Nature Search

Stroke genetics informs drug discovery and risk prediction across ancestries

A cross-ancestry meta-analysis of genome-wide association studies identifies association signals for stroke and its subtypes at 89 (61 new) independent loci, reveals putative causal genes, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as potential drug targets, and provides cross-ancestry integrative risk prediction.

Aniket Mishra
Rainer Malik
Stephanie Debette
ResearchOpen Access30 Sept 2022
Nature

Volume: 611, P: 115-123
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Multiancestry genome-wide association analyses identify new risk loci for stroke and stroke subtypes. Fine mapping and bioinformatics analyses of these risk loci point to mechanisms not previously implicated in stroke pathophysiology.

Rainer Malik
Ganesh Chauhan
Martin Dichgans
Research12 Mar 2018
Nature Genetics

Volume: 50, P: 524-537
Assessment of plasma derived microbiome profiles in lung cancer using targeted and whole exome sequencing

Vichitra Behel
Supriya Hait
Amit Dutt
ResearchOpen Access07 Jun 2025
npj Systems Biology and Applications

Volume: 11, P: 1-6
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process

Glaucoma is the most common cause of irreversible blindness worldwide. Here, the authors carry out a large meta-analysis of genetic data from individuals of European and Asian ancestry and identify 10 new loci associated with vertical cup-disc ratio, a key factor in the clinical assessment of patients with glaucoma.

Henriët. Springelkamp
René Höhn
Christopher J. Hammond
ResearchOpen Access22 Sept 2014
Nature Communications

Volume: 5, P: 1-7
Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease

Genomic analyses of large population-based cohorts uncover the genetic determinants of perivascular space burden, an MRI marker of cerebral small vessel disease, across the lifespan, and reveal potential pathways implicated in the etiology of stroke and dementia.

Marie-Gabrielle Duperron
Maria J. Knol
Stéphanie Debette
ResearchOpen Access17 Apr 2023
Nature Medicine

Volume: 29, P: 950-962
Genetic risk factors underlying white matter hyperintensities and cortical atrophy

White matter hyperintensities are linked to cortical atrophy, a key feature in dementia. Here, the authors identify loci associated with cortical atrophy related to white matter hyperintensities, which involve vascular and neuronal processes.

Yash Patel
Jean Shin
Zdenka Pausova
ResearchOpen Access04 Nov 2024
Nature Communications

Volume: 15, P: 1-11
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Reduced central corneal thickness (CCT) is observed in common eye diseases as well as in rare Mendelian disorders. Here, in a cross-ancestry GWAS, the authors identify 19 novel genetic loci associated with CCT, a subset of which is involved in rare corneal or connective tissue disorders.

Adriana I. Iglesias
Aniket Mishra
Stuart MacGregor
ResearchOpen Access14 May 2018
Nature Communications

Volume: 9, P: 1-11
Author Correction: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases

Adriana I. Iglesias
Aniket Mishra
Stuart MacGregor
Amendments and CorrectionsOpen Access08 Jan 2019
Nature Communications

Volume: 10, P: 1-3
Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults

Cortex morphology varies with age, cognitive function, and in neurological and psychiatric diseases. Here the authors report 160 genome-wide significant associations with thickness, surface area and volume of the total cortex and 34 cortical regions from a GWAS meta-analysis in 22,824 adults.

Edith Hofer
Gennady V. Roshchupkin
Sudha Seshadri
ResearchOpen Access22 Sept 2020
Nature Communications

Volume: 11, P: 1-16
Cerebral small vessel disease genomics and its implications across the lifespan

White matter hyperintensities (WMH) are a common brain-imaging feature of cerebral small vessel disease. Here, the authors carry out a GWAS and followup analyses for WMH-volume, implicating several variants with potential for risk stratification and drug targeting.

