Swedish Twin Registry - STR HISTORY • Started by Lars Friberg and Rune Cederlöf in the late 1950’s • Church records of twin births 1886-1925 • All identified same sex twins contacted during the 1960’s • Today: all alive Swedish born twins aged 10 or more have been contacted and asked for participation Steering group • Steering group: Patrik Magnusson (director) Nancy Pedersen, Paul Lichtenstein, Martin Schalling, Maria Feychting, Laura Fratiglioni, Johan Askling, Tomas Ekström, Mikael Norman, Olli Kallioniemi • Evaluation of applications • Meetings 4 times per year The Swedish Twin Registry – Historical cohort compilations and contacts Birth cohort 2004-2006 1986-2004 1959-1985 1926-1958 1886-1925 1960 1970 1980 1990 2000 2010 Current ascertainment into STR • Since 2004 we systematically contact parents to Swedish born twins when they turn 9 years of age • Request to participate in STR – broad consent • Screen for somatic and mental health problem • High participation rate (70-80%) • Follow-up’s at 12, 15, 18 years Recent “Landmark” • All adult Swedish born twins 10 years or older have now been contacted for participation with general questionnaire and DNA donation request • 200 000 in the register • 150 000 have zygosity • The largest twin register in the world Data • • • • • • • • • • Paper Questionnaires Telephone interviews (SALT 1998-2002) Web questionnaires (2005 and onwards) Health check-up (TwinGene, CATSS, SATSA) Health registers (SoS) DNA (N=50 000) GWAS (N=33 000, 27 000 not counting MZ twice) Serum (N=15 000) Blood biochemistry (TwinGene, SATSA) Computer tests (cognition, time-consistency) GWAS • Older cohort (1911-1958): – Illumina GWAS array N = 20 000 – Excl. redundant MZ genomes N = 16 000 – Genotyped in Uppsala (SNP&SEQ Tech) 2008, 2011, 2015 • Younger cohort (1994 -- ) – Illumina GWAS array N = 13 000 – Excl. redundant MZ genomes N=11 000 – Genotyped in Uppsala (SNP&SEQ Tech) 2015 Serum measurements • All of TwinGene (N=12600) – – – – HDL, LDL, TC, TG, CRP, Hb, HbA1c, Glucose, ApoA1, ApoB ACPA (Lars Klareskog) Total IgA (Lennart Hammarström) Creatinine, Cystatin C (Per Svensson) • Subsets – – – – LpPla2, aPC, aOxCl (Ulf de Faire, Johan Frostegård) PCSK9 (Anders Hamsten) Proteomics (SciLife Lab Protein atlas) Metabolomics (HPLC Mass spec) Serum is an available but limited resource - should be used thoughtfully! Epigenetics • Key observations: – Gene expression differs between cell types within individual – MZ twins - discordant – Gene expression influenced by environment • Measure Epigenetics: – DNA methylation, histone acetylation etc. • Confounding from Genetics: – MZ twins may provide remedy! Applying for new projects • STR steering committee meets 4 times/year • Short application + CV + ethics permission http://ki.se/forskning/for-forskare-str • metadata + questionnaires assessable for free • Blood, serum and DNA stored in biobank • Phenotypes