Twin Korea :::: Healty Twin Study Korea

The Healty Twin Study Korea

1. Project Overview

The "Healthy Twin" study was launched by the support of Korean NIH in year 2005. The study stemmed from the huge "Korean Twin and Family Registry", which included more than 200 thousand twin pairs and 4 million individuals with known family relationships. If you need more information, you can download an article (Sung et al 2002) on the baseline information about former Korean Twin and family registry, and an article (Sung et al 2006) on the study design of Healthy Twin.

2. Protocols of the Healthy Twin Study

1) Questionnaire
- Contents of Questionnaire version 1 & 2 & supplement questionnaire (since 2009)
Subject/Item No. of items Contents (Original version) Validation Target respondent Changes by the Version
(ver 1 and ver2)
F/U Quest
original korean
Zygosity screening 5 (Australian, Finnish, Swedish twin study) + + Twin No
Family members 5 Asking total family and biological relationship Twin V1 twins only -> V2 : All No
Birth and development,
handedness of twin
20 (Australian, Finnish, Swedish twin study) + Twin No
Life time residence 3 Area of residence since birth (both twin) Twin No
Perinatal history 8 (Australian, Finnish, Swedish twin study) twin's mother No
Demographics 6 For 35 disease entities All No
Past medical history 35 For 35 disease entities All V2 +retinal diseases,
benign tumor of breasts
Yes
family history of disease and total family members 6 For 17 disease entities All V2 +thyroid diseases, retina/cataract/glaucoma Yes
Occupation & shift work 4 For 35 disease entities All V2 +regular or temporary position Yes
Job Stress 25 Karasek + + All V2 +difficulty-reward model f/u Q: difficulty-reward model only Yes/No
Depression Scale 20 All
Medication 8 NSAIDs and vitamins All V2 +Antibiotics & prescribed Rx during 6 Months Yes
smoking & ETS with FTND 17 + + All Yes
Alcohol intake with AUDIT 14 + + All Yes
Facial flushing 2 Do you flush with small amount of alcohol? + + All Only V2 and f/u Q Yes
socio-economic position 4 Categorical income level / household No. / education level / marital status All Yes
Physical activity 19 IPAQ long form + + All Short form in f/u quest. -> Yes
lifetime weight change 11 Harvard All V2 +Antibiotics & prescribed Rx during 6 Months No
Sleeping and snoring 2 Total duration of sleeping / snoring + + All No
anxieity sensitivity 36 the expanded anxiety sensitivity index + + All No
State/trait anxiety level 40 state trait anxiety inventory + + All No
Presbyopia screening 4 Harvard - All Only in V2 & f/u Q Yes
Personality 140 temperament and character inventory (TCI) + + All No
Broiled and fried food 9 Preference&frequency of burnt/fried food All Yes
food frequency table 108 Standardized food items with photographic amount exhibitions + All Yes
eating behavior inventory 33 All Yes
female reproductive history 20 All Women Yes
sexual activity 10 Women taking Pap Yes
regularity and speed of eating meal 3 All Yes
salt intake 4 All Yes
history of fracture 3 All Yes
history of bowel disease 2 All Yes
history of pregnancy induced diabetes 2 All Women Yes
history of back pain 4 All Yes
regular medication 1 All Yes
handedness 2 All Yes

The language used in this questionnaire is Korean (current Korean version, which is the version 2 of above table), and you can also download the english version

2) Measurements and Biorepositories
Clinical measurements Electrocardiogram, pulmonaryfunction test, chest X-ray, body composition analysis (Impedance), body fat measurement (DEXA), bone density (DEXA, whole body only)
Physical Examination Physical examination, bloodpressure, height, weight, sitting height,
arm span, head circumference, waist circumference, hip circumference
Blood pressure, vital signs and whole body physical exams
Cancer Screening 1. mammography AND cytology of cervix uteri (pap smear)
2. endoscopies: recommend national cancer screening programs over age 40 (with incentive)
3. PSA (over age 40)
Blood Tests and others 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)
Biological Specimens
(# of aliquots)
DNA extract (>total 100g, -5g, 5g, 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)
3) Genotyping
  • STR (16 forensic markers, ABI) : for all
  • Affymetrix genechip version 6 (1M SNPs) : done 1870 individuals

