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        Genome-wide association study of Crohn's disease in Koreans revealed three new susceptibility loci and common attributes of genetic susceptibility across ethnic populations

        Yang, Suk-Kyun,Hong, Myunghee,Zhao, Wanting,Jung, Yusun,Baek, Jiwon,Tayebi, Naeimeh,Kim, Kyung Mo,Ye, Byong Duk,Kim, Kyung-Jo,Park, Sang Hyoung,Lee, Inchul,Lee, Eun-Ju,Kim, Won Ho,Cheon, Jae Hee,Kim, BMJ Publishing Group Ltd 2014 Gut Vol.63 No.1

        <P><B>Objective</B></P><P>Crohn's disease (CD) is an intractable inflammatory bowel disease (IBD) of unknown cause. Recent meta-analysis of the genome-wide association studies (GWAS) and Immunochip data identified 163 susceptibility loci to IBD in Caucasians, however there are limited studies in other populations.</P><P><B>Methods</B></P><P>We performed a GWAS and two validation studies in the Korean population comprising a total of 2311 patients with CD and 2442 controls.</P><P><B>Results</B></P><P>We confirmed four previously reported loci: <I>TNFSF15</I>, <I>IL23R</I>, the major histocompatibility complex region, and the <I>RNASET2-FGFR1OP-CCR6</I> region. We identified three new susceptibility loci at genome-wide significance: rs6856616 at 4p14 (OR=1.43, combined p=3.60×10<SUP>−14</SUP>), rs11195128 at 10q25 (OR=1.42, combined p=1.55×10<SUP>−10</SUP>) and rs11235667 at 11q13 (OR=1.46, combined p=7.15×10<SUP>−9</SUP>), implicating <I>ATG16L2</I> and/or <I>FCHSD2</I> as novel susceptibility genes for CD. Further analysis of the 11q13 locus revealed a non-synonymous single nucleotide polymorphism (SNP) (R220W/rs11235604) in the evolutionarily conserved region of <I>ATG16L2</I> with stronger association (OR=1.61, combined p=2.44×10<SUP>−12</SUP>) than rs11235667, suggesting <I>ATG16L2</I> as a novel susceptibility gene for CD and rs11235604 to be a potential causal variant of the association. Two of the three SNPs (rs6856616 (p=0.00024) and rs11195128 (p=5.32×10<SUP>−5</SUP>)) showed consistent patterns of association in the International IBD Genetics Consortium dataset. Together, the novel and replicated loci accounted for 5.31% of the total genetic variance for CD risk in Koreans.</P><P><B>Conclusions</B></P><P>Our study provides new biological insight to CD and supports the complementary value of genetic studies in different populations.</P>

      • 과학기술인력의 연구 환경 진단과 대응

        홍성민(Seong-Min Hong),성경모(Kyung-Mo Sung),박기범(Kibeom Park),조가원(Ka-won Cho),엄미정(Mi-Jung Um),손경현(Kyoung-hyun Son),오진숙(Jinsook Oh),정미나(Mina Jung),김소영(Soyoung Kim),김유선(Yusun Kim) 과학기술정책연구원 2016 정책연구 Vol.- No.-

        In this study, systematic comprehensive diagnosis of the micro-research environment faced by researchers of government-funded research institutes was conducted. For this purpose, we constructed a research environment analysis framework for creating superior research results and conducted quantitative and qualitative analysis through questionnaires and interview surveys. Based on the results of questionnaires conducted on 548 researchers who work in 26 government-funded research institutes in science and technology fields, the analysis of the influential factors on quantitative and qualitative research results was analyzed using OLS and ordered logit model. And we conducted a semantic network analysis on the results of the interviews conducted on the researchers working in three types of technical fields such as basic, public and industrial technology. The main results of the study are as follows. First, when pursuing quantitative achievements such as papers and patents, the existence of a research team who will continue to study core research topics is a key factor. Second, in order to create representative performance such as researcher growth and creative ideas among the representative achievements that are recognized to reflect excellent performance in quality, it was important to increase the R & D process and support level among research environment factors. Third, variables such as research autonomy and research commitment do not largely affect the evaluation of representative performance reflecting qualitative performance as well as quantitative research performance, so additional in-depth analysis is needed. Fourth, it can be interpreted that the level of operation or the human resources management in the government-funded research institutes is not able to mobilize the researchers or obstruct the researchers in the direction of giving excellent research results. Based on the results of this analysis, the main policy directions for improving the research environment are as follows. First, based on detailed comprehensive diagnosis, it is necessary to plan and promote the research activity reform policy throughout the institutional operation process, research and development process, human resources and career development process of government–funded research institutes. Secondly, it is necessary to implement strategies that can enhance the creativity of researchers in the whole system ranging from R & D planning to evaluation. Especially it is important to establish mid and long term evaluation system for individual and institution and to improve autonomy to secure excellent talent. Third, in the case of human resources and career development process, it is most urgent to link with R & D activities and achievements. Finally, it is urgent to eliminate factors that inhibit creative research results based on the improvement of diversity and autonomy in the institutional management process of government - funded research institutes. To this end, it is necessary to overhaul the uniform evaluation system of government-funded research institutes.

      • KCI등재

        Health-related Quality of Life Outcomes of Adalimumab for Patients With Rheumatoid Arthritis in Korea

        ( Myeung-su Lee ),( Chang Hoon Lee ),( Hye Soon Lee ),( Yoon-kyoung Sung ),( Jung Ran Choi ),( Kyungsu Park ),( Mi-kyoung Lim ),( Byoong Yong Choi ),( Hyoun-ah Kim ),( Seung Won Choi ),( Yusun Lee ),( 대한류마티스학회 2021 대한류마티스학회지 Vol.28 No.2

        Objective. Rheumatoid arthritis (RA) is a chronic, progressive, autoimmune disorder that impairs patients’ overall health-related quality of life (HRQOL). In this study, we evaluated the effect of adalimumab in Korean patients with active RA on HRQOL. Methods. Patients included in the study had moderate to severe active RA that did not respond to conventional drugs with a Disease Activity Score of 28 joints >3.2 and were biologics-naïve. All patients received adalimumab 40 mg subcutaneously every other week and were followed for 24 weeks. The primary endpoint was the change in baseline Health Assessment Questionnaire Disability Index (HAQ-DI) score at week 24. Secondary endpoints were changes in the EuroQol 5-dimension 3-Level (EQ-5D-3L) baseline score and Short Form 36-Item Health Survey (SF-36) domain scores at weeks 12 and 24 and change in baseline HAQ-DI score at week 12. Results. In total, 91 Korean patients were included. Ninety-three percent of patients were in high disease activity with a baseline mean DAS28 value of 6.1 within all patients. The mean change from baseline in HAQ-DI scores were -0.46 at week 12 and∼0.67 at week 24 (p<0.0001). Additionally, EQ-5D-3L score at weeks 12 and 24 had significantly improved (p<0.0001) compared to baseline. SF-36 at weeks 12 and 24 had significantly improved (p<0.0001, p=0.0001) compared to baseline. Conclusion. Treatment with adalimumab resulted in significant improvement in HAQ-DI, EQ-5D-3L, and SF-36 scores at 12 and 24 weeks in Korean RA patient. (J Rheum Dis 2021;28:68-75)

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