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5. Genetic determinants of obesity in Korean populations: exploring genome-wide associations and polygenic risk scores.

Author

Jo, Jinyeon, Ha, Nayoung, Ji, Yunmi, Do, Ahra, Seo, Je Hyun, Oh, Bumjo, Choi, Sungkyoung, Choe, Eun Kyung, Lee, Woojoo, Son, Jang Won, and Won, Sungho

Subjects
EAST Asians, GENOME-wide association studies, KOREANS, BODY mass index, ABDOMINAL adipose tissue
Abstract

East Asian populations exhibit a genetic predisposition to obesity, yet comprehensive research on these traits is limited. We conducted a genome-wide association study (GWAS) with 93,673 Korean subjects to uncover novel genetic loci linked to obesity, examining metrics such as body mass index, waist circumference, body fat ratio, and abdominal fat ratio. Participants were categorized into non-obese, metabolically healthy obese (MHO), and metabolically unhealthy obese (MUO) groups. Using advanced computational methods, we developed a multifaceted polygenic risk scores (PRS) model to predict obesity. Our GWAS identified significant genetic effects with distinct sizes and directions within the MHO and MUO groups compared with the non-obese group. Gene-based and gene-set analyses, along with cluster analysis, revealed heterogeneous patterns of significant genes on chromosomes 3 (MUO group) and 11 (MHO group). In analyses targeting genetic predisposition differences based on metabolic health, odds ratios of high PRS compared with medium PRS showed significant differences between non-obese and MUO, and non-obese and MHO. Similar patterns were seen for low PRS compared with medium PRS. These findings were supported by the estimated genetic correlation (0.89 from bivariate GREML). Regional analyses highlighted significant local genetic correlations on chromosome 11, while single variant approaches suggested widespread pleiotropic effects, especially on chromosome 11. In conclusion, our study identifies specific genetic loci and risks associated with obesity in the Korean population, emphasizing the heterogeneous genetic factors contributing to MHO and MUO. [ABSTRACT FROM AUTHOR]

Published
2024
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6. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Author

Jun, Goo, Manning, Alisa, Almeida, Marcio, Zawistowski, Matthew, Wood, Andrew R, Teslovich, Tanya M, Fuchsberger, Christian, Feng, Shuang, Cingolani, Pablo, Gaulton, Kyle J, Dyer, Thomas, Blackwell, Thomas W, Chen, Han, Chines, Peter S, Choi, Sungkyoung, Churchhouse, Claire, Fontanillas, Pierre, King, Ryan, Lee, SungYoung, Lincoln, Stephen E, Trubetskoy, Vasily, DePristo, Mark, Fingerlin, Tasha, Grossman, Robert, Grundstad, Jason, Heath, Alison, Kim, Jayoun, Kim, Young Jin, Laramie, Jason, Lee, Jaehoon, Li, Heng, Liu, Xuanyao, Livne, Oren, Locke, Adam E, Maller, Julian, Mazur, Alexander, Morris, Andrew P, Pollin, Toni I, Ragona, Derek, Reich, David, Rivas, Manuel A, Scott, Laura J, Sim, Xueling, Tearle, Rick G, Teo, Yik Ying, Williams, Amy L, Zöllner, Sebastian, Curran, Joanne E, Peralta, Juan, Akolkar, Beena, Bell, Graeme I, Burtt, Noël P, Cox, Nancy J, Florez, Jose C, Hanis, Craig L, McKeon, Catherine, Mohlke, Karen L, Seielstad, Mark, Wilson, James G, Atzmon, Gil, Below, Jennifer E, Dupuis, Josée, Nicolae, Dan L, Lehman, Donna, Park, Taesung, Won, Sungho, Sladek, Robert, Altshuler, David, McCarthy, Mark I, Duggirala, Ravindranath, Boehnke, Michael, Frayling, Timothy M, Abecasis, Gonçalo R, and Blangero, John

