TwinGene (TwinGene)

The principal objectives of the studies are to:

  • Identify genomic regions harboring susceptibility genes influencing common, complex disorders, focusing on cardiovascular, metabolic and inflammatory disorders;
  • Enable studies of gene-environmental interactions in common, complex disorders. This will be done with help of the extensive information that exists on environmental exposures and phenotypes in the STR, and with the information gained from genotyping;
  • Enable studies on the relationship between biomarkers, gene expression patterns, geno-types and disease, in situations where effects of genotype and disease can be optimally separated, i.e. in disease and phenotype discordant pairs;
  • Enable functional studies (on immune function, metabolic function etc) in situations, where biomarkers for disease risk or the disease itself is present, in phenotype concordant or discordant pairs;
  • Enable prospective, cohort studies to assess the relative role of disease genes, biomarkers and functional properties (for example immune or metabolic functions) for disease development.

General Information

General Design

Study design: 
Cohort study
Recruitment target: 
Families (including twin studies, sibships and family based birth cohorts)
Target number of participants: 
12 600
Target number of participants with biological samples: 
12 600
Supplementary information about target number of participants: 

The Swedish Twin Registry collected the following biospecimens at baseline: 

  • DNA: 12 600 participants
  • Serum: 12 600 participants


Access to external researchers or third parties provided or foreseen for
Data (questionnaire-derived, measured...): 
Biological samples: 

Marker Paper

Marker paper: 
The Swedish Twin Registry: establishment of a biobank and other recent developments. Magnusson PK et al. Twin Res Hum Genet 2013
Pubmed ID: 

Supplementary Information

Endpoints (N incident cases)


Head and Neck (C00-C14; C31, C32) = 19
Esophagus (C15) = 17
Stomach (C16) = 14
Colorectal (C18-21) = 115
Liver (C22) = 11
Gallbladder (C23-24) = 7
Pancreas (C25) = 31
Lung (C33-34) = 79
Breast (C50) = 205
Cervix (C53) = 5
Corpus uteri (C54) = 25
Ovary (C56-57) = 21
Prostate (C61) = 333
Total cancers (C00-C97) excluding non-melanoma skin cancer = NA

Cardiovascular endpoints
Acute coronary events = 618
Stroke = 252

Other endpoints
Type II diabetes (E11) = 157


A detailed list of endpoint incident cases can be downloaded from the Documents section.