
Genetics of gene regulation in disease
Leaders
We focus on the identification and molecular characterization of human genetic variation that alters the gene regulatory capacity of transcription factors and contributes to diseases with identified genetic component like type 2 diabetes or Alzheimer’s disease. Our research on the metabolic front utilizes a combination of mouse genetics and detailed genome-wide mapping of e.g. gene expression and chromatin activities at tissue and single-cell levels, with an aim to extrapolate the main findings to human metabolic genetics through conserved metabolic regulatory cascades. For neurodegenerative diseases we collaborate widely with the research teams of the UEF Neuro RC.
The identification and mechanistic characterization of new, truly causal human genetic variants in complex diseases offer tools for improved disease prediction, subtyping and personalized medicine solutions.
Funding
Academy of Finland, Finnish Diabetes Research Foundation, University of Eastern Finland
Cooperation
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University of Texas Health San Antonio
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University of Eastern Finland, Institute of Biomedicine
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University of Eastern Finland, Clinical Pathology and Forensic Medicine
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Molecular Genetics of Alzheimer's Disease 01.01.2022 -
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NPH and Early AD 01.01.2010 -
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Annakaisa Haapasalo Group (Molecular Neurodegeneration) 01.06.2015 -
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Cardiovascular Genomics (Kaikkonen lab) 01.09.2015 -
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Non-coding RNAs in Breast Cancer
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Mechanisms of cancer and metabolic disease (Levonen Lab) 01.01.2010 -
Keywords
Publications
65 items-
Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease
Selvarajan, Ilakya; Toropainen, Anu; Garske, Kristina M.; López Rodríguez, Maykel; Ko, Arthur; Miao, Zong; Kaminska, Dorota; Õunap, Kadri; Örd, Tiit; Ravindran, Aarthi; Liu, Oscar H.; Moreau, Pierre R.; Jawahar Deen, Ashik; Männistö, Ville; Pan, Calvin; Levonen, Anna-Liisa; Lusis, Aldons J.; Heikkinen, Sami; Romanoski, Casey E.; Pihlajamäki, Jussi; Pajukanta, Päivi; Kaikkonen, Minna U.. 2021. American journal of human genetics. 108: 411-430 -
Multi-ancestry genome-wide association study accounting for gene-psychosocial factor interactions identifies novel loci for blood pressure traits
Sun, Daokun; Richard, Melissa A.; Musani, Solomon K.; Sung, Yun Ju; Winkler, Thomas W.; Schwander, Karen; Chai, Jin Fang; Guo, Xiuqing; Kilpeläinen, Tuomas O.; Vojinovic, Dina; Aschard, Hugues; Bartz, Traci M.; Bielak, Lawrence F.; Brown, Michael R.; Chitrala, Kumaraswamy; Hartwig, Fernando P.; Horimoto, Andrea R.V.R.; Liu, Yongmei; Manning, Alisa K.; Noordam, Raymond et al. [incl. Heikkinen, Sami; Lakka, Timo]. 2021. HGG advances. 2: 100013 -
Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure
Wang, Heming; Noordam, Raymond; Cade, Brian E.; Schwander, Karen; Winkler, Thomas W.; Lee, Jiwon; Sung, Yun Ju; Bentley, Amy R.; Manning, Alisa K.; Aschard, Hugues; Kilpeläinen, Tuomas O.; Ilkov, Marjan; Brown, Michael R.; Horimoto, Andrea R.; Richard, Melissa; Bartz, Traci M.; Vojinovic, Dina; Lim, Elise; Nierenberg, Jovia L.; Liu, Yongmei et al. [incl. Heikkinen, Sami]. 2021. Molecular psychiatry. 26: 6293-6304 -
The debatable presence of PIWI-interacting RNAs in invasive breast cancer
Kärkkäinen, Emmi; Heikkinen, Sami; Tengström, Maria; Kosma, Veli-Matti; Mannermaa, Arto; Hartikainen, Jaana M. 2021. Cancer medicine. 10: 3593 - 3603 -
Toxicological transcriptome of human airway constructs after exposure to indoor air particulate matter: In search of relevant pathways of moisture damage-associated health effects
Nordberg, Maria-Elisa; Täubel, Martin; Heikkinen, Sami; Jalkanen, Kaisa; Köliö, Arto; Stranger, Marianne; Leppanen, Hanna; Hyvärinen, Anne; Huttunen, Kati. 2021. Environment international. 2022; 158: 106997 -
Vitamin D Treatment Sequence Is Critical for Transcriptome Modulation of Immune Challenged Primary Human Cells
Malmberg, Henna-Riikka; Hanel, Andrea; Taipale, Mari; Heikkinen, Sami; Carlberg, Carsten. 2021. Frontiers in immunology. 12: 754056 -
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci
de Las Fuentes, Lisa; Sung, Yun Ju; Noordam, Raymond; Winkler, Thomas; Feitosa, Mary F; Schwander, Karen; Bentley, Amy R; Brown, Michael R; Guo, Xiuqing; Manning, Alisa; Chasman, Daniel I; Aschard, Hugues; Bartz, Traci M; Bielak, Lawrence F; Campbell, Archie; Cheng, Ching-Yu; Dorajoo, Rajkumar; Hartwig, Fernando P; Horimoto, A R V R; Li, Changwei et al [incl. Heikkinen, Sami; Lakka, Timo]. 2020. Molecular psychiatry. 2021; 26: 2111-2125 -
MicroRNAs Associated With Biological Pathways of Left- And Right-sided Colorectal Cancer
Eneh, Stralina; Heikkinen, Sami; Hartikainen, Jaana M; Kuopio, Teijo; Mecklin, Jukka-Pekka; Kosma, Veli-Matti; Mannermaa, Arto. 2020. Anticancer research. 40: 3713-3722 -
A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure
Sung, Yun Ju; de Las Fuentes, Lisa; Winkler, Thomas W; Chasman, Daniel I; Bentley, Amy R; Kraja, Aldi T; Ntalla, Ioanna; Warren, Helen R; Guo, Xiuqing; Schwander, Karen; Manning, Alisa K; Brown, Michael R; Aschard, Hugues; Feitosa, Mary F; Franceschini, Nora; Lu, Yingchang; et al. (incl. Heikkinen, Sami; Kuusisto, Johanna; Laakso, Markku; Stancáková, Alena; Lakka, Timo A). 2019. Human molecular genetics. 28: 2615-2633 -
Abdominal adiposity and cardiometabolic risk factors in children and adolescents: a Mendelian randomization analysis
Viitasalo, A; Schnurr, TM; Pitkänen, N; Hollensted, M; Nielsen, TRH; Pahkala, K; Atalay, M; Lind, MV; Heikkinen, S; Frithioff-Bøjsøe, C; Fonvig, CE; Grarup, N; Kähönen, M; Carrasquilla, GD; Larnkjaer, A; Pedersen, O; Michaelsen, KF; Lakka, TA; Holm, JC; Lehtimäki, T; et al.. 2019. American journal of clinical nutrition. 110: 1079-1087