Subjects
Diabetes, Genetics, Human Genome, Clinical Research, Obesity, Genetic Testing, 2.1 Biological and endogenous factors, Aetiology, Metabolic and endocrine, Diabetes Mellitus, Type 2, Family Health, Female, Gene Frequency, Genetic Predisposition to Disease, Genetic Variation, Genome-Wide Association Study, Genotype, Humans, Male, Mexican Americans, Pedigree, Phenotype, Quantitative Trait Loci, Whole Genome Sequencing, genetics, sequencing, type 2 diabetes, eQTL, rare variants
Abstract

A major challenge in evaluating the contribution of rare variants to complex disease is identifying enough copies of the rare alleles to permit informative statistical analysis. To investigate the contribution of rare variants to the risk of type 2 diabetes (T2D) and related traits, we performed deep whole-genome analysis of 1,034 members of 20 large Mexican-American families with high prevalence of T2D. If rare variants of large effect accounted for much of the diabetes risk in these families, our experiment was powered to detect association. Using gene expression data on 21,677 transcripts for 643 pedigree members, we identified evidence for large-effect rare-variant cis-expression quantitative trait loci that could not be detected in population studies, validating our approach. However, we did not identify any rare variants of large effect associated with T2D, or the related traits of fasting glucose and insulin, suggesting that large-effect rare variants account for only a modest fraction of the genetic risk of these traits in this sample of families. Reliable identification of large-effect rare variants will require larger samples of extended pedigrees or different study designs that further enrich for such variants.

Published
2018

13. What are the key factors influencing newly graduated nurses' preference for choosing their workplace? A best–worst scaling approach.

Author

Min, Ari, Baek, Wonhee, and Choi, Sungkyoung

Subjects
WORK environment, NURSES' attitudes, CROSS-sectional method, PROFESSIONAL employee training, EMPLOYEE promotions, EMPLOYEE recruitment, GRADUATES, SURVEYS, JOB satisfaction, QUESTIONNAIRES, WAGES, RESEARCH funding, CORPORATE culture, EMPLOYEE retention
Abstract

Introduction: The literature cites many factors that influence a nurse's decision when choosing their workplace. However, it is unclear which attributes matter the most to newly graduated nurses. The study aimed to identify the relative importance of workplace preference attributes among newly graduated nurses. Design: A cross‐sectional study. Methods: We conducted an online survey and data were collected in June 2022. A total of 1111 newly graduated nurses in South Korea participated. The study employed best–worst scaling to quantify the relative importance of nine workplace preferences and also included questions about participants' willingness to pay for each workplace preferences. The relationships between the relative importance of the workplace attribute and the willingness to pay were determined using a quadrant analysis. Results: The order according to the relative importance of workplace preferences is as follows: salary, working conditions, organizational climate, welfare program, hospital location, hospital level, hospital reputation, professional development, and the chance of promotion. The most important factor, salary, was 16.67 times more important than the least important factor, the chance of promotion, in terms of choosing workplace. In addition, working conditions and organizational climate were recognized as high economic value indicators. Conclusion: Newly graduated nurses nominated better salaries, working conditions, and organizational climate as having a more important role in choosing their workplace. Clinical Relevance: The findings of this study have important implications for institutions and administrators in recruiting and retaining newly graduated nurses. [ABSTRACT FROM AUTHOR]

Published
2023
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29. Determinants of Legislation on Social Health Insurance in Transition Countries.

Author

Choi, Sungkyoung, Sohn, Myongsei, Jeong, Hyoung-Sun, and Kim, Soyoon

Subjects
SOCIAL security laws, HEALTH insurance laws, HEALTH status indicators, HEALTH care reform, COMPARATIVE studies, DESCRIPTIVE statistics, DEVELOPING countries, POLICY sciences, DATA analysis software
Abstract

This study aims to address the question: Why did transition countries enact laws related to social health insurance (SHI) at different times, even though they experienced dissolution of the Soviet Union at the same time in the early 1990s? We used Ragin's fuzzy-set qualitative comparative analysis to investigate the configurations of causal conditions that affected the speed of developing SHI-related legislation in 24 post-socialist countries. The potential causal conditions were health status, economic status, level of governance, level of democracy, issue salience, and number of medical professionals. We found 3 pathways that led to the enactment of SHI-related laws and 1 pathway that inhibits enactment. The key factors impacting enactment of SHI-related laws were non-corrupt governments and realization of democracy. In addition, medical professionals' involvement in policymaking could be the factor to enact SHI-related laws. Further research is needed for more in-depth analysis regarding what the laws specifically include, type of health insurance systems that were adopted based on the laws, and if the legislation contributed toward achieving universal health coverage. [ABSTRACT FROM AUTHOR]

