서울대학교 보건대학원 유전체 & 건강 빅데이터 연구실Genome & Health Big Data Laboratory, Seoul National University

Um, Y. J., Kim, H., Sung, J., Um, Y. H., & Cho, S. I. (2025). Prevalence of prediabetes according to sleep apnea status. Primary care diabetes, 19(1), 61–65.

Han, S. W., Hwang, J., Park, T., Pyun, J. M., Lee, J. Y., Park, J. S., Bice, P. J., Liu, S., Yun, S., Jeong, J., Risacher, S. L., Saykin, A. J., Byun, M. S., Yi, D., Sung, J., Lee, D. Y., Kim, S., Nho, K., & Park, Y. H. (2025). Transcriptome analysis of early- and late-onset Alzheimer’s disease in Korean cohorts. Alzheimer’s & dementia : the journal of the Alzheimer’s Association, 21(2), e14563. 

Park, H. A., Sung, J., Chang, Y., Ryu, S., Yoon, K. J., Kim, H. L., & Kim, H. N. (2025). Metagenomic Analysis Identifies Sex-Related Gut Microbial Functions and Bacterial Taxa Associated With Skeletal Muscle Mass. Journal of cachexia, sarcopenia and muscle, 16(1), e13636.

Yoon, J. M., Gil, Y. J., Sung, J., Ham, D. I., & Kong, M. (2025). Genetic influence on choroidal vascularity index. PloS one, 20(1), e0318369.

Kim, H., Chung, J., Kang, J. W., Schellingerhout, D., Lee, S. J., Jang, H. J., Park, I., Kim, T., Gwak, D. S., Lee, J. S., Hong, S. H., Je, K. H., Bae, H. J., Sung, J., Lo, E. H., Faber, J., Ayata, C., & Kim, D. E. (2025). Inhibition of nitric oxide synthase transforms carotid occlusion-mediated benign oligemia into de novo large cerebral infarction. Theranostics, 15(2), 585–604.

Park, J. H., Lim, K. T., Lee, J., Gil, Y., & Sung, J. (2025). The Diabetogenic Effect of Statin Use May Interact With Polygenic Risk Scores for Type 2 Diabetes: Evidence From the UK Biobank. Journal of preventive medicine and public health = Yebang Uihakhoe chi, 58(1), 92–102. 

Shin, J., Lee, Y., Cho, S. I., Sung, J., Kim, S., Lee, S., Choi, I., Han, C., & You, M. (2025). Implication of findings from a two-wave survey on embitterment in South Korea for strategies to promote mental health of the general public. Psychological trauma : theory, research, practice and policy, 17(1), 196–206.

Li, S., Dite, G. S., MacInnis, R. J., Bui, M., Nguyen, T. L., Esser, V. F. C., Ye, Z., Dowty, J. G., Makalic, E., Sung, J., Giles, G. G., Southey, M. C., & Hopper, J. L. (2024). Causation and familial confounding as explanations for the associations of polygenic risk scores with breast cancer: Evidence from innovative ICE FALCON and ICE CRISTAL analyses. Genetic epidemiology, 48(8), 401–413.

Hopper, J. L., Li, S., MacInnis, R. J., Dowty, J. G., Nguyen, T. L., Bui, M., Dite, G. S., Esser, V. F. C., Ye, Z., Makalic, E., Schmidt, D. F., Goudey, B., Alpen, K., Kapuscinski, M., … Sung, J., … Jenkins, M. A. (2024). Breast and bowel cancers diagnosed in people ‘too young to have cancer’: A blueprint for research using family and twin studies. Genetic epidemiology, 48(8), 433–447.

Bahk, K., & Sung, J. (2024). SigAlign: an alignment algorithm guided by explicit similarity criteria. Nucleic acids research, 52(15), 8717–8733.

Bahk, K., Sung, J., Seki, M., Kim, K., Kim, J., Choi, H., Whang, J., & Mitarai, S. (2024). Pan-lineage Mycobacterium tuberculosis reference genome for enhanced molecular diagnosis. DNA research : an international journal for rapid publication of reports on genes and genomes, 31(4), dsae023.

Yoon, C. J., Nam, C. H., Kim, T., Lee, J. S., Kim, R., Yi, K., Koh, J. Y., Kim, J., Won, H., Oh, J. W., Griffith, O. L., Griffith, M., Sung, J., Kim, T. Y., Cho, D., Choi, J. S., & Ju, Y. S. (2024). Whole-genome sequences reveal zygotic composition in chimeric twins. HGG advances, 5(3), 100301.

