Presentation Information
[P-17-05]Evaluation of ZNF804A (rs1344706) Polymorphism in a Familial Case of Schizophrenia
*Halil ibrahim tas (Ordu university(Turkey))
Keywords:
genetic,schizophrenia,familial
Objective:
Schizophrenia is a complex neuropsychiatric disorder resulting from the interaction of genetic predisposition and environmental factors. This study aimed to evaluate the genotype-phenotype correlation of the rs1344706 single nucleotide polymorphism (SNP) in the ZNF804A gene within a family affected by schizophrenia.Methods:
Peripheral blood samples were collected from a female proband diagnosed with schizophrenia and five of her close relatives (mother, father, two brothers, and maternal aunt). The rs1344706 SNP genotypes were analyzed and compared with the clinical status of each individual.Results:
The proband, her father, and her brother (also diagnosed with schizophrenia) were found to have the heterozygous T/G genotype. The mother and another, unaffected brother carried the G/G genotype. Interestingly, the maternal aunt—who had no history of psychiatric illness—had the T/T genotype. These findings suggest that while the presence of the T allele may be associated with increased risk for schizophrenia, it is not solely sufficient for disease onset.Conclusion:
The rs1344706 T allele of ZNF804A appears to be a shared genetic factor among affected individuals in this family. However, the occurrence of schizophrenia in a G/G individual (mother) and its absence in a T/T carrier (aunt) implies incomplete penetrance and highlights the importance of other genetic variants or environmental influences. These results support the polygenic and multifactorial nature of schizophrenia.
Schizophrenia is a complex neuropsychiatric disorder resulting from the interaction of genetic predisposition and environmental factors. This study aimed to evaluate the genotype-phenotype correlation of the rs1344706 single nucleotide polymorphism (SNP) in the ZNF804A gene within a family affected by schizophrenia.Methods:
Peripheral blood samples were collected from a female proband diagnosed with schizophrenia and five of her close relatives (mother, father, two brothers, and maternal aunt). The rs1344706 SNP genotypes were analyzed and compared with the clinical status of each individual.Results:
The proband, her father, and her brother (also diagnosed with schizophrenia) were found to have the heterozygous T/G genotype. The mother and another, unaffected brother carried the G/G genotype. Interestingly, the maternal aunt—who had no history of psychiatric illness—had the T/T genotype. These findings suggest that while the presence of the T allele may be associated with increased risk for schizophrenia, it is not solely sufficient for disease onset.Conclusion:
The rs1344706 T allele of ZNF804A appears to be a shared genetic factor among affected individuals in this family. However, the occurrence of schizophrenia in a G/G individual (mother) and its absence in a T/T carrier (aunt) implies incomplete penetrance and highlights the importance of other genetic variants or environmental influences. These results support the polygenic and multifactorial nature of schizophrenia.