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정신분열병과 Neuregulin 1 유전자의 연합연구

Association of Genetic Variations within 5' end of Neuregulin 1 with Schizophrenia in Korean Population

홍경수|윤세창|김종원|이유상|장수연|조은영|전현옥|조승희|장용이|박동연
대한신경정신의학회 (Korean Neuropsychiatric Association)|2005.05|신경정신의학 (JOURNAL OF THE KOREAN NEUROPSYCHIATRIC ASSOCIATION)|제44권 제3호|pp. 287-294

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참고문헌

키워드

Schizophrenia·Neuregulin 1·Genetic association.
주제분류정신과학

초록

Objectives：The authors recently found a suggestive evidence of linkage of chromosome 8p21-12 to schizophrenia in Korean multiplex families. Neuregulin 1 (NRG1) was identified in this locus as a positional and functional candidate gene for schizophrenia, through several independent studies with European and Chinese populations. The purpose of this study is to determine whether NRG1 is associated with schizophrenia in Korean population. Methods：Three SNPs (SNP8NRG221533, SNP8NRG241930, SNP8NRG243177) and two microsatellites markers (478B14- 848, 420M9-1395) located at the 5’ end of NRG1 were genotyped for 242 unrelated schizophrenia patients and the same number of normal controls. Genetic association was tested by χ2-test (df=1). Not only for the whole patients group but also for a subgroup of patients with auditory hallucination. This subtype showed stronger linkage with chromosome 8p12 in the prior study of the authors with multiplex families. Results：G allele of SNP8NRG241930 was significantly in excess in the subgroup of patients with auditory hallucination compared to the control group (p=0.03, OR=1.76). We also found that 3 SNPs haplotype TTC (p=0.04, OR=0.58) and five markers haplotype TTC53 (p=0.01, OR=0.49) were associated with schziophrenia with a protective effect. Three SNPs haplotype CGT which is a part of the at-risk haplotype of the Icelandic schizophrenia families was found in excess in the patients group but no significant association was observed. Conclusion：NRG1 might either play a role in the predisposition to schizophrenia or be in linkage disequilibrium with a causal locus of this illness.

Abstract

Objectives：The authors recently found a suggestive evidence of linkage of chromosome 8p21-12 to schizophrenia in Korean multiplex families. Neuregulin 1 (NRG1) was identified in this locus as a positional and functional candidate gene for schizophrenia, through several independent studies with European and Chinese populations. The purpose of this study is to determine whether NRG1 is associated with schizophrenia in Korean population. Methods：Three SNPs (SNP8NRG221533, SNP8NRG241930, SNP8NRG243177) and two microsatellites markers (478B14- 848, 420M9-1395) located at the 5’ end of NRG1 were genotyped for 242 unrelated schizophrenia patients and the same number of normal controls. Genetic association was tested by χ2-test (df=1). Not only for the whole patients group but also for a subgroup of patients with auditory hallucination. This subtype showed stronger linkage with chromosome 8p12 in the prior study of the authors with multiplex families. Results：G allele of SNP8NRG241930 was significantly in excess in the subgroup of patients with auditory hallucination compared to the control group (p=0.03, OR=1.76). We also found that 3 SNPs haplotype TTC (p=0.04, OR=0.58) and five markers haplotype TTC53 (p=0.01, OR=0.49) were associated with schziophrenia with a protective effect. Three SNPs haplotype CGT which is a part of the at-risk haplotype of the Icelandic schizophrenia families was found in excess in the patients group but no significant association was observed. Conclusion：NRG1 might either play a role in the predisposition to schizophrenia or be in linkage disequilibrium with a causal locus of this illness.

참고문헌 (28)

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