Pyun, H., Gunathilake, M., Lee, J., Choi, I. J., Kim, Y. I., Sung, J., & Kim, J. (2024). Functional Annotation and Gene Set Analysis of Gastric Cancer Risk Loci in a Korean Population. Cancer research and treatment, 56(1), 191–198.

Ye, Z., Nguyen, T. L., Dite, G. S., MacInnis, R. J., Schmidt, D. F., Makalic, E., Al-Qershi, O. M., Bui, M., Esser, V. F. C., Dowty, J. G., Trinh, H. N., Evans, C. F., Tan, M., Sung, J., Jenkins, M. A., Giles, G. G., Southey, M. C., Hopper, J. L., & Li, S. (2023). Causal relationships between breast cancer risk factors based on mammographic features. Breast cancer research : BCR, 25(1), 127.

Hopper, J. L., Dowty, J. G., Nguyen, T. L., Li, S., Dite, G. S., MacInnis, R. J., Makalic, E., Schmidt, D. F., Bui, M., Stone, J., Sung, J., Jenkins, M. A., Giles, G. G., Southey, M. C., & Mathews, J. D. (2023). Variance of age-specific log incidence decomposition (VALID): a unifying model of measured and unmeasured genetic and non-genetic risks. International journal of epidemiology, 52(5), 1557–1568.

Lee, K. J., Kim, H., Lee, S. J., Duperron, M. G., Debette, S., Bae, H. J., & Sung, J. (2023). Causal Effect of the 25-Hydroxyvitamin D Concentration on Cerebral Small Vessel Disease: A Mendelian Randomization Study. Stroke, 54(9), 2338–2346.

Sung, J., & Hopper, J. L. (2023). Co-evolution of epidemiology and artificial intelligence: challenges and opportunities. International journal of epidemiology, 52(4), 969–973.

Cho, H. J., Okekunle, A. P., Yie, G. E., Youn, J., Kang, M., Jin, T., Sung, J., & Lee, J. E. (2023). Association of coffee consumption with type 2 diabetes and glycemic traits: a Mendelian randomization study. Nutrition research and practice, 17(4), 789–802.

You, H. J., Si, J., Kim, J., Yoon, S., Cha, K. H., Yoon, H. S., Lee, G., Yu, J., Choi, J. S., Jung, M., Kim, D. J., Lee, Y., Kim, M., Vázquez-Castellanos, J. F., Sung, J., Park, J. M., & Ko, G. (2023). Bacteroides vulgatus SNUG 40005 Restores Akkermansia Depletion by Metabolite Modulation. Gastroenterology, 164(1), 103–116.

Gil, Y. J., Park, J. H., & Sung, J. (2023). Discrete-time Survival Analysis of Risk Factors for Early Menarche in Korean Schoolgirls. Journal of preventive medicine and public health = Yebang Uihakhoe chi, 56(1), 59–66.

Jeong, Y., Cho, C. E., Kim, J. E., Lee, J., Kim, N., Jung, W. Y., Sung, J., Kim, J. H., Lee, Y. J., Jung, J., Pyo, J., Song, J., Park, J., Moon, K. M., & Ahn, S. (2022). Deep learning model to predict Epstein-Barr virus associated gastric cancer in histology. Scientific reports, 12(1), 18466.

Kim, M., Sung, J., Kim, J. K., Lee, H., Oh, J. J., Lee, S., Hong, S. K., & Byun, S. S. (2022). Multiple primary cancers in men with sporadic or familial prostate cancer: Its clinical implications. Urologic oncology, 40(11), 489.e1–489.e7.

Kang, G. W., Kim, Y. H., Hong, C., Woo, S., Sung, J., Song, Y. M., Shin, J. W., & Chae, H. S. (2022). Heritability of maxillary dental cephalometric variables among monozygotic twins, dizygotic twins and their siblings. Clinical oral investigations, 26(10), 6275–6281.

Jeong, Y., & Sung, J. (2022). An automated deep learning method and novel cardiac index to detect canine cardiomegaly from simple radiography. Scientific reports, 12(1), 14494.

Kim, H. J., Son, H. Y., Sung, J., Yun, J. M., Kwon, H., Cho, B., Kim, J. I., & Park, J. H. (2022). A Genome-Wide Association Study on Abdominal Adiposity-Related Traits in Adult Korean Men. Obesity facts, 15(4), 590–599.

