정신분열병과 Neuregulin 1 유전자의 연합연구 = Association of Genetic Variations within 5' end of Neuregulin 1 with Schizophrenia in Korean Population

다국어 초록 (Multilingual Abstract)

Objectives : The authors recently found a suggestive evidence of linkage of chromosome 8p21-12 to schizophrenia in Korean multiplex families. Neuregutin 1 (NRGI) was identified in this locus as a positional and functional candidate gene for Schizo-phrenia, through several independent studies with European and Chinese populations. The purpose of this study is to determine whether NRGl 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 NRGI were genotyped for 242 unrelated schizophrenia patients and the same num-ber of normal controls. Genetic association was tested by χ²-test (df=1). Not only for the whole patients group but also for asubgroup 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, 0R=1.76). We also found that 3 SNPs haplotype TTC (p=0.04, 0R=0.58) and five markers haplotype TTC53 (p=0.01,0R=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 : NRGI might either play a mle in the predisposition to schizophrenia or be in linkage disequilibrium with a causal locus of this illness.

참고문헌 (Reference)

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