정신분열병과 Neuregulin 1 유전자의 연합연구

• 영문명: Association of Genetic Variations within 5’ end of Neuregulin 1 with Schizophrenia in Korean Population
• 발행기관: 대한신경정신의학회
• 저자명: 박동연 이유상 조은영 조승희 장용이 전현옥 장수연 윤세창 김종원 홍경수
• 간행물 정보: 『신경정신의학』제44권 제3호, 287~294쪽, 전체 8쪽
• 주제분류: 의약학 > 정신과학
• 파일형태: PDF
• 발행일자: 2005.05.30

영문 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.

목차

서 론

방 법

결 과

고 찰

결 론

REFERENCES

키워드

Schizophrenia Neuregulin 1 Genetic association