Silventoinen, K., Piirtola, M., Jelenkovic, A., Sund, R., Tarnoki, A. D., Tarnoki, D. L., Medda, E., Nisticò, L., Toccaceli, V., Honda, C., Inui, F., Tomizawa, R., Watanabe, M., Sakai, N., Gatz, M., Butler, D. A., Lee, J., Lee, S. J., Sung, J., Franz, C. E., … Kaprio, J. (2022). Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts. Scientific reports, 12(1), 13148.

Lee, E. J., Sung, J., Kim, H. L., & Kim, H. N. (2022). Whole-Genome Sequencing Reveals Age-Specific Changes in the Human Blood Microbiota. Journal of personalized medicine, 12(6), 939.

Li, S., Nguyen, T. L., Nguyen-Dumont, T., Dowty, J. G., Dite, G. S., Ye, Z., Trinh, H. N., Evans, C. F., Tan, M., Sung, J., Jenkins, M. A., Giles, G. G., Hopper, J. L., & Southey, M. C. (2022). Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk. Cancers, 14(11), 2767.

Kim, Y. S., Kang, M., Choe, Y. J., Sung, J., Lee, J. Y., & Choe, S. A. (2022). Child mortality of twins and singletons among late preterm and term birth: a study of national linked birth and under-five mortality data of Korea. European journal of pediatrics, 181(5), 2109–2116. 

Nguyen, T. L., Li, S., Dowty, J. G., Dite, G. S., Ye, Z., Nguyen-Dumont, T., Trinh, H. N., Evans, C. F., Tan, M., Sung, J., Jenkins, M. A., Giles, G. G., Southey, M. C., & Hopper, J. L. (2022). Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk. Cancers, 14(6), 1483.

Lee, K. J., Lee, S. J., Bae, H. J., & Sung, J. (2022). Exploring the causal inference of migraine on stroke: A Mendelian randomization study. European journal of neurology, 29(1), 335–338.

Park, H. M., Kim, P. J., Sung, J., Song, Y. M., Kim, H. G., Kim, Y. H., & Baek, S. H. (2021). Differences in the heritability of craniofacial skeletal and dental characteristics between twin pairs with skeletal Class I and II malocclusions. Korean journal of orthodontics, 51(6), 407–418.

Kim, H., Bae, J. H., Park, K. S., Sung, J., & Kwak, S. H. (2021). DNA Methylation Changes Associated With Type 2 Diabetes and Diabetic Kidney Disease in an East Asian Population. The Journal of clinical endocrinology and metabolism, 106(10), e3837–e3851.

Zwir, I., Del-Val, C., Arnedo, J., Pulkki-Råback, L., Konte, B., Yang, S. S., Romero-Zaliz, R., Hintsanen, M., Cloninger, K. M., Garcia, D., Svrakic, D. M., Lester, N., Rozsa, S., Mesa, A., Lyytikäinen, L. P., Giegling, I., Kähönen, M., Martinez, M., Seppälä, I., Raitoharju, E., … Sung, J., … Cloninger, C. R. (2021). Three genetic-environmental networks for human personality. Molecular psychiatry, 26(8), 3858–3875.

Kong, M., Hwang, S., Ko, H., Lee, G. I., Kang, M., Sung, J., Song, Y. M., & Ham, D. I. (2021). Heritability of macular ganglion cell inner plexiform layer thickness as determined by optical coherence tomography: the Healthy Twin Study. The British journal of ophthalmology, 105(7), 1011–1015.

Nguyen, T. L., Schmidt, D. F., Makalic, E., Maskarinec, G., Li, S., Dite, G. S., Aung, Y. K., Evans, C. F., Trinh, H. N., Baglietto, L., Stone, J., Song, Y. M., Sung, J., MacInnis, R. J., Dugué, P. A., Dowty, J. G., Jenkins, M. A., Milne, R. L., Southey, M. C., Giles, G. G., … Hopper, J. L. (2021). Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure. International journal of cancer, 148(9), 2193–2202.

Jokkel, Z., Forgo, B., Hani-Gaius Ghattas, C., Piroska, M., Szabó, H., Tarnoki, D. L., Tarnoki, A. D., Lee, S. J., & Sung, J. (2021). Heritability of Cardiothoracic Ratio and Aortic Arch Calcification in Twins. Medicina (Kaunas, Lithuania), 57(5), 421.

Seki, M., Choi, H., Kim, K., Whang, J., Sung, J., & Mitarai, S. (2021). Tuberculosis: A persistent unpleasant neighbour of humans. Journal of infection and public health, 14(4), 508–513.

Kim, H., Choe, S. A., Lee, S. J., & Sung, J. (2021). Causal relationship between the timing of menarche and young adult body mass index with consideration to a trend of consistently decreasing age at menarche. PloS one, 16(2), e0247757.

