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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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HSD11B1 polymorphisms predicted bone mineral density and fracture risk in postmenopausal women without a clinically apparent hypercortisolemia

Hwang, Joo-Yeon ; Lee, Seung Hun ; Kim, Ghi Su ; [et al.]

Elsevier BV ; 2009

In: Bone Vol. 45, No. 6 ( 2009-12), p. 1098-1103

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In: Bone, Elsevier BV, Vol. 45, No. 6 ( 2009-12), p. 1098-1103

Type of Medium: Online Resource

ISSN: 8756-3282

URL: Article

DOI: 10.1016/j.bone.2009.07.080

Language: English

Publisher: Elsevier BV

Publication Date: 2009

detail.hit.zdb_id: 1496324-3

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Erratum: Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Flannick, Jason ; Fuchsberger, Christian ; Mahajan, Anubha ; [et al.]

Springer Science and Business Media LLC ; 2018

In: Scientific Data Vol. 5, No. 1 ( 2018-01-23)

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In: Scientific Data, Springer Science and Business Media LLC, Vol. 5, No. 1 ( 2018-01-23)

Abstract: Scientific Data 4:170179 doi: 10.1038/sdata.2017.179 (2017); Published 19 December 2017; Updated: 23 January 2018. In both the HTML and PDF versions of this Data Descriptor, the author name Jason Flannick was incorrectly listed as Flannick Jason.

Type of Medium: Online Resource

ISSN: 2052-4463

URL: Article

DOI: 10.1038/sdata.2018.2

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2018

detail.hit.zdb_id: 2775191-0

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Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility

Mahajan, Anubha ; DIAbetes Genetics Replication And Meta-analysis (DIAGRAM) Consortium ; Go, Min Jin ; [et al.]

Springer Science and Business Media LLC ; 2014

In: Nature Genetics Vol. 46, No. 3 ( 2014-3), p. 234-244

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 46, No. 3 ( 2014-3), p. 234-244

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.2897

RVK:

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Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2014

detail.hit.zdb_id: 1494946-5

SSG: 12

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The genetic architecture of type 2 diabetes

Fuchsberger, Christian ; Flannick, Jason ; Teslovich, Tanya M. ; [et al.]

Springer Science and Business Media LLC ; 2016

In: Nature Vol. 536, No. 7614 ( 2016-08-04), p. 41-47

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In: Nature, Springer Science and Business Media LLC, Vol. 536, No. 7614 ( 2016-08-04), p. 41-47

Type of Medium: Online Resource

ISSN: 0028-0836 , 1476-4687

URL: Article

DOI: 10.1038/nature18642

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Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2016

detail.hit.zdb_id: 120714-3

detail.hit.zdb_id: 1413423-8

SSG: 11

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Genome-wide Association Analysis of Blood-Pressure Traits in African-Ancestry Individuals Reveals Common Associated Genes in African and Non-African Populations

Franceschini, Nora ; Fox, Ervin ; Zhang, Zhaogong ; [et al.]

Elsevier BV ; 2013

In: The American Journal of Human Genetics Vol. 93, No. 3 ( 2013-09), p. 545-554

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In: The American Journal of Human Genetics, Elsevier BV, Vol. 93, No. 3 ( 2013-09), p. 545-554

Type of Medium: Online Resource

ISSN: 0002-9297

URL: Article

DOI: 10.1016/j.ajhg.2013.07.010

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Language: English

Publisher: Elsevier BV

Publication Date: 2013

detail.hit.zdb_id: 1473813-2

SSG: 12

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A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study

Kim, Hyung-cheol ; Lee, Ji-Young ; Sung, Hyuna ; [et al.]

Springer Science and Business Media LLC ; 2012

In: Breast Cancer Research Vol. 14, No. 2 ( 2012-4)

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In: Breast Cancer Research, Springer Science and Business Media LLC, Vol. 14, No. 2 ( 2012-4)

Type of Medium: Online Resource

ISSN: 1465-542X

URL: Article

DOI: 10.1186/bcr3158

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2012

detail.hit.zdb_id: 2041618-0

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Genome-wide Association Study Identification of a New Genetic Locus with Susceptibility to Osteoporotic Fracture in the Korean Population

Hwang, Joo-Yeon ; Lee, Seung-Hun ; Go, Min-Jin ; [et al.]

Korea Genome Organization ; 2011

In: Genomics & Informatics Vol. 9, No. 2 ( 2011-06-30), p. 52-58

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In: Genomics & Informatics, Korea Genome Organization, Vol. 9, No. 2 ( 2011-06-30), p. 52-58

Type of Medium: Online Resource

ISSN: 1598-866X

URL: Article

DOI: 10.5808/GI.2011.9.2.52

Language: English

Publisher: Korea Genome Organization

Publication Date: 2011

detail.hit.zdb_id: 2802682-2

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Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index

Wen, Wanqing ; Zheng, Wei ; Okada, Yukinori ; [et al.]

Oxford University Press (OUP) ; 2014

In: Human Molecular Genetics Vol. 23, No. 20 ( 2014-10-15), p. 5492-5504

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In: Human Molecular Genetics, Oxford University Press (OUP), Vol. 23, No. 20 ( 2014-10-15), p. 5492-5504

Type of Medium: Online Resource

ISSN: 0964-6906 , 1460-2083

URL: Article

DOI: 10.1093/hmg/ddu248

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Language: English

Publisher: Oxford University Press (OUP)

Publication Date: 2014

detail.hit.zdb_id: 1474816-2

SSG: 12

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Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis

Wheeler, Eleanor ; Leong, Aaron ; Liu, Ching-Ti ; [et al.]

Public Library of Science (PLoS) ; 2017

In: PLOS Medicine Vol. 14, No. 9 ( 2017-9-12), p. e1002383-

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In: PLOS Medicine, Public Library of Science (PLoS), Vol. 14, No. 9 ( 2017-9-12), p. e1002383-

Type of Medium: Online Resource

ISSN: 1549-1676

URL: Article

DOI: 10.1371/journal.pmed.1002383

DOI: 10.1371/journal.pmed.1002383.g001

DOI: 10.1371/journal.pmed.1002383.g002

DOI: 10.1371/journal.pmed.1002383.g003

DOI: 10.1371/journal.pmed.1002383.g004

DOI: 10.1371/journal.pmed.1002383.g005

DOI: 10.1371/journal.pmed.1002383.t001

DOI: 10.1371/journal.pmed.1002383.t002

DOI: 10.1371/journal.pmed.1002383.s001

DOI: 10.1371/journal.pmed.1002383.s002

DOI: 10.1371/journal.pmed.1002383.s003

DOI: 10.1371/journal.pmed.1002383.s004

DOI: 10.1371/journal.pmed.1002383.s005

DOI: 10.1371/journal.pmed.1002383.s006

DOI: 10.1371/journal.pmed.1002383.s007

DOI: 10.1371/journal.pmed.1002383.s008

DOI: 10.1371/journal.pmed.1002383.s009

DOI: 10.1371/journal.pmed.1002383.s010

DOI: 10.1371/journal.pmed.1002383.s011

DOI: 10.1371/journal.pmed.1002383.s012

DOI: 10.1371/journal.pmed.1002383.s013

DOI: 10.1371/journal.pmed.1002383.s014

DOI: 10.1371/journal.pmed.1002383.s015

DOI: 10.1371/journal.pmed.1002383.s016

DOI: 10.1371/journal.pmed.1002383.s017

DOI: 10.1371/journal.pmed.1002383.s018

DOI: 10.1371/journal.pmed.1002383.s019

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2017

detail.hit.zdb_id: 2164823-2

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