TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease

Eero Vuoksimaa; Toni T Saari; Aino Aaltonen; Sari Aaltonen; Sanna-Kaisa Herukka; Paula Iso-Markku; Tarja Kokkola; Aija Kyttälä; Sari Kärkkäinen; Hilkka Liedes; Miina Ollikainen; Teemu Palviainen; Ilona Ruotsalainen; Auli Toivola; Mia Urjansson; Tommi Vasankari; Henri Vähä-Ypyä; Markus M Forsberg; Mikko Hiltunen; Anu Jalanko; Reetta Kälviäinen; Teijo Kuopio; Jaakko Lähteenmäki; Pia Nyberg; Minna Männikkö; Raisa Serpi; Sanna Siltanen; FinnGen; Aarno Palotie; Jaakko Kaprio; Heiko Runz; Valtteri Julkunen

doi:10.1101/2023.11.03.23298018

TWINGEN - protocol for an observational clinical biobank recall and biomarker study to identify individuals with high risk of Alzheimer's disease

medRxiv [Preprint]. 2023 Nov 7:2023.11.03.23298018. doi: 10.1101/2023.11.03.23298018.

Authors

Eero Vuoksimaa¹, Toni T Saari¹, Aino Aaltonen¹, Sari Aaltonen¹, Sanna-Kaisa Herukka^{2

3}, Paula Iso-Markku¹, Tarja Kokkola², Aija Kyttälä⁴, Sari Kärkkäinen², Hilkka Liedes^{1

5}, Miina Ollikainen¹, Teemu Palviainen¹, Ilona Ruotsalainen^{1

6}, Auli Toivola⁴, Mia Urjansson¹, Tommi Vasankari^{7

8}, Henri Vähä-Ypyä⁷, Markus M Forsberg^{9

10}, Mikko Hiltunen², Anu Jalanko¹, Reetta Kälviäinen^{2

3}, Teijo Kuopio¹¹, Jaakko Lähteenmäki⁶, Pia Nyberg^{12

13}, Minna Männikkö¹⁴, Raisa Serpi¹², Sanna Siltanen¹⁵; FinnGen; Aarno Palotie^{1

16

17}, Jaakko Kaprio¹, Heiko Runz^{1

18}, Valtteri Julkunen^{2

3}

Affiliations

¹ Institute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
² Department of Neurology, Institute of Clinical Medicine, University of Eastern Finland, Kuopio, Finland.
³ Department of Neurology, Neurocenter, Kuopio University Hospital, Kuopio, Finland.
⁴ Finnish Institute for Health and Welfare, Helsinki, Finland.
⁵ VTT Technical Research Centre of Finland Ltd., Oulu, Finland.
⁶ VTT Technical Research Centre of Finland Ltd., Espoo, Finland.
⁷ UKK Institute for Health Promotion Research, Tampere, Finland.
⁸ Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
⁹ School of Pharmacy, Faculty of Health Sciences, University of Eastern Finland, Kuopio, Finland.
¹⁰ VTT Technical Research Centre of Finland Ltd., Kuopio, Finland.
¹¹ Central Finland Biobank, Central Finland Health Care District, Jyväskylä, Finland.
¹² Biobank Borealis of Northern Finland, Oulu University Hospital, Wellbeing Services county of North Ostrobothnia, Oulu, Finland.
¹³ Translational Medicine Research Unit, University of Oulu, Oulu, Finland.
¹⁴ Arctic Biobank, Infrastructure for Population Studies, Faculty of Medicine, University of Oulu, Oulu, Finland.
¹⁵ Finnish Clinical Biobank Tampere, Tampere University Hospital, Wellbeing Services County of Pirkanmaa, Tampere, Finland.
¹⁶ Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology and Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.
¹⁷ The Stanley Center for Psychiatric Research and Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.
¹⁸ Translational Sciences, Biogen, Cambridge, MA, USA.

Abstract

Introduction: A better understanding of the earliest stages of Alzheimer's disease (AD) could expedite the development or administration of treatments. Large population biobanks hold the promise to identify individuals at an elevated risk of AD and related dementias based on health registry information. Here, we establish the protocol for an observational clinical recall and biomarker study called TWINGEN with the aim to identify individuals at high risk of AD by assessing cognition, health and AD-related biomarkers. Suitable candidates were identified and invited to participate in the new study among Finnish biobank donors according to TWINGEN study criteria.

Methods and analysis: A multi-center study (n=800) to obtain blood-based biomarkers, telephone-administered and web-based memory and cognitive parameters, questionnaire information on lifestyle, health and psychological factors, and accelerometer data for measures of physical activity, sedentary behavior and sleep. A sub-cohort are being asked to participate in an in-person neuropsychological assessment (n=200) and wear an Oura ring (n=50). All participants in the TWINGEN study have genome-wide genotyping data and up to 48 years of follow-up data from the population-based older Finnish Twin Cohort (FTC) study of the University of Helsinki. TWINGEN data will be transferred to Finnish Institute of Health and Welfare (THL) biobank and we aim to further to transfer it to the FinnGen study where it will be combined with health registry data for prediction of AD.

Ethics and dissemination: This recall study consists of FTC/THL/FinnGen participants whose data were acquired in accordance with the Finnish Biobank Act. The recruitment protocols followed the biobank protocols approved by Finnish Medicines Agency. The TWINGEN study plan was approved by the Ethics Committee of Hospital District of Helsinki and Uusimaa (number 16831/2022). THL Biobank approved the research plan with the permission no: THLBB2022_83.

Keywords: Alzheimer’s disease; biobank; biomarkers; cognition; recall study.

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Preprint

Abstract

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