Cho, J., Park, K., Choi, S. M., Lee, J., Lee, C. H., Lee, J. K., Heo, E. Y., Kim, D. K., Lee, Y. J., Park, J. S., Cho, Y. J., Yoon, H. I., Lee, J. H., Lee, C. T., Kim, N., Choi, K. Y., Lee, K. H., Sung, J., Won, S., & Yim, J. J. (2021). Genome-wide association study of non-tuberculous mycobacterial pulmonary disease. Thorax, 76(2), 169–177.

Joo Kang, S., Shin, C. M., Sung, J., & Kim, N. (2021). Association Between ALDH2 Polymorphism and Gastric Cancer Risk in Terms of Alcohol Consumption: A Meta-Analysis. Alcoholism, clinical and experimental research, 45(1), 6–14.

Kim, J. H., Kim, Y. H., Kim, S. J., Sung, J., Song, Y. M., Shin, J. W., Park, J. H., & Chae, H. S. (2020). Twin study-genetic comparison of matrix versus intramatrix rotation in the mandible and three different occlusal planes. Progress in orthodontics, 21(1), 44.

Kim, J., Sung, J., Han, K., Lee, W., Mun, S., Lee, J., Bahk, K., Yang, I., Bae, Y. K., Kim, C., Kim, J. I., & Seo, J. S. (2020). A High Quality Asian Genome Assembly Identifies Features of Common Missing Regions. Genes, 11(11), 1350.

Song, D. Y., Youn, J., Kim, K., Sung, J., & Lee, J. E. (2020). Urinary Sodium and Potassium Levels and Blood Pressure in Population with High Sodium Intake. Nutrients, 12(11), 3442.

Li, S., Nguyen, T. L., Wong, E. M., Dugué, P. A., Dite, G. S., Armstrong, N. J., Craig, J. M., Mather, K. A., Sachdev, P. S., Saffery, R., Sung, J., Tan, Q., Thalamuthu, A., Milne, R. L., Giles, G. G., Southey, M. C., & Hopper, J. L. (2020). Genetic and environmental causes of variation in epigenetic aging across the lifespan. Clinical epigenetics, 12(1), 158.

Kho, M., Smith, J. A., Verweij, N., Shang, L., Ryan, K. A., Zhao, W., Ware, E. B., Gansevoort, R. T., Irvin, M. R., Lee, J. E., Turner, S. T., Sung, J., van der Harst, P., Arnett, D. K., Baylin, A., Park, S. K., … Kardia, S. L. R. (2020). Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies Suggestive Loci for Sodium Intake, Potassium Intake, and Their Ratio Measured from 24-Hour or Half-Day Urine Samples. The Journal of nutrition, 150(10), 2635–2645.

Zwir, I., Arnedo, J., Del-Val, C., Pulkki-Råback, L., Konte, B., Yang, S. S., Romero-Zaliz, R., Hintsanen, M., Cloninger, K. M., Garcia, D., Svrakic, D. M., Rozsa, S., Martinez, M., Lyytikäinen, L. P., Giegling, I., Kähönen, M., Hernandez-Cuervo, H., Seppälä, I., Raitoharju, E., de Erausquin, G. A., … Sung, J., … Cloninger, C. R. (2020). Uncovering the complex genetics of human character. Molecular psychiatry, 25(10), 2295–2312.

Zwir, I., Arnedo, J., Del-Val, C., Pulkki-Råback, L., Konte, B., Yang, S. S., Romero-Zaliz, R., Hintsanen, M., Cloninger, K. M., Garcia, D., Svrakic, D. M., Rozsa, S., Martinez, M., Lyytikäinen, L. P., Giegling, I., Kähönen, M., Hernandez-Cuervo, H., Seppälä, I., Raitoharju, E., de Erausquin, G. A., …  Sung, J., … Cloninger, C. R. (2020). Uncovering the complex genetics of human temperament. Molecular psychiatry, 25(10), 2275–2294.

Gharipour, M., Barekatain, M., Sung, J., Emami, N., Sadeghian, L., Dianatkhah, M., Sarrafzadegan, N., & Jahanfar, S. (2020). The Epigenetic Overlap between Obesity and Mood Disorders: A Systematic Review. International journal of molecular sciences, 21(18), 6758.

Kim, J., Lee, J., Choi, I. J., Kim, Y. I., Sung, J., & Kim, J. (2020). TNF genetic polymorphism (rs1799964) may modify the effect of the dietary inflammatory index on gastric cancer in a case-control study. Scientific reports, 10(1), 14590.