Muralidharan Sargurupremraj
Hideaki Suzuki
Stéphanie Debette
ResearchOpen Access08 Dec 2020
Nature Communications

Volume: 11, P: 1-18
Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Aniket Mishra
Rainer Malik
Stephanie Debette
Amendments and CorrectionsOpen Access14 Nov 2022
Nature

Volume: 612, P: E7
Erratum: Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Virginie J M Verhoeven
Pirro G Hysi
Christopher J Hammond
Amendments and Corrections29 May 2013
Nature Genetics

Volume: 45, P: 712
A novel nano-particle strengthened titanium alloy with exceptional specific strength

Aniket K. Dutt
Bharat Gwalani
Raymond E. Brennan
ResearchOpen Access13 Aug 2019
Scientific Reports

Volume: 9, P: 1-9
Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Rainer Malik
Ganesh Chauhan
Martin Dichgans
Amendments and Corrections03 Jun 2019
Nature Genetics

Volume: 51, P: 1192-1193
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
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia

Caroline Klaver and colleagues report a meta-analysis for refractive error and myopia, including 37,382 individuals from 27 European studies and 8,376 individuals from 5 Asian studies, as part of the Consortium for Refractive Error and Myopia (CREAM).

Virginie J M Verhoeven
Pirro G Hysi
Christopher J Hammond
Research10 Feb 2013
Nature Genetics

Volume: 45, P: 314-318
GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes

Carotid intima-media thickness (cIMT) and plaque are associated with subclinical atherosclerosis and coronary heart disease (CHD). Here, the authors identify and prioritize genetic loci for cIMT and plaque by GWAS and colocalization approaches and further demonstrate genetic correlation with CHD and stroke.

Nora Franceschini
Claudia Giambartolomei
Christopher J. O’Donnell
ResearchOpen Access03 Dec 2018
Nature Communications

Volume: 9, P: 1-14
Meta-analysis of genome-wide association studies identifies ancestry-specific associations underlying circulating total tau levels

A meta-analysis of genome-wide association studies of circulating total-tau levels identifies loci specific to European or African American ancestries, providing further insight to the genetic etiology of neurological diseases.

Chloé Sarnowski
Mohsen Ghanbari
Sudha Seshadri
ResearchOpen Access08 Apr 2022
Communications Biology

Volume: 5, P: 1-11
Genome-wide association study meta-analysis of neurofilament light (NfL) levels in blood reveals novel loci related to neurodegeneration

An ancestry-specific and trans-ethnic meta-analysis of Genome-wide Association Study of blood NfL levels identified multiple loci related to neurodegeneration and potential causal association between reduced kidney function and higher blood NfL levels.

Shahzad Ahmad
Mohammad Aslam Imtiaz
M. Arfan Ikram
ResearchOpen Access09 Sept 2024
Communications Biology

Volume: 7, P: 1-12
Diffusion imaging genomics provides novel insight into early mechanisms of cerebral small vessel disease

Quentin Le Grand
Ami Tsuchida
Stéphanie Debette
ResearchOpen Access29 May 2024
Molecular Psychiatry

Volume: 29, P: 3567-3579
Genetics of common cerebral small vessel disease

In this Review, the authors give an overview of the genetics of common small vessel disease, and provide insights into causal genes and the biological pathways involved, the overlap with monogenic small vessel disease, and the therapeutic implications of these factors.

Constance Bordes
Muralidharan Sargurupremraj
Stéphanie Debette
Reviews05 Jan 2022
Nature Reviews Neurology

Volume: 18, P: 84-101
Multi-trait genome-wide association study identifies new loci associated with optic disc parameters

The International Glaucoma Genetics Consortium reports a genome-wide association study meta-analysis of optic disc parameters relevant to primary open-angle glaucoma. They identify two novel variants in PPP1R36-PLEKHG3 and SERPINE3 by multi-trait analysis in European-ancestry cohorts that were replicated in independent Asian cohorts.

Pieter W. M. Bonnemaijer
Elisabeth M. van Leeuwen
Cornelia M. van Duijn
ResearchOpen Access27 Nov 2019
Communications Biology

Volume: 2, P: 1-12

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