바로가기 메뉴
본문 바로가기
푸터 바로가기

서울대학교 서울대학교 보건대학원

사이트맵
검색
TOP

 

Faculty

성주헌 교수

보건학과 보건학전공

전공유전체 & 건강빅데이터
연구실220동 704호
연락처02-880-2828
이메일jsung@snu.ac.kr
학력사항

1993

서울대학교 의학과, 학사

1998

서울대학교 보건대학원, 보건학, 석사

2000

서울대학교 의학대학원, 예방의학, 박사

2004

Southwest Foundation for Biomedical Research, 유전역학, Postdoc

2005

Columbia University, 유전역학, Postdoc

연구분야

유전체역학, 유전체코호트, 가족 및 쌍둥이 연구
비만-대사질환 및 심혈관계질환 가족암등

연구실적
  • You HJ, Si J, Kim J, et al. Bacteroides vulgatus SNUG 40005 Restores Akkermansia Depletion by Metabolite Modulation. Gastroenterology. Jan 2023;164(1):103-116. doi:10.1053/j.gastro.2022.09.040
  • Silventoinen K, Piirtola M, Jelenkovic A, et al. Smoking remains associated with education after controlling for social background and genetic factors in a study of 18 twin cohorts. Sci Rep. Jul 31 2022;12(1):13148. doi:10.1038/s41598-022-17536-x
  • Nguyen TL, Li S, Dowty JG, et al. Familial Aspects of Mammographic Density Measures Associated with Breast Cancer Risk. Cancers (Basel). Mar 14 2022;14(6)doi:10.3390/cancers14061483
  • Li S, Nguyen TL, Nguyen-Dumont T, et al. Genetic Aspects of Mammographic Density Measures Associated with Breast Cancer Risk. Cancers (Basel). Jun 2 2022;14(11)doi:10.3390/cancers14112767
  • Lee KJ, Lee SJ, Bae HJ, Sung J. Exploring the causal inference of migraine on stroke: A Mendelian randomization study. Eur J Neurol. Jan 2022;29(1):335-338. doi:10.1111/ene.15101
  • Lee EJ, Sung J, Kim HL, Kim HN. Whole-Genome Sequencing Reveals Age-Specific Changes in the Human Blood Microbiota. J Pers Med. Jun 7 2022;12(6)doi:10.3390/jpm12060939
  • Kim YS, Kang M, Choe YJ, Sung J, Lee JY, Choe SA. 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. Eur J Pediatr. May 2022;181(5):2109-2116. doi:10.1007/s00431-022-04410-1
  • Kim M, Sung J, Kim JK, et al. Multiple primary cancers in men with sporadic or familial prostate cancer: Its clinical implications. Urol Oncol. Nov 2022;40(11):489.e1-489.e7. doi:10.1016/j.urolonc.2022.07.016
  • Kim HJ, Son HY, Sung J, et al. A Genome-Wide Association Study on Abdominal Adiposity-Related Traits in Adult Korean Men. Obes Facts. 2022;15(4):590-599. doi:10.1159/000524670
  • Kang GW, Kim YH, Hong C, et al. Heritability of maxillary dental cephalometric variables among monozygotic twins, dizygotic twins and their siblings. Clin Oral Investig. Oct 2022;26(10):6275-6281. doi:10.1007/s00784-022-04579-7
  • Jeong Y, Sung J. An automated deep learning method and novel cardiac index to detect canine cardiomegaly from simple radiography. Sci Rep. Aug 25 2022;12(1):14494. doi:10.1038/s41598-022-18822-4
  • Jeong Y, Cho CE, Kim JE, et al. Deep learning model to predict Epstein-Barr virus associated gastric cancer in histology. Sci Rep. Nov 2 2022;12(1):18466. doi:10.1038/s41598-022-22731-x
  • Zwir I, Del-Val C, Arnedo J, et al. Three genetic-environmental networks for human personality. Mol Psychiatry. Aug 2021;26(8):3858-3875. doi:10.1038/s41380-019-0579-x
  • Seki M, Choi H, Kim K, Whang J, Sung J, Mitarai S. Tuberculosis: A persistent unpleasant neighbour of humans. J Infect Public Health. Apr 2021;14(4):508-513. doi:10.1016/j.jiph.2021.01.005
  • Park HM, Kim PJ, Sung J, et al. Differences in the heritability of craniofacial skeletal and dental characteristics between twin pairs with skeletal Class I and II malocclusions. Korean J Orthod. Nov 25 2021;51(6):407-418. doi:10.4041/kjod.2021.51.6.407
