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HyeRyung Jung,JooYoun Cho,JaeYong Chung,JungRyul Kim,KyungSang Yu,InJin Jang,SangGoo Shin,KyungJin Lee,SoYoung Yoo,Euitae Kim,JunSoo Kwon 대한신경정신의학회 2006 PSYCHIATRY INVESTIGATION Vol.3 No.1
This study aimed to investigate the possible associations between candidate single nucleotide polymorphisms (SNPs) in the 5-HTT and 5-HT2A genes and the susceptibility to and clinical features of OCD. We screened the SNPs in the 5-HTT, 5-HT2A and DRD2 genes in one hundred and forty eight healthy volunteers by two dimensional gene scanning (TDGS). We chose candidate SNPs which were newly detected by TDGS or had previously been linked with psychiatric disorders such as schizophrenia or depression. The 5-HTT gene-linked polymorphic region (HTTLPR), 17 bp variable number of tandem repeats in the second intron (VNTR), 878C>T, and 1815A>C SNPs in the 5-HTT gene, and 102T>C SNP in the 5-HT2A gene were analyzed by PCR or PCR-RFLP as appropriate. “One hundred and fifty seven healthy unrelated Korean volunteers were enrolled as a control group.” There were no significant differences in the allele frequencies or genotype distributions between the OCD patients and the control group. However, we found a significant difference in the age of onset according to gender; the males showed an earlier age of onset compared to the females (17.5 6.4 vs. 23.1 11.2 for the males and females, respectively). This investigation failed to produce evidence that the 5-HTT and 5-HT2A polymorphisms influence the risk for OCD in Koreans. The inheritance of OCD is not simple and most likely involves a number of susceptibility genes and environmental influences.
KyungJin Lee,HyeRyung Jung,JooYoun Cho,HyeYoon Park,DoHyung Kang,InJin Jang,SangGoo Shin,JunSoo Kwon 대한신경정신의학회 2007 PSYCHIATRY INVESTIGATION Vol.4 No.1
Serotonin dysfunction has been implicated in the pathogenesis of obsessive compulsive disorder (OCD). Neurocognitive dysfunction is considered as the core pathology in the OCD. This study aimed to investigate the association of T102C polymorphism of the 5-HT2A receptor gene with the neurocognitive function in OCD. Fifty four patients with OCD were participated in this study. Neurocognitive function tests were administered to the patients with OCD. T102C of the 5-HT2A gene were analyzed by Polymerase Chain Reaction (PCR) amplification and Restriction Fragment Length Polymorphism (RFLP). The distribution of genotypic patterns of T102C was grouped into T/T genotype (n=16), T/C genotype (n=28) and T/T genotype (n=10). The group of patients with T/T genotype demonstrated significant delayed response time in immediate recall (p=0.036) and delayed recall (p=0.038) of Rey-Osterrieth Complex Figure test which was used to evaluate visuospatial construction ability and visuospatial memory. These results showed that T/T genotype of T102C has higher performance deficit in neurocognitive function tests such as RCFT than the other types. We suggest that T102C genotype may contribute to neurocognitive function and neurocognitive function may serve as a good candidate phenotype for association or linkage studies on OCD.