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Common variants at the promoter region of the APOM confer a risk of rheumatoid arthritis
허혜진,정연준,진은희,Seon-Hee Yim,So-Young Yang,정승현,Seung-Hun Shin,김완욱,심승철,김태규 생화학분자생물학회 2011 Experimental and molecular medicine Vol.43 No.11
Although the genetic component in the etiology of rheumatoid arthritis (RA) has been consistently suggested,many novel genetic loci remain to uncover. To identify RA risk loci, we performed a genome-wide association study (GWAS) with 100 RA cases and 600controls using Affymetrix SNP array 5.0. The candidate risk locus (APOM gene) was re-sequenced to discover novel promoter and coding variants in a group of the subjects. Replication was performed with the independent case-control set comprising of 578 RAs and 711 controls. Through GWAS, we identified a novel SNP associated with RA at the APOM gene in the MHC class III region on 6p21.33 (rs805297, odds ratio (OR)= 2.28, P = 5.20 × 10-7). Three more polymorphisms were identified at the promoter region of the APOM by the re-sequencing. For the replication, we genotyped the four SNP loci in the independent case-control set. The association of rs805297 identified by GWAS was successfully replicated (OR = 1.40, P = 6.65 × 10-5). The association became more significant in the combined analysis of discovery and replication sets (OR =1.56, P = 2.73 × 10-10). The individuals with the rs805297 risk allele (A) at the promoter region showed a significantly lower level of APOM expression compared with those with the protective allele (C)homozygote. In the logistic regressions by the phenotype status, the homozygote risk genotype (A/A) consistently showed higher ORs than the heterozygote one (A/C) for the phenotype-positive RAs. These results indicate that APOM promoter polymorphisms are significantly associated with the susceptibility to RA.
허혜진,김형규,염재범,조성우,송인성,이선영,고태희,김나리,고경수,이병두,한진 생화학분자생물학회 2016 Experimental and molecular medicine Vol.48 No.-
Mitochondria are crucial for maintaining the properties of embryonic stem cells (ESCs) and for regulating their subsequent differentiation into diverse cell lineages, including cardiomyocytes. However, mitochondrial regulators that manage the rate of differentiation or cell fate have been rarely identified. This study aimed to determine the potential mitochondrial factor that controls the differentiation of ESCs into cardiac myocytes. We induced cardiomyocyte differentiation from mouse ESCs (mESCs) and performed microarray assays to assess messenger RNA (mRNA) expression changes at differentiation day 8 (D8) compared with undifferentiated mESCs (D0). Among the differentially expressed genes, Pdp1 expression was significantly decreased (27-fold) on D8 compared to D0, which was accompanied by suppressed mitochondrial indices, including ATP levels, membrane potential, ROS and mitochondrial Ca2+. Notably, Pdp1 overexpression significantly enhanced the mitochondrial indices and pyruvate dehydrogenase activity and reduced the expression of cardiac differentiation marker mRNA and the cardiac differentiation rate compared to a mock control. In confirmation of this, a knockdown of the Pdp1 gene promoted the expression of cardiac differentiation marker mRNA and the cardiac differentiation rate. In conclusion, our results suggest that mitochondrial PDP1 is a potential regulator that controls cardiac differentiation at an early differentiation stage in ESCs.
지역아동센터 아동의 또래 관계 기술 증진을 위한 창작 음악극 프로그램 효과 연구
허혜진,Hur, Hye Jin 한국음악치료교육학회 2010 인간행동과 음악연구 Vol.7 No.1
본 연구에서는 지역아동센터 아동의 또래 관계 기술 증진을 목표로 하는 창작 음악극 프로그램의 효과성을 검증하고자 또래 관계 기술의 하위요인과 관련한 단계별 목표로 구성된 음악극 만들기 프로그램을 K 지역아동센터 소속 아동 6명에게 10주간 주 2회 총 20회기 제공하였다. 대상자의 또래 관계 기술에 대한 변화를 알아보고자 프로그램 실시 전후에 대상아동과 기관 담당교사에게 각각 또래 관계 기술 척도와 수정된 사회적 기술 척도(교사용)를 실시하였다. 또한 세션 회기별 아동의 음악적 언어적 반응에 대한 기록 자료를 바탕으로 또래 관계 기술의 하위요인에 따라 범주화하여 제시하였다. 대상 아동들이 기록한 또래 관계 기술 척도 및 하위요인인 주도성과 공감/협동 요인의 평균 점수에서 상승을 나타냈으며 통계적으로 유의미하였다(p < .05). 기관 아동복지교사에 의해 작성된 사회적 기술 척도의 사전 사후 검사 점수와 하위 요인인 협력, 자아통제와 자아주장 요인의 평균 점수 모두 상승되었다. 세션 관찰 분석 결과에서는, 초반에 나타나던 비주도성, 자기주장성 결여, 비공감, 비협동 등의 부정적 요인이 세션의 진행에 따라 점차 긍정적인 요인으로 변화된 것으로 나타났다. 따라서 창작 음악극 프로그램은 지역아동센터 아동의 또래 관계기술을 증진시키는 데 효과적인 중재도구임을 시사한다고 볼 수 있다. The purpose of this study was to examine how a creative musical play program affected peer relational skills of children in a community child center. The creative musical play program was implemented with six children in K Community Child Center for twenty (20) sessions. To investigate quantitative change, the Peer Relational Skills Scale and the Revised Social Skills Scale (for teachers) were filled out by children and teachers before and after the program. Also, to investigate musical and behavior changes related with peer relational skills in the creative musical program, the responses of children were categorized from the data of the children's responses according to previously identified sub-factors of peer relational skills. The results show that the participants' average scores presented an improvement in peer relational skills. Qualitative analysis of session logs presented that negative factors which had appeared in early sessions changed to positive traits as the sessions went on. In conclusion, the creative musical play program was effective in increasing peer relational skills of children in the community child center.