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Published on: July 14, 2016
HFE mutations and transferrin C1/C2 polymorphism among Croatian patients with schizophrenia and schizoaffective
Alena Buretić-Tomljanović1, Jadranka Vraneković, Gordana Rubeša
1Department of Biology and Medical Genetics, School of Medicine, University of Rijeka, Brace Branchetta 20, 51000 Rijeka, Croatia. alena@medri.hr
Insights
This study found no significant link between hemochromatosis (HFE) gene mutations or the transferrin (TF-C2) variant and schizophrenia risk or age of onset in the Croatian population. These genetic factors do not appear to be high-risk indicators for these disorders.
Area of Science:
- Genetics
- Psychiatry
- Medical Research
Background:
- Genetic factors are increasingly implicated in the etiology of psychiatric disorders.
- Hemochromatosis gene (HFE) mutations and transferrin (TF) gene variants are being investigated for their potential roles in various diseases.
- Schizophrenia and schizoaffective disorder have complex genetic underpinnings.
Purpose of the Study:
- To investigate the association between HFE gene mutations (C282Y and H63D) and the TF-C2 variant with susceptibility to schizophrenia and schizoaffective disorder.
- To examine the potential influence of these genetic variants on the age at first hospital admission for these disorders.
Main Methods:
- Genotyping of 176 Croatian patients with schizophrenia/schizoaffective disorder and 171 healthy controls using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Statistical analysis of allele and genotype frequencies.
- Assessment of age at first hospital admission using non-parametric tests (Mann-Whitney U, Kruskal-Wallis) and multiple regression analysis.
Main Results:
- The H63D mutation showed borderline statistical significance in allele and genotype frequencies between patient and control groups.
- No other significant differences in allele or genotype distributions were observed for the investigated HFE mutations and TF-C2 variant.
- Analysis of age at first hospital admission revealed no significant impact of the studied genetic variants.
Conclusions:
- The investigated HFE mutations (C282Y, H63D) and the TF-C2 variant are not identified as high-risk genetic factors for schizophrenia or schizoaffective disorder in the studied Croatian population.
- These genetic variants do not appear to influence the age of onset for the first psychotic symptoms in these disorders.
Abstract:
The aim of this study was to investigate the possible influence of hemochromatosis gene mutations (HFE-C282Y and H63D) and transferrin gene C2 variant (TF-C2) on susceptibility to schizophrenia and schizoaffective disorder and/or age at first hospital admission. Genotyping was performed in 176 Croatian patients and 171 non-psychiatric Croatian controls using PCR-RFLP analyses. Regarding the H63D mutation, allele and genotype frequencies reached boundary statistical significance. Other allele and genotype distributions were not significantly different between two groups. We also analyzed age at first hospital admission as a continuous variable using the non-parametric Mann-Whitney U-test and Kruskal-Wallis test, and multiple regression analysis. The results of these tests were negative. We concluded that investigated HFE mutations and TF-C2 variant are not high-risk genetic variants for schizophrenia/schizoaffective disorder in our population. Also our data do not support their impact on age at onset of the first psychotic symptoms.
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