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FinnGen provides genetic insights from a well-phenotyped isolated population

Genome-wide association studies of individuals from an isolated population (data from the Finnish biobank study FinnGen) and consequent meta-analyses facilitate the identification of previously unknown coding variant associations for both rare and common diseases.

Mitja I. Kurki
Juha Karjalainen
Aarno Palotie
ResearchOpen Access18 Jan 2023
Nature

Volume: 613, P: 508-518
Correction: Corrigendum: Genome sequencing and analysis of the biomass-degrading fungus Trichoderma reesei (syn. Hypocrea jecorina)

Diego Martinez
Randy M Berka
Thomas S Brettin
Amendments and Corrections01 Oct 2008
Nature Biotechnology

Volume: 26, P: 1193
Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

A genome-wide association study identifies 17 genetic loci that are associated with the risk of myeloproliferative neoplasms (MPNs), and shows that the modulation of haematopoietic stem cell function drives MPN risk.

Erik L. Bao
Satish K. Nandakumar
Vijay G. Sankaran
Research14 Oct 2020
Nature

Volume: 586, P: 769-775
An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

Sanni E. Ruotsalainen
Juulia J. Partanen
Jukka Koskela
Research27 Oct 2020
European Journal of Human Genetics

Volume: 29, P: 309-324
DINGO: increasing the power of locus discovery in maternal and fetal genome-wide association studies of perinatal traits

Perinatal traits such as birth weight are influenced partly by indirect maternal genetic effects, i.e. mediated through the intrauterine environment. Here the authors present a method to increase the power of locus discovery in genome-wide association studies of these traits.

Liang-Dar Hwang
Gabriel Cuellar-Partida
David M. Evans
ResearchOpen Access26 Oct 2024
Nature Communications

Volume: 15, P: 1-14
Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

A genome-wide association study suggests 41 previously unreported loci on top of the 23 known loci that influence the disease risk for lumbar disc herniations. Many of these loci harbour genes implicated in disc structure and inflammation, as well as genes related to the nervous system and nerve function.

Ville Salo
Juhani Määttä
Johannes Kettunen
ResearchOpen Access07 Nov 2024
Nature Communications

Volume: 15, P: 1-14
New insights into the genetic etiology of Alzheimer’s disease and related dementias

Meta-analysis of genome-wide association studies on Alzheimer’s disease and related dementias identifies new loci and enables generation of a new genetic risk score associated with the risk of future Alzheimer’s disease and dementia.

Céline Bellenguez
Fahri Küçükali
Jean-Charles Lambert
ResearchOpen Access04 Apr 2022
Nature Genetics

Volume: 54, P: 412-436
Novel loci and biomedical consequences of iron homoeostasis variation

The largest meta-analysis of GWASs of hepcidin and sTfR identified 43 genomic loci, of which 15 new. Mendelian randomisation revealed associations of systemic iron status and iron-related loci with selected health outcomes across multiple domains.

Elias Allara
Steven Bell
Emanuele Di Angelantonio
ResearchOpen Access06 Dec 2024
Communications Biology

Volume: 7, P: 1-17
Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Mitja I. Kurki
Juha Karjalainen
Aarno Palotie
Amendments and CorrectionsOpen Access24 Feb 2023
Nature

Volume: 615, P: E19
Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

In a large and prospective cohort, higher polygenic risk is associated with higher risk and earlier age of onset for cardiometabolic disorders and cancer, and has added value to clinical risk scores in clinical disease prediction.

Nina Mars
Jukka T. Koskela
Samuli Ripatti
Research07 Apr 2020
Nature Medicine

Volume: 26, P: 549-557
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

The influence of X chromosome genetic variation on blood lipids and coronary heart disease (CHD) is not well understood. Here, the authors analyse X chromosome sequencing data across 65,322 multi-ancestry individuals, identifying associations of the Xq23 locus with lipid changes and reduced risk of CHD and diabetes mellitus.

Pradeep Natarajan
Akhil Pampana
Gina M. Peloso
ResearchOpen Access12 Apr 2021
Nature Communications

Volume: 12, P: 1-14
Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Narcolepsy has genetic and environmental risk factors, but the specific genetic risk loci and interaction with environmental triggers are not well understood. Here, the authors identify genetic loci for narcolepsy, suggesting infection as a trigger and dendritic and helper T cell involvement.

Hanna M. Ollila
Eilon Sharon
Emmanuel J. Mignot
ResearchOpen Access15 May 2023
Nature Communications

Volume: 14, P: 1-13
Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

Many genetic factors that contribute to uterine leiomyomata (UL) - the most common tumours of the female genital tract - remain to be discovered. Here, the authors conduct a UL meta-genome-wide association study, and find loci related to altered muscle tissue biology that are associated with UL.

Eeva Sliz
Jaakko S. Tyrmi
Johannes Kettunen
ResearchOpen Access01 Feb 2023
Nature Communications

Volume: 14, P: 1-14
A novel pathway for fungal D-glucuronate catabolism contains an L-idonate forming 2-keto-L-gulonate reductase

Joosu Kuivanen
Maura H. Sugai-Guérios
Peter Richard
ResearchOpen Access18 May 2016
Scientific Reports

Volume: 6, P: 1-9
The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Identifying women at high risk of breast cancer has important implications for screening. Here, the authors demonstrate that polygenic risk scores improve breast cancer risk prediction in the population, in women with mutations in high-risk genes and in women with close relatives with the disease.