3. Update (participants)

age-sex distribution by twins and families (as of Mar 2014)
Age Men Women Twin
indivs
Family Total
Twin Family Sum Twin Family Sum
MZ DZ MZ+DZ MZ DZ MZ+DZ
20~29 20 - 20 159 179 57 5 62 165 227 82 324 406
30~39 234 66 306 180 480 397 86 490 243 733 796 423 1219
40~49 100 18 118 144 260 187 40 227 233 460 345 377 714
50~59 46 24 73 159 229 53 10 64 267 331 137 426 557
60~69 2 - 2 198 199 2 - 2 231 233 4 429 430
over 70 - - - 61 58 2 - 2 73 75 2 134 133
total 402 108 519 901 1420 698 141 847 1212 2059 1366 2113 3479
age-sex distribution of follow-up participants by twins and families (as of Mar 2014)
Age Men Women Twin
indivs
Family Total
Twin Family Sum Twin Family Sum
MZ DZ MZ+DZ MZ DZ MZ+DZ
20~29 6 - 6 51 57 33 2 35 62 97 41 113 154
30~39 155 43 198 93 291 279 60 340 144 484 538 237 775
40~49 71 13 84 85 169 150 27 177 133 310 261 218 479
50~59 29 16 45 79 124 42 9 51 154 205 96 233 329
60~69 2 - 2 117 119 2 - 2 148 150 4 265 269
over 70 - - - 27 27 2 - 2 40 42 2 67 69
total 263 72 335 452 787 508 96 607 681 1288 942 1133 2075

4. Publication List

please email to jsung@snu.ac.kr for reprints
  • 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
  • Mi Kyeong Lee, Sung-Il Cho, Ho Kim, Yun-Mi Song. Epidemiologic Characteristics of Intraocular Pressure in the Korean and Mongolian Populations: The Healthy Twin and the GENDISCAN Study. 2011 by the American Academy of Ophthalmology. 2011 Sep 8
  • Youn Sik Kim, Hansoo Ko, Changgyo Yoon, Dong-Hun Lee, Joohon Sung. Social Determinants of Smoking Behavior. Journal of Preventive Medicine and Public Health 2012 Jan;Vol. 45 No. 1, 29-36. 2011 Oct 22
  • Joo-Hyun Park, Yun-Mi Song, Joohon Sung, Kayoung Lee. The association between fat and lean mass and bone mineral density: The Healthy Twin Study. Bone 50 (2012). 2012 Jan 20
  • Eu Suk Kim, Hong Bin Kim, Kyoung-Ho Song, Young Keun Kim. Prospective Nationwide Surveillance of Surgical Site Infections after Gastric Surgery and Risk Factor Analysis in the Korean Nosocomial Infections Surveillance System (KONIS). infection control and hospital epidemiology june 2012, vol. 33, no. 6. 2012 Apr 19.
  • Y. Song, K. Lee, J. Sung, D. Lee. Genetic and environmental relationships between Framingham Risk Score and adiposity measures in Koreans: The Healthy Twin Study. Nutrition, Metabolism & Cardiovascular Diseases 2012. 2010 Sep 6
  • Yun-Mi Song, Kayoung Lee, Joohon Sung, Yun Joo Yang. Changes in eating behaviors and body weight in Koreans: The Healthy Twin Study. Nutrition xxx (2012). 2012 Mar 16
  • Kyoung-Ho Song, Eu Suk Kim,Young Keun Kim, Hye Young Jin, Differences in the Risk Factors for Surgical Site Infection between Total Hip Arthroplasty and Total Knee Arthroplasty in the Korean Nosocomial Infections Surveillance System (KONIS). Infection Control and Hospital Epidemiology, Vol. 33, No. 11 (November 2012), pp.1086-1093. 2012 Sep 24
  • Hansoo Park, Seungbok Lee, Hyun-Jin Kim, Young Seok Ju. Comprehensive genomic analyses associate UGT8 variants with musical ability in a Mongolian population. BMJ Publishing Group Ltd . 2012 Oct 10
  • Bayasgalan Gombojav, Yun-Mi Song, Kayoung Lee, Sarah Yang. The Healthy Twin Study, Korea Updates: Resources for Omics and Genome Epidemiology Studies. Twin Research and Human Genetics. 2012 Oct 29
  • Hansoo Park, Hyun-Jin Kim, Seungbok Lee, Yun Joo Yoo. A family-based association study after genome-wide linkage analysis identified two genetic loci for renal function in a Mongolian population. Kidney International advance online publication. 2012 Dec 19

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)