한국인 조현병 집단에서 신경세포접합분자 유전자의 가족 연합분석: 예비연구 = A Family-Based Association Analysis of Neuronal Cell Adhesion Molecule Gene in a Korean Population with Schizophrenia : A Pilot Study

다국어 초록 (Multilingual Abstract)

Objectives：A recent study performed in a large and heterogenous sample of European ancestry implied that 14 genes previously steadily replicated to contribute to the susceptibility to schizophrenia may play little role. But much work, at both the population and molecular levels, remains before dismissing these genes and their connection to schizophrenia. This is a pilot study for family based association analysis of neuronal cell adhesion molecule(NRCAM) gene in a Korean population with schizophrenia.
Methods：We recruited 27 probands(with schizophrenia) with their parents and siblings whenever possible. For best diagnosis, we have used medical records and a Korean version of diagnostic interview for genetic studies(DIGS) and family interview for genetic studies(FIGS). We analyzed 12 single nucletide polymorphisms(SNPs) of neuronal cell adhesion molecule(NRCAM) gene. We performed family based association test(FBAT) analyses and linkage disequilibrium analyses with each individual SNP.
Results：We did not find any significant SNP of NRCAM gene(p-value＜0.05) for the qualitative phenotype of schizophrenia. But four SNPs within the NRCAM gene(rs381318 , rs1269621, rs2072546, and rs1269634) were in strong linkage disequilibrium with each other(D’＞0.60). Haplotype analyses showed overtransmitted alleles(A-A-G-G, A-A-A-G) with p-value limitation.
Conclusion：Our results show that a single nucleotide polymorphism in NRCAM gene could be associated with the qualitative trait of schizophrenia in Korean families with schizophrenia and help to perform FBAT analyses more finely.

목차 (Table of Contents)

• 서론
• 대상 및 방법
• 결과
• 고찰
• 참고문헌

참고문헌 (Reference)

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