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Gender-Specific Associations between CHGB Genetic Variants and Schizophrenia in a Korean Population
신중곤,신형두,김정현,박철수,김봉조,김재원,최인근,황재욱,우성일 연세대학교의과대학 2017 Yonsei medical journal Vol.58 No.3
Purpose: Schizophrenia is a devastating mental disorder and is known to be affected by genetic factors. The chromogranin B (CHGB), a member of the chromogranin gene family, has been proposed as a candidate gene associated with the risk of schizophrenia. The secretory pathway for peptide hormones and neuropeptides in the brain is regulated by chromogranin proteins. The aim of this study was to investigate the potential associations between genetic variants of CHGB and schizophrenia susceptibility. Materials and Methods: In the current study, 15 single nucleotide polymorphisms of CHGB were genotyped in 310 schizophreniapatients and 604 healthy controls. Results: Statistical analysis revealed that two genetic variants (non-synonymous rs910122; rs2821 in 3’-untranslated region) were associated with schizophrenia [minimum p=0.002; odds ratio (OR)=0.72], even after correction for multiple testing (pcorr=0.02). Since schizophrenia is known to be differentially expressed between sexes, additional analysis for sex was performed. As a result, these two genetic variants (rs910122 and rs2821) and a haplotype (ht3) showed significant associations with schizophrenia in male subjects (pcorr=0.02; OR=0.64), whereas the significance disappeared in female subjects (p>0.05). Conclusion: Although this study has limitations including a small number of samples and lack of functional study, our results suggest that genetic variants of CHGB may have sex-specific effects on the risk of schizophrenia and provide useful preliminary information for further study.
신중곤,정현섭,제이슨 용하 김,김영효,한창수,김지온,김혜돈,김영훈,정면우,한순영,신형두 대한의학회 2013 Journal of Korean medical science Vol.28 No.8
Dihydropyrimidine dehydrogenase (DPYD) is an enzyme that regulates the rate-limiting step in pyrimidine metabolism, especially catabolism of fluorouracil, a chemotherapeutic agent for cancer. In order to determine the genetic distribution of DPYD, we directly sequenced 288 subjects from five ethnic groups (96 Koreans, 48 Japanese, 48 Han Chinese,48 African Americans, and 48 European Americans). As a result, 56 polymorphisms were observed, including 6 core polymorphisms and 18 novel polymorphisms. Allele frequencies were nearly the same across the Asian populations, Korean, Han Chinese and Japanese,whereas several SNPs showed different genetic distributions between Asians and other ethnic populations (African American and European American). Additional in silico analysis was performed to predict the function of novel SNPs. One nonsynonymous SNP (+199381A > G, Asn151Asp) was predicted to change its polarity of amino acid (Asn,neutral to Asp, negative). These findings would be valuable for further research, including pharmacogenetic and drug responses studies.