“Genetic, epigenetic and molecular identification of novel Alzheimer’s disease related genes and pathways”(ADGEN) is a multidisciplinary study, which focuses on identification of novel Alzheimer’s disease (AD)-associated genes and pathways using existing clinical cohorts from Eastern and Northern Finland. Also, the ADGEN study is intimately linked to the leading international consortia and research centres in AD genetics and thus the researchers of ADGEN have access to the large cohorts consisting of clinic-based AD patients and control subjects from Europe and USA. Furthermore, the molecular mechanisms of identified targets as well as their potential biomarker value in the context of AD-related pathophysiology have been elucidated from ADGEN. The overarching goal is to establish the cascade from-genes-to-function in a stepwise manner to identify novel factors that can be utilized in the risk assessment and early diagnosis and as biomarkers or new therapeutic targets.

ADGEN comprises of a case-control cohort consisting of ~1700 patients fulfilling the NINCDS-ADRDA criteria for probable AD and ~1700 cognitively healthy controls from Eastern and Northern Finland. Control subjects had no signs of dementia according to interview and neuropsychological testing. The basic clinical data as well as DNA and plasma samples are available. Ab42, t-tau, p-tau measurements from cerebrospinal fluid are available for a subset of AD patients and controls. Approximately 700 AD patients from ADGEN study are included to a whole-exome sequencing project.


University of Easter Finland (UEF): Institute of Clinical Medicine – Neurology and Institute of Biomedicine, 70211 Kuopio, Finland

Kuopio University Hospital (KUH): Department of Neurology


Principal investigators:
Mikko Hiltunen (at) uef.fi
Anne Remes (at) kuh.fi
Hilkka Soininen (at) uef.fi

Contact person:
Mikko Hiltunen (at) uef.fi

Key references:
Steinberg S, Stefansson H, Jonsson T, Johannsdottir H, Ingason A, Helgason H, Sulem P, Magnusson OT, Gudjonsson SA, Unnsteinsdottir U, Kong A, Helisalmi S,Soininen H, Lah JJ; DemGene, Aarsland D, Fladby T, Ulstein ID, Djurovic S, Sando SB, White LR, Knudsen GP, Westlye LT, Selbæk G, Giegling I, Hampel H, Hiltunen M,Levey AI, Andreassen OA, Rujescu D, Jonsson PV, Bjornsson S, Snaedal J,Stefansson K. Loss-of-function variants in ABCA7 confer risk of Alzheimer'sdisease. Nat Genet. 2015 May;47(5):445-7.

Elias-Sonnenschein LS, Helisalmi S, Natunen T, Hall A, Paajanen T, Herukka SK, Laitinen M, Remes AM, Koivisto AM, Mattila KM, Lehtimäki T, Verhey FR, Visser PJ, Soininen H, Hiltunen M. Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort. PLoS One. 2013;8(4):e59676.

Lambert JC, Heath S, Even G, Campion D, Sleegers K, Hiltunen M, Combarros O, Zelenika D, Bullido MJ, Tavernier B, Letenneur L, Bettens K, Berr C, Pasquier F, Fiévet N, Barberger-Gateau P, Engelborghs S, De Deyn P, Mateo I, Franck A, Helisalmi S, Porcellini E, Hanon O; European Alzheimer's Disease Initiative Investigators, de Pancorbo MM, Lendon C, Dufouil C, Jaillard C, Leveillard T, Alvarez V, Bosco P, Mancuso M, Panza F, Nacmias B, Bossù P, Piccardi P, Annoni G, Seripa D, Galimberti D, Hannequin D, Licastro F, Soininen H, Ritchie K, Blanché H, Dartigues JF, Tzourio C, Gut I, Van Broeckhoven C, Alpérovitch A, Lathrop M, Amouyel P. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nat Genet. 2009 Oct;41(10):1094-9.