학술논문
Linkage and Association Analyses of Schizophrenia with Genetic Variations on Chromosome 22q11 in Koreans
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- 영문명
- 발행기관
- 대한신경정신의학회
- 저자명
- SeChang Yoon YongLee Jang JongWon Kim EunYoung Cho DongYeon Park KyungSue Hong YuSang Lee
- 간행물 정보
- 『Psychiatry Investigation』제13권 제6호, 630~636쪽, 전체 7쪽
- 주제분류
- 의약학 > 정신과학
- 파일형태
- 발행일자
- 2016.11.30
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국문 초록
영문 초록
Objective-Chromosome 22q11 has been implicated as a susceptibility locus of schizophrenia. It also contains various candidate genes for which evidence of association with schizophrenia has been reported. To determine whether genetic variations in chromosome 22q11 are associated with schizophrenia in Koreans, we performed a linkage analysis and case-control association study.
Methods-Three microsatellite markers within a region of 4.35 Mb on 22q11 were genotyped for 47 multiplex schizophrenia families, and a non-parametric linkage analysis was applied. The association analysis was done with 227 unrelated patients and 292 normal controls. For 39 single nucleotide polymorphisms (SNPs) spanning a 1.4 Mb region (33 kb interval) containing four candidate schizophrenia genes (DGCR, COMT, PRODH and ZDHHC8), allele frequencies were estimated in pooled DNA samples.
Results-No significant linkage was found at any of the three microsatellite markers in single and multi-point analyses. Five SNPs showed suggestive evidence of association (p<0.05) and two more SNPs showed a trend for association (p<0.1) in pooled DNA association analysis. Individual genotyping was performed for those seven SNPs and four more intragenic SNPs. In this second analysis, all of the 11 SNPs individually genotyped did not show significant association.
Conclusion-The present study suggests that genetic variations on chromosome 22q11 may not play a major role in Korean schizophrenia patients. Inadequate sample size, densities of genetic markers and differences between location of genetic markers of linkage and association can contribute to an explanation of the negative results of this study.
목차
INTRODUCTION
METHODS
RESULTS
DISCUSSION
ACKNOWLEDGEMENTS
REFERENCES
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