Nina Mars
Elisabeth Widén
Samuli Ripatti
ResearchOpen Access14 Dec 2020
Nature Communications

Volume: 11, P: 1-9
Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

The burden of mosaic chromosomal alterations in blood-derived DNA, a type of clonal hematopoiesis, is associated with an increased risk for diverse types of infections, including sepsis and pneumonia.

Seyedeh M. Zekavat
Shu-Hong Lin
Pradeep Natarajan
Research07 Jun 2021
Nature Medicine

Volume: 27, P: 1012-1024
Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Primary open-angle glaucoma (POAG) is highly heritable, yet not well understood from a genetic perspective. Here, the authors perform a meta-analysis of genome-wide association studies in 34,179 POAG cases, identifying 44 previously unreported risk loci and mapping effects across multiple ethnicities.

Puya Gharahkhani
Eric Jorgenson
Janey L. Wiggs
ResearchOpen Access24 Feb 2021
Nature Communications

Volume: 12, P: 1-16
Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Cardiovascular diseases (CVD) are associated with plasma lipid levels. Here, Tabassum et al. perform genome-wide association studies for lipidomic profiles with 141 (non-standard) lipid species which highlights shared genetic loci with CVD and that traditional lipids have low genetic correlation with other lipids.

Rubina Tabassum
Joel T. Rämö
Samuli Ripatti
ResearchOpen Access24 Sept 2019
Nature Communications

Volume: 10, P: 1-14
Genome sequencing and analysis of the biomass-degrading fungus Trichoderma reesei (syn. Hypocrea jecorina)

Diego Martinez
Randy M Berka
Thomas S Brettin
ResearchOpen Access04 May 2008
Nature Biotechnology

Volume: 26, P: 553-560
Narcolepsy as a potential risk factor for Schizophrenia

Reyhane Eghtedarian
Anniina M. Tervi
Hanna M. Ollila
ResearchOpen Access17 Feb 2025
Translational Psychiatry

Volume: 15, P: 1-10
Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

A genome-wide association study identifies MFGE8 as protective against coronary atherosclerosis in European and East Asian populations.

Sanni E. Ruotsalainen
Ida Surakka
Samuli Ripatti
ResearchOpen Access17 Aug 2022
Communications Biology

Volume: 5, P: 1-16
Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

Max Tamlander et al. combine polygenic risk scores and clinical assessments to improve prediction of coronary artery disease and type 2 diabetes in European cohorts. Taken together, their results provide a useful method for preliminary cardiometabolic risk assessment in patients.

Max Tamlander
Nina Mars
Samuli Ripatti
ResearchOpen Access23 Feb 2022
Communications Biology

Volume: 5, P: 1-13
A FinnGen pilot clinical recall study for Alzheimer’s disease

Valtteri Julkunen
Claudia Schwarz
Heiko Runz
ResearchOpen Access03 Aug 2023
Scientific Reports

Volume: 13, P: 1-15
A consensus yeast metabolic network reconstruction obtained from a community approach to systems biology

Markus J Herrgård
Neil Swainston
Douglas B Kell
Reviews09 Oct 2008
Nature Biotechnology

Volume: 26, P: 1155-1160
Blood donor biobank as a resource in personalised biomedical genetic research

Jonna Clancy
Jarmo Ritari
Jukka Partanen
ResearchOpen Access12 Jan 2024
European Journal of Human Genetics

P: 1-9
NTHL1 is a recessive cancer susceptibility gene

Anna K. Nurmi
Liisa M. Pelttari
Heli Nevanlinna
ResearchOpen Access30 Nov 2023
Scientific Reports

Volume: 13, P: 1-14
Genome Sequencing and analyses of Two Marine Fungi from the North Sea Unraveled a Plethora of Novel Biosynthetic Gene Clusters

Abhishek Kumar
Jens Laurids Sørensen
Frank Kempken
ResearchOpen Access05 Jul 2018
Scientific Reports

Volume: 8, P: 1-16

Search

FinnGen provides genetic insights from a well-phenotyped isolated population

Correction: Corrigendum: Genome sequencing and analysis of the biomass-degrading fungus Trichoderma reesei (syn. Hypocrea jecorina)

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease

DINGO: increasing the power of locus discovery in maternal and fetal genome-wide association studies of perinatal traits

Genome-wide meta-analysis conducted in three large biobanks expands the genetic landscape of lumbar disc herniations

New insights into the genetic etiology of Alzheimer’s disease and related dementias

Novel loci and biomedical consequences of iron homoeostasis variation

Author Correction: FinnGen provides genetic insights from a well-phenotyped isolated population

Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Narcolepsy risk loci outline role of T cell autoimmunity and infectious triggers in narcolepsy

Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata

A novel pathway for fungal D-glucuronate catabolism contains an L-idonate forming 2-keto-L-gulonate reductase

The role of polygenic risk and susceptibility genes in breast cancer over the course of life

Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

Genome sequencing and analysis of the biomass-degrading fungus Trichoderma reesei (syn. Hypocrea jecorina)

Narcolepsy as a potential risk factor for Schizophrenia

Inframe insertion and splice site variants in MFGE8 associate with protection against coronary atherosclerosis

Integration of questionnaire-based risk factors improves polygenic risk scores for human coronary heart disease and type 2 diabetes

A FinnGen pilot clinical recall study for Alzheimer’s disease

A consensus yeast metabolic network reconstruction obtained from a community approach to systems biology

Blood donor biobank as a resource in personalised biomedical genetic research

NTHL1 is a recessive cancer susceptibility gene

Genome Sequencing and analyses of Two Marine Fungi from the North Sea Unraveled a Plethora of Novel Biosynthetic Gene Clusters

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