate the finding in two additional genes predicted to show this artifact. Many Affymetrix chips contain thousands of SNPs that are both common and in the central probe region affecting hybridization, and thus have the potential to confound expression analysis.

Analysis of Variance↗

PubMed2004

Mutation incidence in folate metabolism genes and regulatory genes in Polish families with neural tube defects.

Neural tube defects (NTDs) are a common cause of disability or death of new-borns, but the aetiology and genetic background of this disease are still poorly understood. Therefore, it was decided to determine the conditions for the identification of several polymorphisms and to perform a preliminary study on Polish NTD patients and their parents. According to the results of this study, the genetic predisposition to NTD can be correlated with the 677TT genotype in the MTHFR gene, 677CT/1298AC haplotype (the MTHFR gene), 2756G allele in the MTR gene, 66AG variant and minisatellite sequence with 5 or 10 repeats in intron 6 of the MTRR gene. The 530GG and TIVS7-2/TIVS7-2 genotypes in the T gene could also be considered as a risk factor for NTD. The analysis also revealed no correlation between neurulation disturbances and A4956G and A1186G mutations in the BRCA1 gene and the 844ins68bp in CBS gene. Although a correlation was found of some molecular markers with NTD, an additional examination should be conducted on more numerous groups to obtain statistically significant results.

Base Sequence↗

PubMedDate not supplied

[Genetic risk factors of neural tube defects].

Neural tube defects (NTDs) are a group of diseases caused by a failure of closure of the neural tube. Its aetiology contains both environmental and genetic factors. NTDs have a polygenic background. Genes, which are linked with NTDs occurrence, are both directly and indirectly connected with controlling the process of closure of the neural tube. Ones of those are genes of metabolism of folic acid as MTHFR, MTR, MTRR, CBS, MTHFD, folic acid receptors (FR) regulator genes from PAX family, T, PDGFRA and BRCA1 genes.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗

PubMedDate not supplied

[Mutations of MTHFR, MTR, MTRR genes as high risk factors for neural tube defects].

Neural tube defects (NTDs) have a polygenic background. There are numerous genes known to be high-risk genetic factors for NTDs. Ones of them are mutations of foliate metabolisms pathways genes. This paper shows the results of analysis of common mutations of MTHFR, MTR and MTRR genes. Results of screening mutations 2756A-->G and 66A-->G in MTR and MTRR genes respectively show that are might have an effect on NTDs incidence among the examined population. Analysis of data for the studied population does not prove the influence of mutations 677C-->T and 1298A-->C of MTHFR gene on NTDs.

5-Methyltetrahydrofolate-Homocysteine S-Methyltran↗

PubMedDate not supplied

[Influence of impulsivity, suicidality and serotonin genes on treatment outcomes in alcohol dependence].

AIM: The aim of the study was to identify risk factors of relapse by investigating relationships among suicidality, impulsivity, genetic markers of serotonin activity, and relapse in alcohol-dependent patients. METHODS: 90 alcohol dependent patients were followed for 12 months after the baseline assessment, which entailed evaluation of suicidality and impulsivity as well as collection of DNA samples. Polymorphisms of genes involved in the synthesis and activity of the serotonin system were analyzed. After 12 months from the first visit, the patients were re-contacted and interviewed for relapse. RESULTS: Relapse rates were significantly higher among patients with the history of suicidal attempts recorded at the baseline assessment. The genetic analysis showed that patients with the G/G genotype in the 5HTR1A gene were more likely to relapse, whereas patients with the C/C genotype were more likely to abstain. Moreover, there was a strong trend for an association between the G/G genotype and a history of suicide attempts. CONCLUSIONS: High level of suicidality may predict relapse in alcoholic patients. Altered serotonergic function increases the risk of a suicide attempt and may contribute to higher risk of relapse in alcohol dependent patients.

Adult↗