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  The Healthy 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.

   

Part 2

 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,

    handednessof 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

    35

    For 17 disease entities

    All

    V2 +thyroid diseases, retina/cataract/glaucoma

    Yes

    Occupation & shift work

    4

    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

    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

    -

    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 (original english version test batteries and some translations).

The language used in this questionnaire is Korean(Korean version), and you can also download the english version.

 

2-2

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 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)

 

   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 Feb 2011)

     

     

     

    Age

    Men

    Women

    Twin

    indivs

    Family

    Total

    Twin

    family

    sum

    Twin

    family

    sum

    MZ

    DZ

    MZ+DZ

    MZ

    DZ

    MZ+DZ

    20~29

    16

    -

    16

    97

    113

    58

    2

    60

    108

    168

    76

    206

    282

    30~39

    224

    64

    288

    160

    448

    389

    82

    471

    227

    698

    759

    146

    1146

    40~49

    100

    16

    116

    125

    241

    185

    40

    225

    204

    429

    341

    56

    670

    50~59

    46

    22

    68

    114

    182

    50

    10

    60

    220

    280

    128

    32

    462

    60~69

    2

    -

    2

    177

    179

    2

    -

    2

    211

    213

    4

    388

    392

    over 70

    -

    -

    ¡¡-

    54

    54

    2

    -

    2

    71

    73

    2

    125

    127

    Total

    388

    102

    490

    430

    1217

    686

    134

    820

    1041

    1861

    1310

    953

    3079

     

          - age-sex distribution of follow-up participants by twins and families (as of Feb 2011)

     

     

     

    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

    27

    33

    23

    -

    23

    28

    51

    29

    55

    84

    30~39

    121

    30

    151

    71

    222

    235

    52

    287

    109

    396

    438

    180

    618

    40~49

    52

    12

    64

    58

    122

    131

    18

    149

    89

    238

    213

    147

    360

    50~59

    22

    10

    32

    49

    81

    34

    8

    42

    109

    151

    74

    158

    232

    60~69

    2

    -

    2

    84

    86

    2

    -

    2

    121

    123

    4

    205

    209

    over 70

    -

    -

    0

    20

    20

    2

    -

    2

    35

    37

    2

    55

    57

    Total

    203

    52

    255

    201

    564

    427

    78

    505

    491

    996

    760

    800

    1560

     

     

4. Publication List  (please email to jsung@snu.ac.kr for reprints)

    1. 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.
    2. 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.
    3. 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.
    4. 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.
    5. 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.
    6. 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.
    7. 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.
    8. 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.
    9. 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.
    10. 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.
    11. 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.
    12. 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.
    13. 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.
    14. 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.
    15. 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.
    16. 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.
    17. 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.
    18. 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.
    19. 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.
    20. 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.
    21. 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.
    22. 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.
    23. 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.
    24. 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.
    25. 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.
    26. 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.
    27. 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.
    28. 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.
    29. 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
    30. 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
    31. 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
    32. 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.