cohorts: a goldmine for research - biobank sverige€¦ · •children and grand-children to index...
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Availability of cohorts and quality issues
Cohorts: A goldmine for research
Eva Ortega-Paíno, PhD
Research and National Biobank Sample Coordinator
Biobank in Sweden
Lund University
Region Skåne Biobank BD47 (Laboratory Medicine)
e-mail: [email protected]/ [email protected]
Image: http://www.strengthvillain.com/your-personal-gold-mine/
What is a cohort?
Cohors: Roman legions were composed of 10
cohorts (worriors and commanding
centurions) that were traceable
Epidemeology: Group of people with defined
characteristics who are followed up to determine incidence
of, or mortality from, some specific disease, all causes of
death, or some other outcome.
Cohorts as Observational Studies
Evaluation of associations between diseases and exposures
Temporal
dimenssion
Retrospective Prospective
Three arguments for population-based cohorts with biobanks
• To understand the transition from health to disease manifestations
• To map causal pathways by use of modern genetics and register-based follow up (Mendelian randomisation) = future drug targets
• To use modern biobanks for advanced phenotyping (genetics, omics, biomarkers, etc.), useful for prediction of risk
Malmö Preventive Project (Malmö Förebyggande
Medicin – MFM )
Malmö Diet and Cancer Study (Malmö Kost
Cancer Studien – MKC)
Malmö Offspring Study (www.med.lu.se/mos)
EpiHealth (www.epihealth.se/)
Some examples of cohort-studies in our
Region
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22000 11000
400 5700 50 1200
6700 11500
• The MPP started in the early 70’s
• Screening survey in the middle-aged population of
Malmö (32-51 years)
• Subjects born in Malmö
• Clinical examination, questionnaire and blood
sampling.
• 22,444 men and 10,902 women (1974-1992)
• During a later follow-up, the MPP-Re-examination
(MPP-RES) in all 17,284 of the original screenes
attended in 2002-2006.
Quality issue: Samples were stored at -20 C until
re-examination (-80C)
The Malmö Preventive Project
Population-based study to assess morbity
and mortality on cardiovascular diseases
17000 11000 1300 1050
13500 2600
2200 150013600 8800
• 30,000 subjects examined in 1991-1996, of which 28,000 subjects had full data set (diet) – EPIC cohort¨
• Age 44-74
• Physical exam, questionnaire, dietary registration
• Biobank samples, DNA
• Genetics: GWAS, exome sequencing in all (Regeneron Inc. US)
• Register follow-up for incident cardiometabolic and cancer events until 2016-12-31
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Malmö diet and cancer study
Population-based proospective cohort to study the impact of diet on
cáncer incidence and mortality
• 6100 subjects examined in 1992-1996
• 3700 subjects (mean age 71 years, 2/3 women) examined during the MDC-CV re-exam in 2007-2012
• Pulse Wave Velocity (PWV) in 3050 subjects (SphygmoCor) –arterial stiffness
• Biobank samples, DNA, OGTT in non-DM subjects
• Genetics: GWAS, exome sequencing
• Register follow-up for incident events
Baseline
MDC-CV
• Ongoing since March 2013, planned until 2020
• Children and grand-children to index subjects(grandparents) in the MDC-CV cohort
• At present 3600 subjects screened for PWV (SphygmoCor), but also 24-h Arteriograph, 24-h ABPM
• Focus on phenotyping, genetics, diet, oral and GI microbiota patterns
• Additional vascular and metabolic phenotypes: carotidultrasound, EndoPat, AGE Reader (sf), biomarkers
Malmö Offspring study cohort
• Physical examination
• Questionnaire
• Lab-samples (with DNA extraction)
• Urinary- and feces sampling (microbiota)
• OGTT (in the beginning), changed to fasting samples
• Technical investigations (PWV, PWA, cIMT, EndoPat)
• Dietary registration (4-day)
• Cognitive testing
• Oral and dental investigations, oral microbiota in the Malmö Offspring Dental Study (MODS)
Microbiota and its consequences
for health- Metabolism
- Obesity
- Immunology
- Vascular function
The EpiHealth-Elderly cohortAim: 300,000 Swedish subjects aged 45-75 yearsInitially recruited in Uppsala and Lund/Malmö
Pilot Projects started in Uppsala in April 2011 and in Malmö in January 2012,currently 25000 subjects have been investigated in September 2019
IT-based medical history of diseases
and life-style factors
(Diseases, medications, diet, smoking,
social network, exersice, QoL,
occupational exposures)
First visit: Blood, urine, DNA,
Blood pressure, heart rythm,
Weight, height, waist
circumference, fat mass,
FEV1, cognition, ADL
Glucose and lipids
Secondary visits for selected
groups: CV, osteoporosis,
lung disorders, dementia etc
Invited groups:
1. Random sample
2. Parents and grandparents
to LifeGene participants
3. From old cohorts at UU/LU
4. From screening programs
Follow-up through registers:
Death, hospitalization, cancerBiobanking at KI Biobank
LifeGene
(18-45 years )
EpiHealth
(45-75 years)
Omics substudy
• GWAS chip in 2500
• Proteomics: CVDI & CVDII & Metabolism
• Metabolomics: Nightingale, MRS-based, 200 metabolites, focus on lipoprotein classes
Study of interactions between genotypes and
lifestyle factors
I would like to thank Peter Nilsson and Sölve Elmståhl for their kindness in providing information about the
Malmö cohorts
Questions arose for discussion
• Once we have all these cohorts and a huge amount of material and data
1. How to market all this material and make it available for research to
give it the right value and revert this value to the society?
2. What is the right forum?
3. Talking about quality, can we ensure quality from the first to last sample in
a long prospective study?
4. Are they far too expensive to conduct until the end of the
collection/study?
5. What about the follow up (long durations, difficulty to be mantained)?
ARE WE EXPLOITING THE GOLDMINE PROPERLY, or just getting
stones out of it?