  • Nguyen TL, Schmidt DF, Makalic E, et al. Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure. Int J Cancer. May 1 2021;148(9):2193-2202. doi:10.1002/ijc.33396
  • Kong M, Hwang S, Ko H, et al. Heritability of macular ganglion cell inner plexiform layer thickness as determined by optical coherence tomography: the Healthy Twin Study. Br J Ophthalmol. Jul 2021;105(7):1011-1015. doi:10.1136/bjophthalmol-2020-316512
  • Kim H, Choe SA, Lee SJ, Sung J. 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. 2021;16(2):e0247757. doi:10.1371/journal.pone.0247757
  • Kim H, Bae JH, Park KS, Sung J, Kwak SH. DNA Methylation Changes Associated with Type 2 Diabetes and Diabetic Kidney Disease in an East Asian Population. J Clin Endocrinol Metab. Jul 2 2021;doi:10.1210/clinem/dgab488
  • Joo Kang S, Shin CM, Sung J, Kim N. Association Between ALDH2 Polymorphism and Gastric Cancer Risk in Terms of Alcohol Consumption: A Meta-Analysis. Alcohol Clin Exp Res. Jan 2021;45(1):6-14. doi:10.1111/acer.14508
  • Jokkel Z, Forgo B, Hani-Gaius Ghattas C, et al. Heritability of Cardiothoracic Ratio and Aortic Arch Calcification in Twins. Medicina (Kaunas). Apr 27 2021;57(5)doi:10.3390/medicina57050421
  • Cho J, Park K, Choi SM, et al. Genome-wide association study of non-tuberculous mycobacterial pulmonary disease. Thorax. Feb 2021;76(2):169-177. doi:10.1136/thoraxjnl-2019-214430
  • Zwir I, Arnedo J, Del-Val C, et al. Uncovering the complex genetics of human temperament. Mol Psychiatry. Oct 2020;25(10):2275-2294. doi:10.1038/s41380-018-0264-5
  • Zwir I, Arnedo J, Del-Val C, et al. Uncovering the complex genetics of human character. Mol Psychiatry. Oct 2020;25(10):2295-2312. doi:10.1038/s41380-018-0263-6
  • Song DY, Youn J, Kim K, Sung J, Lee JE. Urinary Sodium and Potassium Levels and Blood Pressure in Population with High Sodium Intake. Nutrients. Nov 10 2020;12(11)doi:10.3390/nu12113442
  • Silventoinen K, Jelenkovic A, Sund R, et al. Genetic and environmental variation in educational attainment: an individual-based analysis of 28 twin cohorts. Sci Rep. Jul 29 2020;10(1):12681. doi:10.1038/s41598-020-69526-6
  • Seo B, Jeon K, Moon S, et al. Roseburia spp. Abundance Associates with Alcohol Consumption in Humans and Its Administration Ameliorates Alcoholic Fatty Liver in Mice. Cell Host Microbe. Jan 8 2020;27(1):25-40.e6. doi:10.1016/j.chom.2019.11.001
  • Oh JJ, Shivakumar M, Miller J, et al. Author Correction: An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer. Sci Rep. Feb 7 2020;10(1):2481. doi:10.1038/s41598-020-59361-0
  • Nguyen TL, Schmidt DF, Makalic E, et al. Novel mammogram-based measures improve breast cancer risk prediction beyond an established mammographic density measure. Int J Cancer. Nov 16 2020;doi:10.1002/ijc.33396
  • Nguyen TL, Li S, Dite GS, et al. Interval breast cancer risk associations with breast density, family history and breast tissue aging. Int J Cancer. Jul 15 2020;147(2):375-382. doi:10.1002/ijc.32731
  • Mukasa D, Sung J. A prediction model of Nephrolithiasis Risk: A population-based cohort study in Korea. Investig Clin Urol. Mar 2020;61(2):188-199. doi:10.4111/icu.2020.61.2.188
  • Mukasa D, Sung J. A prediction model of low back pain risk: a population based cohort study in Korea. Korean J Pain. Apr 1 2020;33(2):153-165. doi:10.3344/kjp.2020.33.2.153
  • Meszaros M, Tarnoki AD, Tarnoki DL, et al. Obstructive sleep apnea and hypertriglyceridaemia share common genetic background: Results of a twin study. J Sleep Res. Jan 6 2020:e12979. doi:10.1111/jsr.12979
