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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Chauhan, Ganesh ; Adams, Hieab H.H. ; Satizabal, Claudia L. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2019

In: Neurology Vol. 92, No. 5 ( 2019-01-29)

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 92, No. 5 ( 2019-01-29)

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000006851

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XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2019

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Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function

Pattaro, Cristian ; Teumer, Alexander ; Gorski, Mathias ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Communications Vol. 7, No. 1 ( 2016-01-21)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 7, No. 1 ( 2016-01-21)

Abstract: Reduced glomerular filtration rate defines chronic kidney disease and is associated with cardiovascular and all-cause mortality. We conducted a meta-analysis of genome-wide association studies for estimated glomerular filtration rate (eGFR), combining data across 133,413 individuals with replication in up to 42,166 individuals. We identify 24 new and confirm 29 previously identified loci. Of these 53 loci, 19 associate with eGFR among individuals with diabetes. Using bioinformatics, we show that identified genes at eGFR loci are enriched for expression in kidney tissues and in pathways relevant for kidney development and transmembrane transporter activity, kidney structure, and regulation of glucose metabolism. Chromatin state mapping and DNase I hypersensitivity analyses across adult tissues demonstrate preferential mapping of associated variants to regulatory regions in kidney but not extra-renal tissues. These findings suggest that genetic determinants of eGFR are mediated largely through direct effects within the kidney and highlight important cell types and biological pathways.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/ncomms10023

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 2553671-0

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Genetic evidence of assortative mating in humans

Robinson, Matthew R. ; Kleinman, Aaron ; Graff, Mariaelisa ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Nature Human Behaviour Vol. 1, No. 1 ( 2017-01-09)

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In: Nature Human Behaviour, Springer Science and Business Media LLC, Vol. 1, No. 1 ( 2017-01-09)

Type of Medium: Online Resource

ISSN: 2397-3374

URL: Article

DOI: 10.1038/s41562-016-0016

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 2885046-4

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Stroke genetics informs drug discovery and risk prediction across ancestries

Mishra, Aniket ; Malik, Rainer ; Hachiya, Tsuyoshi ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Nature Vol. 611, No. 7934 ( 2022-11-03), p. 115-123

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In: Nature, Springer Science and Business Media LLC, Vol. 611, No. 7934 ( 2022-11-03), p. 115-123

Abstract: Previous genome-wide association studies (GWASs) of stroke — the second leading cause of death worldwide — were conducted predominantly in populations of European ancestry 1,2 . Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated ( P 〈 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis 3 , and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN ) and variants (such as at GRK5 and NOS3 ). Using a three-pronged approach 4 , we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry 5 . Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/s41586-022-05165-3

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Publisher Correction: Stroke genetics informs drug discovery and risk prediction across ancestries

Mishra, Aniket ; Malik, Rainer ; Hachiya, Tsuyoshi ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Nature Vol. 612, No. 7938 ( 2022-12-01), p. E7-E7

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In: Nature, Springer Science and Business Media LLC, Vol. 612, No. 7938 ( 2022-12-01), p. E7-E7

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/s41586-022-05492-5

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W. ; Justice, Anne E. ; Graff, Mariaelisa ; [et al.]

Public Library of Science (PLoS) ; 2016

In: PLOS Genetics Vol. 12, No. 6 ( 2016-6-29), p. e1006166-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 12, No. 6 ( 2016-6-29), p. e1006166-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1006166

DOI: 10.1371/journal.pgen.1006166.s001

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2016

detail.hit.zdb_id: 2186725-2

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The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study

Winkler, Thomas W. ; Justice, Anne E. ; Graff, Mariaelisa ; [et al.]

Public Library of Science (PLoS) ; 2015

In: PLOS Genetics Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

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In: PLOS Genetics, Public Library of Science (PLoS), Vol. 11, No. 10 ( 2015-10-1), p. e1005378-

Type of Medium: Online Resource

ISSN: 1553-7404

URL: Article

DOI: 10.1371/journal.pgen.1005378

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Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2015

detail.hit.zdb_id: 2186725-2

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Genome Analyses of 〉200,000 Individuals Identify 58 Loci for Chronic Inflammation and Highlight Pathways that Link Inflammation and Complex Disorders

Ligthart, Symen ; Vaez, Ahmad ; Võsa, Urmo ; [et al.]

Elsevier BV ; 2018

In: The American Journal of Human Genetics Vol. 103, No. 5 ( 2018-11), p. 691-706

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 103, No. 5 ( 2018-11), p. 691-706

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2018.09.009

RVK:

XA 10000

Language: English

Publisher: Elsevier BV

Publication Date: 2018

detail.hit.zdb_id: 1473813-2

SSG: 12

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Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

Malik, Rainer ; Chauhan, Ganesh ; Traylor, Matthew ; [et al.]

Springer Science and Business Media LLC ; 2018

In: Nature Genetics Vol. 50, No. 4 ( 2018-04), p. 524-537

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 50, No. 4 ( 2018-04), p. 524-537

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/s41588-018-0058-3

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2018

detail.hit.zdb_id: 1494946-5

SSG: 12

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Genetic studies of body mass index yield new insights for obesity biology

Locke, Adam E. ; The LifeLines Cohort Study ; Kahali, Bratati ; [et al.]

Springer Science and Business Media LLC ; 2015

In: Nature Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

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In: Nature, Springer Science and Business Media LLC, Vol. 518, No. 7538 ( 2015-02-12), p. 197-206

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature14177

RVK:

TA 1000

RVK:

UA 1000

RVK:

WA 15000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2015

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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hits 1 - 10 | 17 hits