Published
2022
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32. Development and validation of a scoring system for advanced colorectal neoplasm in young Korean subjects less than age 50 years

Author

Kim, Ji Yeon, primary, Choi, Sungkyoung, additional, Park, Taesung, additional, Kim, Seul Ki, additional, Jung, Yoon Suk, additional, Park, Jung Ho, additional, Kim, Hong Joo, additional, Cho, Yong Kyun, additional, Sohn, Chong Il, additional, Jeon, Woo Kyu, additional, Kim, Byung Ik, additional, Choi, Kyu Yong, additional, and Park, Dong Il, additional

Published
2019
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33. Longitudinal analysis to better characterize Asthma‐COPD overlap syndrome: Findings from an adult asthma cohort in Korea (COREA)

Author

Park, So‐Young, primary, Jung, Heewon, additional, Kim, Jung‐Hyun, additional, Seo, Bomi, additional, Kwon, Oh Young, additional, Choi, Sungkyoung, additional, Oh, Bermseok, additional, Kwon, Hyouk‐Soo, additional, Cho, You Sook, additional, Moon, Hee‐Bom, additional, Won, Sungho, additional, Park, Taesung, additional, and Kim, Tae‐Bum, additional

Published
2019
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38. Nonsynonymous Variants in PAX4 and GLP1R Are Associated With Type 2 Diabetes in an East Asian Population

Author

Kwak, Soo Heon, primary, Chae, Jeesoo, additional, Lee, Seungbok, additional, Choi, Sungkyoung, additional, Koo, Bo Kyung, additional, Yoon, Ji Won, additional, Park, Jin-Ho, additional, Cho, Belong, additional, Moon, Min Kyong, additional, Lim, Soo, additional, Cho, Young Min, additional, Moon, Sanghoon, additional, Kim, Young Jin, additional, Han, Sohee, additional, Hwang, Mi Yeong, additional, Cho, Yoon Shin, additional, Lee, Myung-Shik, additional, Jang, Hak C., additional, Kang, Hyun Min, additional, Park, Taesung, additional, Cho, Nam H., additional, Kim, Kyunga, additional, Kim, Jong-Il, additional, and Park, Kyong Soo, additional

Published
2018
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42. Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees

Author

Jun, Goo, primary, Manning, Alisa, additional, Almeida, Marcio, additional, Zawistowski, Matthew, additional, Wood, Andrew R., additional, Teslovich, Tanya M., additional, Fuchsberger, Christian, additional, Feng, Shuang, additional, Cingolani, Pablo, additional, Gaulton, Kyle J., additional, Dyer, Thomas, additional, Blackwell, Thomas W., additional, Chen, Han, additional, Chines, Peter S., additional, Choi, Sungkyoung, additional, Churchhouse, Claire, additional, Fontanillas, Pierre, additional, King, Ryan, additional, Lee, SungYoung, additional, Lincoln, Stephen E., additional, Trubetskoy, Vasily, additional, DePristo, Mark, additional, Fingerlin, Tasha, additional, Grossman, Robert, additional, Grundstad, Jason, additional, Heath, Alison, additional, Kim, Jayoun, additional, Kim, Young Jin, additional, Laramie, Jason, additional, Lee, Jaehoon, additional, Li, Heng, additional, Liu, Xuanyao, additional, Livne, Oren, additional, Locke, Adam E., additional, Maller, Julian, additional, Mazur, Alexander, additional, Morris, Andrew P., additional, Pollin, Toni I., additional, Ragona, Derek, additional, Reich, David, additional, Rivas, Manuel A., additional, Scott, Laura J., additional, Sim, Xueling, additional, Tearle, Rick G., additional, Teo, Yik Ying, additional, Williams, Amy L., additional, Zöllner, Sebastian, additional, Curran, Joanne E., additional, Peralta, Juan, additional, Akolkar, Beena, additional, Bell, Graeme I., additional, Burtt, Noël P., additional, Cox, Nancy J., additional, Florez, Jose C., additional, Hanis, Craig L., additional, McKeon, Catherine, additional, Mohlke, Karen L., additional, Seielstad, Mark, additional, Wilson, James G., additional, Atzmon, Gil, additional, Below, Jennifer E., additional, Dupuis, Josée, additional, Nicolae, Dan L., additional, Lehman, Donna, additional, Park, Taesung, additional, Won, Sungho, additional, Sladek, Robert, additional, Altshuler, David, additional, McCarthy, Mark I., additional, Duggirala, Ravindranath, additional, Boehnke, Michael, additional, Frayling, Timothy M., additional, Abecasis, Gonçalo R., additional, and Blangero, John, additional

