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Clinical measurements
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Electrocardiogram, pulmonaryfunction test, chest X-ray, body composition analysis (Impedance),
body fat measurement (DEXA), bone density (DEXA, whole body only)
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Physical Examination
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Physical examination, bloodpressure, height, weight, sitting height,
arm span, head circumference, waist circumference, hip circumference
Blood pressure, vital signs and whole body physical exams
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Cancer Screening
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1.mammography
AND cytology of cervix uteri (pap smear)
2.
endoscopies:
recommend national cancer screening programs over age 40 (with incentive)
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Blood Tests and others
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Fasting plasma glucose, fastingplasma insulin,
total cholesterol, HDL cholesterol, LDL cholesterol (directmeasure), triglyceride,
high sensitivity C reactive protein (hs-CRP), totalprotein, albumin,
gamma-glutamyl transferase (GGT),
aspartate aminotransferase (AST), alanine amino transferase (ALT),
creatinine, calcium, uric acid,
complete blood cell count (CBC) with differential count HbA1C (since mid 2006), Routine urinalysis (7 items)
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Biological Specimens
(# of aliquots)
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DNA extract (>total 100¥ìg,
-5¥ìg, 5¥ìg, others #3),
Buffy coat with RNA preparation
(2) (fixed by RNAlater ®, 2005)
immortalized B-Cell line (>106 cells
each, #3 – about 90% success),
serum (0.5ml, #3),
plasma (0.5ml #2~3),
packed red blood cell (1ml, #1)
stool samples (3~5g, #1, starting
from 2007) ->
Commode stool kit (since 2009)
12-hour urine (conical tubes
#4~5),
cervical smear and DNA extracts
(mainly for HPV)
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- Sung J, Cho SI, Lee K, et al. Healthy Twin: a twin-family study of Korea--protocols and current status. Twin.Res.Hum.Genet. 2006;9(6):844-848.
- Sung J, Cho SI, Song YM, et al. Do we need more twin studies? The Healthy Twin Study, Korea. Int.J.Epidemiol. 2006;35(2):488-490.
- Lee K, Song YM, Sung J. Which obesity indicators are better predictors of metabolic risk?: healthy twin study. Obesity.(Silver.Spring). 2008;16(4):834-840.
- Sung J, Lee K, Song YM. Heritabilities of the metabolic syndrome phenotypes and related factors in Korean twins. J Clin Endocrinol Metab. Dec 2009;94(12):4946-4952.
- Sung J, Lee K, Song YM. Relationship of eating behavior to long-term weight change and body mass index: the Healthy Twin study. Eat Weight Disord. Jun-Sep 2009;14(2-3):e98-105.
- Sung J, Lee K, Song YM, et al. Heritability of Eating Behavior Assessed Using the DEBQ (Dutch Eating Behavior Questionnaire) and Weight-related Traits: The Healthy Twin Study. Obesity (Silver Spring). Oct 29 2009;19(11):784-792.
- Song YM, Lee D, Lee MK, et al. Validity of the zygosity questionnaire and characteristics of zygosity-misdiagnosed twin pairs in the Healthy Twin Study of Korea. Twin Res Hum Genet. Jun 2010;13(3):223-230.
- Sung J, Lee K, Song YM. Heritabilities of Alcohol Use Disorders Identification Test (AUDIT) scores and alcohol biomarkers in Koreans: The KoGES (Korean Genome Epi Study) and Healthy Twin Study. Drug Alcohol Depend. Aug 20 2010.
- Sung J, Lee K, Song YM, Lee MK, Lee DH. Heritability of eating behavior assessed using the DEBQ (Dutch Eating Behavior Questionnaire) and weight-related traits: the Healthy Twin Study. Obesity (Silver Spring). May 2010;18(5):1000-1005.
- Sung J, Song YM, Stone J, Lee K, Jeong JI, Kim SS. Genetic influences on mammographic density in Korean twin and family: the Healthy Twin study. Breast Cancer Res Treat. Nov 2010;124(2):467-474.
- Sung J, Song YM, Stone J, Lee K, Kim SY. Association of body size measurements and mammographic density in Korean women: the Healthy Twin study. Cancer Epidemiol Biomarkers Prev. Jun 2010;19(6):1523-1531.
- Kim T, Sung J, Song YM, Lee K, Cho SI. Sex Difference between Body Composition and Weight-Bearing Bone Mineral Density in Korean Adult Twins: Healthy Twin Study. Calcif Tissue Int. Apr 9 2011.
- Sung J, Lee K, Song YM. Heritabilities of Alcohol Use Disorders Identification Test (AUDIT) scores and alcohol biomarkers in Koreans: the KoGES (Korean Genome Epi Study) and Healthy Twin Study. Drug Alcohol Depend. Jan 15 2011;113(2-3):104-109.
- Sung J, Lee K, Song YM, Kim JH. Relationships between state and trait anxiety inventory and alcohol use disorder identification test scores among Korean twins and families: the healthy twin study. Twin Res Hum Genet. Feb 2011;14(1):73-78.
- Sung J, Song YM, Stone J, Lee K. The relationship between bone mineral density and mammographic density in Korean women: The Healthy Twin study. Breast Cancer Res Treat. Apr 22 2011.
- Sung J, Song YM, Stone J, Lee K, Kim SY. High-density lipoprotein cholesterol, obesity, and mammographic density in Korean women: the Healthy Twin study. J Epidemiol. 2011;21(1):52-60.
- Sung J, Song YM, Stone J, Lee K, Lee D. Reproductive factors associated with mammographic density: a Korean co-twin control study. Breast Cancer Res Treat. Mar 26 2011.
