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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
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss

Aoxing Liu
Giulio Genovese
Mitchell J. Machiela
Amendments and Corrections03 Dec 2024
Nature

Volume: 636, P: E7
Genetic drivers and cellular selection of female mosaic X chromosome loss

A large-scale meta-analysis across eight biobank datasets identifies common genetic variants associated with mosaic loss of the X chromosome in female participants.

Aoxing Liu
Giulio Genovese
Mitchell J. Machiela
Research12 Jun 2024
Nature

Volume: 631, P: 134-141
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
Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Retrotransposons are usually dormant in healthy tissue, but become activated during malignancy. Here, in colorectal cancer, Cajuso et al. show that retrotransposon activity associates with clinical features of the disease.

Tatiana Cajuso
Päivi Sulo
Lauri A. Aaltonen
ResearchOpen Access06 Sept 2019
Nature Communications

Volume: 10, P: 1-9
Comprehensive metabolomic and epigenomic characterization of microsatellite stable BRAF-mutated colorectal cancer

Aurora Taira
Mervi Aavikko
Lauri A. Aaltonen
ResearchOpen Access18 Mar 2025
Oncogene

Volume: 44, P: 1718-1730
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
Contribution of allelic imbalance to colorectal cancer

In this study the authors examine the allelic imbalance (AI) landscape of colorectal cancer, reporting loss of TP53 as a driver of AI. They use CRISPR-Cas9 screens to identify 79 genes (within AI regions) regulating cell growth and identify a network of transcription factors that may contribute to colorectal tumorigenesis.

Kimmo Palin
Esa Pitkänen
Lauri A. Aaltonen
ResearchOpen Access10 Sept 2018
Nature Communications

Volume: 9, P: 1-9
Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Somatic heterozygous TET2 loss drives clonal hematopoiesis, which is linked to malignant cell degeneration and potentially cardiovascular disease. Here, the authors investigate the molecular impact of a germline TET2 mutation in a lymphoma family, finding elevated blood DNA methylation levels and no predisposition to atherosclerosis

Eevi Kaasinen
Outi Kuismin
Lauri A. Aaltonen
ResearchOpen Access19 Mar 2019
Nature Communications

Volume: 10, P: 1-17
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
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
Mutations in BRIP1 confer high risk of ovarian cancer

Using a combination of whole-genome sequencing, haplotype sharing and the genealogies of the Icelandic population, Thorunn Rafnar, Kari Stefansson and colleagues identified a rare coding mutation in the gene of a BRCA1-interacting factor, BRIP1, that confers a high relative risk of ovarian cancer.

Thorunn Rafnar
Daniel F Gudbjartsson
Kari Stefansson
Research02 Oct 2011
Nature Genetics

Volume: 43, P: 1104-1107
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
Sex-specific familial aggregation of cancers in Finland

Lauri J. Sipilä
Karri Seppä
Janne Pitkäniemi
ResearchOpen Access06 Sept 2022
Scientific Reports

Volume: 12, P: 1-9
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
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
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
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
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

Search

FinnGen provides genetic insights from a well-phenotyped isolated population

Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss

Genetic drivers and cellular selection of female mosaic X chromosome loss

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

Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Comprehensive metabolomic and epigenomic characterization of microsatellite stable BRAF-mutated colorectal cancer

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

Contribution of allelic imbalance to colorectal cancer

Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

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

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

Mutations in BRIP1 confer high risk of ovarian cancer

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

Sex-specific familial aggregation of cancers in Finland

Narcolepsy as a potential risk factor for Schizophrenia

Novel loci and biomedical consequences of iron homoeostasis variation

NTHL1 is a recessive cancer susceptibility gene

A FinnGen pilot clinical recall study for Alzheimer’s disease

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

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