Published
2017
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43. Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

Author

Horikoshi, Momoko, Pasquali, Lorenzo, Wiltshire, Steven, Huyghe, Jeroen R, Mahajan, Anubha, Asimit, Jennifer L, Ferreira, Teresa, Locke, Adam E, Robertson, Neil R, Wang, Xu, Sim, Xueling, Fujita, Hayato, Hara, Kazuo, Young, Robin, Zhang, Weihua, Choi, Sungkyoung, Chen, Han, Kaur, Ismeet, Takeuchi, Fumihiko, Fontanillas, Pierre, Thuillier, Dorothée, Yengo, Loic, Below, Jennifer E, Tam, Claudia HT, Wu, Ying, Abecasis, Gonçalo, Altshuler, David, Bell, Graeme I, Blangero, John, Burtt, Noél P, Duggirala, Ravindranath, Florez, Jose C, Hanis, Craig L, Seielstad, Mark, Atzmon, Gil, Chan, Juliana CN, Ma, Ronald CW, Froguel, Philippe, Wilson, James G, Bharadwaj, Dwaipayan, Dupuis, Josee, Meigs, James B, Cho, Yoon Shin, Park, Taesung, Kooner, Jaspal S, Chambers, John C, Saleheen, Danish, Kadowaki, Takashi, Tai, E Shyong, Mohlke, Karen L, Cox, Nancy J, Ferrer, Jorge, Zeggini, Eleftheria, Kato, Norihiro, Teo, Yik Ying, Boehnke, Michael, McCarthy, Mark I, Morris, Andrew P, T2D-GENES Consortium, Asimit, Jennifer [0000-0002-4857-2249], and Apollo - University of Cambridge Repository

Subjects
Male, tRNA Methyltransferases, Chromosome Mapping, RNA-Binding Proteins, Polymorphism, Single Nucleotide, Linkage Disequilibrium, White People, Black or African American, Asian People, Diabetes Mellitus, Type 2, KCNQ1 Potassium Channel, Cyclin-Dependent Kinase Inhibitor p18, Humans, Female, Genetic Predisposition to Disease, Regulatory Elements, Transcriptional, Alleles, Cyclin-Dependent Kinase Inhibitor p16, Genetic Association Studies
Abstract

To gain insight into potential regulatory mechanisms through which the effects of variants at four established type 2 diabetes (T2D) susceptibility loci (CDKAL1, CDKN2A-B, IGF2BP2 and KCNQ1) are mediated, we undertook transancestral fine-mapping in 22 086 cases and 42 539 controls of East Asian, European, South Asian, African American and Mexican American descent. Through high-density imputation and conditional analyses, we identified seven distinct association signals at these four loci, each with allelic effects on T2D susceptibility that were homogenous across ancestry groups. By leveraging differences in the structure of linkage disequilibrium between diverse populations, and increased sample size, we localised the variants most likely to drive each distinct association signal. We demonstrated that integration of these genetic fine-mapping data with genomic annotation can highlight potential causal regulatory elements in T2D-relevant tissues. These analyses provide insight into the mechanisms through which T2D association signals are mediated, and suggest future routes to understanding the biology of specific disease susceptibility loci.

