Nature Search

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

To better understand the etiology of frailty, the authors perform a large genetic study. They identified 45 additional variants and implicated MET, CHST9, ILRUN, APOE, CGREF1 and PPP6C as potential causal genes, linking frailty to immune regulation, metabolism and cellular signaling.

Jonathan K. L. Mak
Chenxi Qin
Juulia Jylhävä
ResearchOpen Access05 Aug 2025
Nature Aging

Volume: 5, P: 1589-1600
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
Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank

The authors report a systematic analyses of blood biomarkers for metabolism against the whole spectrum of diseases in 100,000 individuals and reveals a prominent role of numerous metabolic biomarkers as risk markers beyond heart disease and diabetes.

Heli Julkunen
Anna Cichońska
Peter Würtz
ResearchOpen Access03 Feb 2023
Nature Communications

Volume: 14, P: 1-15
Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Kristiina Avela
Marita Lipsanen-Nyman
Anna-Elina Lehesjoki
Research01 Jul 2000
Nature Genetics

Volume: 25, P: 298-301
Intranasal trimeric sherpabody inhibits SARS-CoV-2 including recent immunoevasive Omicron subvariants

Here the authors describe a small antibody-like protein that can prevent infection by diverse SARS-CoV-2 variants in cell culture and in mice that were intranasally treated with this inhibitor before or shortly after being exposed to the virus.

Anna R. Mäkelä
Hasan Uğurlu
Kalle Saksela
ResearchOpen Access24 Mar 2023
Nature Communications

Volume: 14, P: 1-12
Investigation of inter- and intraspecies variation through genome sequencing of Aspergillus section Nigri

De novo assembly of 23 Aspergillus section Nigri and 6 Aspergillus niger genome sequences allows for inter- and intraspecies comparisons and prediction of secondary metabolite gene clusters.

Tammi C. Vesth
Jane L. Nybo
Mikael R. Andersen
ResearchOpen Access22 Oct 2018
Nature Genetics

Volume: 50, P: 1688-1695
A comparative genomics study of 23 Aspergillus species from section Flavi

Aspergillus fungi classified within the section Flavi include harmful and beneficial species. Here, Kjærbølling et al. analyse the genomes of 23 Flavi species, showing high genetic diversity and potential for synthesis of over 13,700 CAZymes and 1600 secondary metabolites.

Inge Kjærbølling
Tammi Vesth
Mikael R. Andersen
ResearchOpen Access27 Feb 2020
Nature Communications

Volume: 11, P: 1-12
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
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
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
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
ECONOMICAL EFFECTS OF SURFACTANT TREATMENT

Martti Virtanen
Sonja Kuhlefelt
Anna-Liisa Järvenpää
Research01 Feb 1994
Pediatric Research

Volume: 35, P: 280
Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

Anna-Kaisa Anttonen
Eija Siintola
Anna-Elina Lehesjoki
Research20 Feb 2008
European Journal of Human Genetics

Volume: 16, P: 961-969
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
Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

Päivi Mäkelä-bengs
Anu Suomalainen
Helena Pihko
Research01 May 1995
Pediatric Research

Volume: 37, P: 634-639
Soluble Adhesion Molecules in Preclinical Type 1 Diabetes

Anna Toivonen
Petri Kulmala
Mikael Knip
Research01 Jan 2001
Pediatric Research

Volume: 49, P: 24-29
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
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
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
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
A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase

Miika Mehine
Terhi Ahvenainen
Pia Vahteristo
ResearchOpen Access07 Sept 2022
Oncogenesis

Volume: 11, P: 1-10
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
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
Elevated serum chemokine CCL22 levels in first-episode psychosis: associations with symptoms, peripheral immune state and in vivo brain glial cell function

Heikki Laurikainen
Arja Vuorela
Jaana Suvisaari
ResearchOpen Access16 Mar 2020
Translational Psychiatry

Volume: 10, P: 1-14
SDF1 gradient associates with the distribution of c-Kit+ cardiac cells in the heart

Outi Renko
Anna-Maria Tolonen
Raisa Serpi
ResearchOpen Access18 Jan 2018
Scientific Reports

Volume: 8, P: 1-11
Indoor green wall affects health-associated commensal skin microbiota and enhances immune regulation: a randomized trial among urban office workers

L. Soininen
M. I. Roslund
Aki Sinkkonen
ResearchOpen Access20 Apr 2022
Scientific Reports

Volume: 12, P: 1-9
Bone Mineral Density in Children Treated With Daily or Periodical Inhaled Budesonide: The Helsinki Early Intervention Childhood Asthma Study

Markku Turpeinen
Anna S Pelkonen
Tari Haahtela
Research01 Aug 2010
Pediatric Research

Volume: 68, P: 169-173
Genetics of dementia in a Finnish cohort

Petra Pasanen
Liisa Myllykangas
Auli Verkkoniemi-Ahola
Research23 Feb 2018
European Journal of Human Genetics

Volume: 26, P: 827-837

Search

Large-scale genome-wide analyses with proteomics integration reveal novel loci and biological insights into frailty

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

Atlas of plasma NMR biomarkers for health and disease in 118,461 individuals from the UK Biobank

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism

Intranasal trimeric sherpabody inhibits SARS-CoV-2 including recent immunoevasive Omicron subvariants

Investigation of inter- and intraspecies variation through genome sequencing of Aspergillus section Nigri

A comparative genomics study of 23 Aspergillus species from section Flavi

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

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

Inherited myeloproliferative neoplasm risk affects haematopoietic stem cells

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

ECONOMICAL EFFECTS OF SURFACTANT TREATMENT

Novel SIL1 mutations and exclusion of functional candidate genes in Marinesco–Sjögren syndrome

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

Correlation between the Clinical Symptoms and the Proportion of Mitochondrial DNA Carrying the 8993 Point Mutation in the NARP Syndrome

Soluble Adhesion Molecules in Preclinical Type 1 Diabetes

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

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

Novel loci and biomedical consequences of iron homoeostasis variation

Narcolepsy as a potential risk factor for Schizophrenia

A novel uterine leiomyoma subtype exhibits NRF2 activation and mutations in genes associated with neddylation of the Cullin 3-RING E3 ligase

NTHL1 is a recessive cancer susceptibility gene

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

Elevated serum chemokine CCL22 levels in first-episode psychosis: associations with symptoms, peripheral immune state and in vivo brain glial cell function

SDF1 gradient associates with the distribution of c-Kit+ cardiac cells in the heart

Indoor green wall affects health-associated commensal skin microbiota and enhances immune regulation: a randomized trial among urban office workers

Bone Mineral Density in Children Treated With Daily or Periodical Inhaled Budesonide: The Helsinki Early Intervention Childhood Asthma Study

Genetics of dementia in a Finnish cohort

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