  • Li S, Nguyen TL, Wong EM, et al. Genetic and environmental causes of variation in epigenetic aging across the lifespan. Clin Epigenetics. Oct 22 2020;12(1):158. doi:10.1186/s13148-020-00950-1
  • Kong M, Hwang S, Ko H, et al. Heritability of macular ganglion cell inner plexiform layer thickness as determined by optical coherence tomography: the Healthy Twin Study. Br J Ophthalmol. Aug 11 2020;doi:10.1136/bjophthalmol-2020-316512
  • Kim JH, Kim YH, Kim SJ, et al. Twin study-genetic comparison of matrix versus intramatrix rotation in the mandible and three different occlusal planes. Prog Orthod. Dec 7 2020;21(1):44. doi:10.1186/s40510-020-00344-2
  • Kim J, Sung J, Han K, et al. A High Quality Asian Genome Assembly Identifies Features of Common Missing Regions. Genes (Basel). Nov 13 2020;11(11)doi:10.3390/genes11111350
  • Kim J, Lee J, Choi IJ, Kim YI, Sung J, Kim J. TNF genetic polymorphism (rs1799964) may modify the effect of the dietary inflammatory index on gastric cancer in a case-control study. Sci Rep. Sep 3 2020;10(1):14590. doi:10.1038/s41598-020-71433-9
  • Kim HJ, Seo YS, Sung J, et al. A genome-wide by PM10 interaction study identifies novel loci for lung function near BICD1 and IL1RN-IL1F10 genes in Korean adults. Chemosphere. Apr 2020;245:125581. doi:10.1016/j.chemosphere.2019.125581
  • Kim AN, Cho HJ, Youn J, et al. Coffee Consumption, Genetic Polymorphisms, and the Risk of Type 2 Diabetes Mellitus: A Pooled Analysis of Four Prospective Cohort Studies. Int J Environ Res Public Health. Jul 26 2020;17(15)doi:10.3390/ijerph17155379
  • Kho M, Smith JA, Verweij N, et al. 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. J Nutr. Oct 12 2020;150(10):2635-2645. doi:10.1093/jn/nxaa241
  • Jin T, Youn J, Kim AN, et al. Interactions of Habitual Coffee Consumption by Genetic Polymorphisms with the Risk of Prediabetes and Type 2 Diabetes Combined. Nutrients. Jul 26 2020;12(8)doi:10.3390/nu12082228
  • Jelenkovic A, Sund R, Yokoyama Y, et al. Genetic and environmental influences on human height from infancy through adulthood at different levels of parental education. Sci Rep. May 14 2020;10(1):7974. doi:10.1038/s41598-020-64883-8
  • Hopper JL, Nguyen TL, Schmidt DF, et al. Going Beyond Conventional Mammographic Density to Discover Novel Mammogram-Based Predictors of Breast Cancer Risk. J Clin Med. Feb 26 2020;9(3)doi:10.3390/jcm9030627
  • Gim J, An J, Sung J, Silverman EK, Cho MH, Won S. A Between Ethnicities Comparison of Chronic Obstructive Pulmonary Disease Genetic Risk. Front Genet. 2020;11:329. doi:10.3389/fgene.2020.00329
  • Choe SA, Sung J. 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. J Korean Med Sci. Apr 13 2020;35(14):e97. doi:10.3346/jkms.2020.35.e97
  • Cho J, Park K, Choi SM, et al. Genome-wide association study of non-tuberculous mycobacterial pulmonary disease. Thorax. Oct 28 2020;doi:10.1136/thoraxjnl-2019-214430
  • Zwir I, Del-Val C, Arnedo J, et al. Three genetic-environmental networks for human personality. Mol Psychiatry. Nov 21 2019;doi:10.1038/s41380-019-0579-x
  • Szily M, Tarnoki AD, Tarnoki DL, et al. Genetic influences on the onset of obstructive sleep apnoea and daytime sleepiness: a twin study. Respir Res. Jun 17 2019;20(1):125. doi:10.1186/s12931-019-1095-x
  • Song YM, Lee K, Sung J. Genetic and environmental relationships between eating behavior and symptoms of anxiety and depression. Eat Weight Disord. Oct 2019;24(5):887-895. doi:10.1007/s40519-017-0445-2
