한국인 조현병 집단에서 활동의존신경보호단백질-2(ADNP2) 유전자의 가족연합분석 : 예비연구
A Family-Based Association Analysis of Activity-Dependent Neuroprotective Protein-2(ADNP2) Gene in a Korean Population with Schizophrenia : A Pilot Study
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Objectives：It is found that imbalance in activity-dependent neuroprotective protein(ADNP) and the homologous protein ADNP2 in schizophrenia may impact the disease progression. Yet, further research is required to clarify their connection to schizophrenia. This is a pilot study for a family-based association analysis of ADNP2 gene in a Korean population with schizophrenia. Methods：Twenty-seven probands with schizophrenia were recruited with their parents and siblings. We have used lifetime dimensions of psychosis scale for measuring psychotic features. Promising endophenotypic markers such as age at interview, apparent onset, apparent onset of psychosis, and first treatment age were also included. We analyzed 2 single nucleotide polymorphisms (SNPs) of ADNP gene. Then, we performed family based association test(FBAT) and linkage disequilibrium analyses for each individual SNPs. Results：A significant SNP of ADNP2 gene in chromosome 18 (p-value<0.05) for the qualitative phenotype of schizophrenia was found (rs575682; ADNP2). The result was replicated for the quantitative phenotype of apparent onset, apparent onset of psychosis, and the first treatment age. We also found one significant SNP of ADNP2 gene in chromosome 18 (p-value<0.05) for the quantitative phenotype of any delusions. (rs575682; ADNP2) No SNPs were found for the quantitative phenotype of any hallucinations. Conclusion：Our results showed that quantitative traits such as age of onset, any delusions, and any hallucinations could be continuous with qualitative trait in schizophrenia. However, a caution must be taken in interpreting these results because there were clear limitations in FBAT analyses which included nominal number of SNPs in the small incomplete pedigrees.
Abstract
Objectives：It is found that imbalance in activity-dependent neuroprotective protein(ADNP) and the homologous protein ADNP2 in schizophrenia may impact the disease progression. Yet, further research is required to clarify their connection to schizophrenia. This is a pilot study for a family-based association analysis of ADNP2 gene in a Korean population with schizophrenia. Methods：Twenty-seven probands with schizophrenia were recruited with their parents and siblings. We have used lifetime dimensions of psychosis scale for measuring psychotic features. Promising endophenotypic markers such as age at interview, apparent onset, apparent onset of psychosis, and first treatment age were also included. We analyzed 2 single nucleotide polymorphisms (SNPs) of ADNP gene. Then, we performed family based association test(FBAT) and linkage disequilibrium analyses for each individual SNPs. Results：A significant SNP of ADNP2 gene in chromosome 18 (p-value<0.05) for the qualitative phenotype of schizophrenia was found (rs575682; ADNP2). The result was replicated for the quantitative phenotype of apparent onset, apparent onset of psychosis, and the first treatment age. We also found one significant SNP of ADNP2 gene in chromosome 18 (p-value<0.05) for the quantitative phenotype of any delusions. (rs575682; ADNP2) No SNPs were found for the quantitative phenotype of any hallucinations. Conclusion：Our results showed that quantitative traits such as age of onset, any delusions, and any hallucinations could be continuous with qualitative trait in schizophrenia. However, a caution must be taken in interpreting these results because there were clear limitations in FBAT analyses which included nominal number of SNPs in the small incomplete pedigrees.
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