Meszaros, M., Tarnoki, A. D., Tarnoki, D. L., Kovacs, D. T., Forgo, B., Lee, J., Sung, J., Vestbo, J., Müller, V., Kunos, L., & Bikov, A. (2020). Obstructive sleep apnea and hypertriglyceridaemia share common genetic background: Results of a twin study. Journal of sleep research, 29(4), e12979.

Silventoinen, K., Jelenkovic, A., Sund, R., Latvala, A., Honda, C., Inui, F., Tomizawa, R., Watanabe, M., Sakai, N., Rebato, E., Busjahn, A., Tyler, J., Hopper, J. L., Ordoñana, J. R., … Park, H. A., Lee, J., Lee, S. J., Sung, J., … Kaprio, J. (2020). Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts. Scientific reports, 10(1), 12681.

Jin, T., Youn, J., Kim, A. N., Kang, M., Kim, K., Sung, J., & Lee, J. E. (2020). Interactions of Habitual Coffee Consumption by Genetic Polymorphisms with the Risk of Prediabetes and Type 2 Diabetes Combined. Nutrients, 12(8), 2228.

Kim, A. N., Cho, H. J., Youn, J., Jin, T., Kang, M., Sung, J., & Lee, J. E. (2020). Coffee Consumption, Genetic Polymorphisms, and the Risk of Type 2 Diabetes Mellitus: A Pooled Analysis of Four Prospective Cohort Studies. International journal of environmental research and public health, 17(15), 5379.

Nguyen, T. L., Li, S., Dite, G. S., Aung, Y. K., Evans, C. F., Trinh, H. N., Baglietto, L., Stone, J., Song, Y. M., Sung, J., English, D. R., Jenkins, M. A., Dugué, P. A., Milne, R. L., Southey, M. C., Giles, G. G., Pike, M. C., & Hopper, J. L. (2020). Interval breast cancer risk associations with breast density, family history and breast tissue aging. International journal of cancer, 147(2), 375–382.

Jelenkovic, A., Sund, R., Yokoyama, Y., Latvala, A., Sugawara, M., Tanaka, M., Matsumoto, S., Freitas, D. L., Maia, J. A., Knafo-Noam, A., Mankuta, D., Abramson, L., Ji, F., Ning, F., Pang, Z., Rebato, E., Saudino, K. J., … Sung, J., Kim, J., Lee, J., Lee, S., … Silventoinen, K. (2020). Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education. Scientific reports, 10(1), 7974.

Gim, J., An, J., Sung, J., Silverman, E. K., Cho, M. H., & Won, S. (2020). A Between Ethnicities Comparison of Chronic Obstructive Pulmonary Disease Genetic Risk. Frontiers in genetics, 11, 329.

Choe, S. A., & Sung, J. (2020). Trends of Premature and Early Menopause: a Comparative Study of the US National Health and Nutrition Examination Survey and the Korea National Health and Nutrition Examination Survey. Journal of Korean medical science, 35(14), e97.

Mukasa, D., & Sung, J. (2020). A prediction model of low back pain risk: a population based cohort study in Korea. The Korean journal of pain, 33(2), 153–165.

Kim, H. J., Seo, Y. S., Sung, J., Chae, J., Yun, J. M., Kwon, H., Cho, B., Kim, J. I., & Park, J. H. (2020). A genome-wide by PM10 interaction study identifies novel loci for lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults. Chemosphere, 245, 125581.

Mukasa, D., & Sung, J. (2020). A prediction model of Nephrolithiasis Risk: A population-based cohort study in Korea. Investigative and clinical urology, 61(2), 188–199. 

Hopper, J. L., Nguyen, T. L., Schmidt, D. F., Makalic, E., Song, Y. M., Sung, J., Dite, G. S., Dowty, J. G., & Li, S. (2020). Going Beyond Conventional Mammographic Density to Discover Novel Mammogram-Based Predictors of Breast Cancer Risk. Journal of clinical medicine, 9(3), 627.

Seo, B., Jeon, K., Moon, S., Lee, K., Kim, W. K., Jeong, H., Cha, K. H., Lim, M. Y., Kang, W., Kweon, M. N., Sung, J., Kim, W., Park, J. H., & Ko, G. (2020). Roseburia spp. Abundance Associates with Alcohol Consumption in Humans and Its Administration Ameliorates Alcoholic Fatty Liver in Mice. Cell host & microbe, 27(1), 25–40.e6.