  • Song J, Chae HS, Shin JW, et al. Influence of heritability on craniofacial soft tissue characteristics of monozygotic twins, dizygotic twins, and their siblings using Falconer’s method and principal components analysis. Korean J Orthod. Jan 2019;49(1):3-11. doi:10.4041/kjod.2019.49.1.3
  • Silventoinen K, Jelenkovic A, Latvala A, et al. Parental Education and Genetics of BMI from Infancy to Old Age: A Pooled Analysis of 29 Twin Cohorts. Obesity (Silver Spring). May 2019;27(5):855-865. doi:10.1002/oby.22451
  • Oh JJ, Shivakumar M, Miller J, et al. An exome-wide rare variant analysis of Korean men identifies three novel genes predisposing to prostate cancer. Sci Rep. Nov 20 2019;9(1):17173. doi:10.1038/s41598-019-53445-2
  • Oh B, Sung J, Chun S. Potentially modifiable blood triglyceride levels by the control of conventional risk factors. Lipids Health Dis. Dec 13 2019;18(1):222. doi:10.1186/s12944-019-1134-0
  • Nguyen TL, Li S, Dite GS, et al. Interval breast cancer risk associations with breast density, family history and breast tissue aging. Int J Cancer. Oct 14 2019;doi:10.1002/ijc.32731
  • Lee SJ, Lee JY, Sung J. Obesity and Bone Health Revisited: A Mendelian Randomization Study for Koreans. J Bone Miner Res. Jun 2019;34(6):1058-1067. doi:10.1002/jbmr.3678
  • Kim HJ, Seo YS, Sung J, et al. Interactions of CDH13 gene polymorphisms and ambient PM10 air pollution exposure with blood pressure and hypertension in Korean men. Chemosphere. Mar 2019;218:292-298. doi:10.1016/j.chemosphere.2018.11.125
  • Kim DK, Sung J, Song YM, Kim EM, Kim YH, Baek SH. Differences in heritability of craniofacial skeletal and dental characteristics between hypo- and hyper-divergent patterns using Falconer’s method and principal component analysis. Angle Orthod. Mar 2019;89(2):242-251. doi:10.2319/062518-475.1
  • Kang M, Sung J. A genome-wide search for gene-by-obesity interaction loci of dyslipidemia in Koreans shows diverse genetic risk alleles. J Lipid Res. Dec 2019;60(12):2090-2101. doi:10.1194/jlr.P119000226
  • Chauhan G, Adams HHH, Satizabal CL, et al. Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting. Neurology. Jan 16 2019;doi:10.1212/wnl.0000000000006851
  • Zwir I, Arnedo J, Del-Val C, et al. Uncovering the complex genetics of human temperament. Mol Psychiatry. Oct 2 2018;doi:10.1038/s41380-018-0264-5
  • Zwir I, Arnedo J, Del-Val C, et al. Uncovering the complex genetics of human character. Mol Psychiatry. Oct 3 2018;doi:10.1038/s41380-018-0263-6
  • Yang S, Lee J, Park Y, et al. Interaction between alcohol consumption and methylenetetrahydrofolate reductase polymorphisms in thyroid cancer risk: National Cancer Center cohort in Korea. Sci Rep. Mar 6 2018;8(1):4077. doi:10.1038/s41598-018-22189-w
  • Wyss AB, Sofer T, Lee MK, et al. Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function. Nat Commun. Jul 30 2018;9(1):2976. doi:10.1038/s41467-018-05369-0
  • Shin CM, Kim N, Cho SI, Sung J, Lee HJ. Validation of Alcohol Flushing Questionnaires in Determining Inactive Aldehyde Dehydrogenase-2 and Its Clinical Implication in Alcohol-Related Diseases. Alcohol Clin Exp Res. Feb 2018;42(2):387-396. doi:10.1111/acer.13569
  • Piirtola M, Jelenkovic A, Latvala A, et al. Association of current and former smoking with body mass index: A study of smoking discordant twin pairs from 21 twin cohorts. PLoS One. 2018;13(7):e0200140. doi:10.1371/journal.pone.0200140