Published
2016

45. Longitudinal analysis to better characterize Asthma‐COPD overlap syndrome: Findings from an adult asthma cohort in Korea (COREA).

Author

Kwon, Oh Young, Kwon, Hyouk‐Soo, Cho, You Sook, Moon, Hee‐Bom, Kim, Tae‐Bum, Park, So‐Young, Jung, Heewon, Kim, Jung‐Hyun, Seo, Bomi, Choi, Sungkyoung, Oh, Bermseok, Won, Sungho, and Park, Taesung

Subjects
SINGLE nucleotide polymorphisms, PULMONARY function tests, ASTHMA, LUNG diseases, ASTHMATICS
Abstract

Summary: Background: Asthma‐chronic obstructive pulmonary disease (COPD) overlap syndrome (ACOS), which has received much attention, has not been unanimously defined. Objective: In this study, we tried to demonstrate that longitudinally defined ACOS is more useful in the real world than blending patients with asthma and COPD. Methods: The study patients had undergone two consecutive pulmonary function tests measured at least 3 months apart (n = 1889). We selected the patients who had positive bronchodilator response or methacholine provocation tests (n = 959). Next, we defined ACOS as a patient with a persistent airflow obstruction [forced expiratory volume in 1 second (FEV1)/forced vital capacity <0.7] that was identified twice consecutively by an interval of at least 3 months (n = 228). Results: The proportions of patients who were older, male and smokers were significantly higher, and baseline lung function was lower in patients with ACOS. In the longitudinal analysis, the mean change in lung function was high, and a greater decline in FEV1 was observed in patients with ACOS. In addition, we compared ACOS and severe asthma, and we also performed a cluster analysis and compared the results with our definition of ACOS. According to our definition, ACOS is an independent subtype with distinctive characteristics. Finally, a genome‐wide association study (GWAS) was performed to identify genetic variations associated with ACOS, but no significant single nucleotide polymorphisms were identified. Conclusion: Our findings suggest that ACOS should be defined longitudinally and considered as an independent subgroup distinguished by inherited environmental factors rather than as a genetically distinct independent group. [ABSTRACT FROM AUTHOR]

Published
2019
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49. Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms

Author

Horikoshi, Momoko, primary, Pasquali, Lorenzo, additional, Wiltshire, Steven, additional, Huyghe, Jeroen R., additional, Mahajan, Anubha, additional, Asimit, Jennifer L., additional, Ferreira, Teresa, additional, Locke, Adam E., additional, Robertson, Neil R., additional, Wang, Xu, additional, Sim, Xueling, additional, Fujita, Hayato, additional, Hara, Kazuo, additional, Young, Robin, additional, Zhang, Weihua, additional, Choi, Sungkyoung, additional, Chen, Han, additional, Kaur, Ismeet, additional, Takeuchi, Fumihiko, additional, Fontanillas, Pierre, additional, Thuillier, Dorothée, additional, Yengo, Loic, additional, Below, Jennifer E., additional, Tam, Claudia H.T., additional, Wu, Ying, additional, Abecasis, Gonçalo, additional, Altshuler, David, additional, Bell, Graeme I., additional, Blangero, John, additional, Burtt, Noél P., additional, Duggirala, Ravindranath, additional, Florez, Jose C., additional, Hanis, Craig L., additional, Seielstad, Mark, additional, Atzmon, Gil, additional, Chan, Juliana C.N., additional, Ma, Ronald C.W., additional, Froguel, Philippe, additional, Wilson, James G., additional, Bharadwaj, Dwaipayan, additional, Dupuis, Josee, additional, Meigs, James B., additional, Cho, Yoon Shin, additional, Park, Taesung, additional, Kooner, Jaspal S., additional, Chambers, John C., additional, Saleheen, Danish, additional, Kadowaki, Takashi, additional, Tai, E. Shyong, additional, Mohlke, Karen L., additional, Cox, Nancy J., additional, Ferrer, Jorge, additional, Zeggini, Eleftheria, additional, Kato, Norihiro, additional, Teo, Yik Ying, additional, Boehnke, Michael, additional, McCarthy, Mark I., additional, and Morris, Andrew P., additional

Published
2016
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