- Song YM, Lee D, Lee MK, et al. Validity of the zygosity questionnaire and characteristics of zygosity-misdiagnosed twin pairs in the Healthy Twin Study of Korea. Twin Res Hum Genet. Jun 2010;13(3):223-230.
- Sung J, Lee K, Song YM. Heritabilities of Alcohol Use Disorders Identification Test (AUDIT) scores and alcohol biomarkers in Koreans: The KoGES (Korean Genome Epi Study) and Healthy Twin Study. Drug Alcohol Depend. Aug 20 2010.
- Sung J, Lee K, Song YM, Lee MK, Lee DH. Heritability of eating behavior assessed using the DEBQ (Dutch Eating Behavior Questionnaire) and weight-related traits: the Healthy Twin Study. Obesity (Silver Spring). May 2010;18(5):1000-1005.
- Sung J, Song YM, Stone J, Lee K, Jeong JI, Kim SS. Genetic influences on mammographic density in Korean twin and family: the Healthy Twin study. Breast Cancer Res Treat. Nov 2010;124(2):467-474.
- Sung J, Song YM, Stone J, Lee K, Kim SY. Association of body size measurements and mammographic density in Korean women: the Healthy Twin study. Cancer Epidemiol Biomarkers Prev. Jun 2010;19(6):1523-1531.
- Kim T, Sung J, Song YM, Lee K, Cho SI. Sex Difference between Body Composition and Weight-Bearing Bone Mineral Density in Korean Adult Twins: Healthy Twin Study. Calcif Tissue Int. Apr 9 2011.
- Sung J, Lee K, Song YM. Heritabilities of Alcohol Use Disorders Identification Test (AUDIT) scores and alcohol biomarkers in Koreans: the KoGES (Korean Genome Epi Study) and Healthy Twin Study. Drug Alcohol Depend. Jan 15 2011;113(2-3):104-109.
- Sung J, Lee K, Song YM, Kim JH. Relationships between state and trait anxiety inventory and alcohol use disorder identification test scores among Korean twins and families: the healthy twin study. Twin Res Hum Genet. Feb 2011;14(1):73-78.
- Sung J, Song YM, Stone J, Lee K. The relationship between bone mineral density and mammographic density in Korean women: The Healthy Twin study. Breast Cancer Res Treat. Apr 22 2011.
- Sung J, Song YM, Stone J, Lee K, Kim SY. High-density lipoprotein cholesterol, obesity, and mammographic density in Korean women: the Healthy Twin study. J Epidemiol. 2011;21(1):52-60.
- Sung J, Song YM, Stone J, Lee K, Lee D. Reproductive factors associated with mammographic density: a Korean co-twin control study. Breast Cancer Res Treat. Mar 26, 2011.
- Lee K, Sung J, Lee SC, Park SW, Kim YS, Lee JY, Ebrahim S, Song YM. Segment-specific carotid intima-media thickness and cardiovascular risk factors in Koreans: the Healthy Twin Study. Eur J Cardiovasc Prev Rehabil. 2011 Sep 13
- Song YM, Lee K, Sung J, Kim YS, Lee JY. Sex-specific relationships between adiposity and anthropometric measures and carotid intima-media thickness in Koreans: The Healthy Twin Study. Eur J Clin Nutr. 2011 Aug 31. doi: 10.1038/ejcn.2011.150
- Lee S, Sung J, Lee J, Ko G. Comparison of the gut microbiotas of healthy adult twins living in South Korea and the United States. Appl Environ Microbiol. 2011 Oct;77(20):7433-7. Epub 2011 Aug 26
- Park JH, Song YM, Sung J, Lee K, Kim YS, Park YS. Genetic influence on bone mineral density in Korean twins and families: the healthy twin study. Osteoporos Int. 2011 Jun 9
5. Events & Resources on twin research, family studies, and human genome research
1) Previous Event: Asian-Pacific Family-based Association test workshop
(co-held with Harvard University School of Publich Health)
link to: 2010 FBAT/PBAT Family-Based Association Test Workshop (Click!)
2) Twin-Family Methods Workshop - part I (Domestic, 30th July 2011)
(Lecture was given by the members of Complex Disease and Genome Epidemiology Branch, SNUPH)
This workshop was held as the first part of 3-part workshop, and mainly focused on phenometrics (estimating overall genetic influence of complex traits). The other parts will be "'mapping and identifying common and genetic variants" and "public health implication and evolutionary context".
- Participants: Seoul National University School of Public Health, Genome Research Center, CDC Korea, Seoul Samsung Hospital and Sungkyunkwan University School of Medicine, etc
- Workshop handout (in Korean and in English) can be downloaded here
3) Combined Asian HapMap Reference for Imputation (by Mi-Kyeong Lee and J Sung)
Imputation method has become an essential tool for recent collaborative studies, which enables direct comparison between studies with different SNP marker platforms. Asian HapMap data with 1.39 million SNP markers (consisting of unrelated Han Chinese (CHB) and Japaneses (JPT), 85 persons each) has served as valuable reference for imputing Asian data. However, imputation results with subjects in other Asian populations such as Koreans sometimes had not been satisfactory mainly due to different linkage disequilibrium structure between Koreans and CHG+JPT.
To improve the imputation results, we combined Korean HapMap data (http://www.khapmap.org) consisting of 90 unrelated Koreans, and existing Asian HapMap3 (release 2) after phasing K-HapMap data.
following is the summary of the combining process (click for larger image)

the combined reference data can be downloaded here (88.1 Mb)
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For further information, please e-mail to jsung@snu.ac.kr work) +82)-2-880-2712.
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