  • Park B, Koo SM, An J, et al. Genome-wide assessment of gene-by-smoking interactions in COPD. Sci Rep. Jun 18 2018;8(1):9319. doi:10.1038/s41598-018-27463-5
  • Nguyen TL, Choi YH, Aung YK, et al. Breast Cancer Risk Associations with Digital Mammographic Density by Pixel Brightness Threshold and Mammographic System. Radiology. Feb 2018;286(2):433-442. doi:10.1148/radiol.2017170306
  • Nguyen TL, Aung YK, Li S, et al. Predicting interval and screen-detected breast cancers from mammographic density defined by different brightness thresholds. Breast Cancer Res. Dec 13 2018;20(1):152. doi:10.1186/s13058-018-1081-0
  • Li S, Wong EM, Dugue PA, et al. Genome-wide average DNA methylation is determined in utero. Int J Epidemiol. Jun 1 2018;47(3):908-916. doi:10.1093/ije/dyy028
  • Lee JY, Kim J, Kim SW, et al. BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. Sci Rep. Oct 15 2018;8(1):15263. doi:10.1038/s41598-018-31859-8
  • Lee DW, Cho MS, Choe EY, et al. Epicardial Fat Thickness and Bone Mineral Content: The Healthy Twin Study in Korea. J Epidemiol. May 5 2018;28(5):253-259. doi:10.2188/jea.JE20170027
  • Kong M, Choi DY, Han G, et al. Measurable Range of Subfoveal Choroidal Thickness With Conventional Spectral Domain Optical Coherence Tomography. Transl Vis Sci Technol. Sep 2018;7(5):16. doi:10.1167/tvst.7.5.16
  • Ko H, Song YM, Lee SC, et al. Association Between Excessive Alcohol Consumption and Echocardiographic Parameters According to the Presence of Flushing Reaction in Korean Men: A Community-Based Study. Alcohol Clin Exp Res. May 2018;42(5):897-903. doi:10.1111/acer.13622
  • Kim JH, Yeo S, Kim JW, et al. Real-Time Lossless Compression Algorithm for Ultrasound Data Using BL Universal Code. Sensors (Basel). Oct 2 2018;18(10)doi:10.3390/s18103314
  • Kim I, Song YM, Ko H, et al. Educational Disparities in Risk for Metabolic Syndrome. Metab Syndr Relat Disord. Oct 2018;16(8):416-424. doi:10.1089/met.2017.0170
  • Kim HJ, Park JH, Seo YS, et al. CYP1A1 gene polymorphisms modify the association between PM10 exposure and lung function. Chemosphere. Jul 2018;203:353-359. doi:10.1016/j.chemosphere.2018.03.196
  • Kim E, Sung J, Song YM, et al. Heritability of Facial Skeletal and Dental Characteristics of Monozygotic and Dizygotic Twins Using Cephalometric Analysis and Falconer’s Method. J Craniofac Surg. May 2018;29(3):e274-e279. doi:10.1097/scs.0000000000004313
  • Jelenkovic A, Yokoyama Y, Sund R, et al. Associations between birth size and later height from infancy through adulthood: An individual based pooled analysis of 28 twin cohorts participating in the CODATwins project. Early Hum Dev. May 2018;120:53-60. doi:10.1016/j.earlhumdev.2018.04.004
  • Jelenkovic A, Mikkonen J, Martikainen P, et al. Association between birth weight and educational attainment: an individual-based pooled analysis of nine twin cohorts. J Epidemiol Community Health. Sep 2018;72(9):832-837. doi:10.1136/jech-2017-210403
  • Choi S, Ko H, Lee K, Sung J, Song YM. Genetic influence on serum 25-hydroxyvitamin D concentration in Korean men: a cross-sectional study. Genes Nutr. 2018;13:33. doi:10.1186/s12263-018-0621-7
  • Cho Y, Lee S, Hong JH, et al. Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins. Nucleic Acids Res. Sep 6 2018;46(15):e92. doi:10.1093/nar/gky445
연구실적
  • 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.