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.

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