Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. / CHARGE Consortium Hematology Working Group.

In: Nature Genetics, Vol. 48, No. 8, 08.2016, p. 867-876.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

CHARGE Consortium Hematology Working Group 2016, 'Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits', Nature Genetics, vol. 48, no. 8, pp. 867-876. https://doi.org/10.1038/ng.3607

APA

CHARGE Consortium Hematology Working Group (2016). Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nature Genetics, 48(8), 867-876. https://doi.org/10.1038/ng.3607

Vancouver

CHARGE Consortium Hematology Working Group. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. Nature Genetics. 2016 Aug;48(8):867-876. https://doi.org/10.1038/ng.3607

Author

CHARGE Consortium Hematology Working Group. / Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits. In: Nature Genetics. 2016 ; Vol. 48, No. 8. pp. 867-876.

Bibtex

@article{98228613b0754ecc8fc456491cc3a9ac,
title = "Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits",
abstract = "Hematologic measures such as hematocrit and white blood cell (WBC) count are heritable and clinically relevant. We analyzed erythrocyte and WBC phenotypes in 52,531 individuals (37,775 of European ancestry, 11,589 African Americans, and 3,167 Hispanic Americans) from 16 population-based cohorts with Illumina HumanExome BeadChip genotypes. We then performed replication analyses of new discoveries in 18,018 European-American women and 5,261 Han Chinese. We identified and replicated four new erythrocyte trait-locus associations (CEP89, SHROOM3, FADS2, and APOE) and six new WBC loci for neutrophil count (S1PR4), monocyte count (BTBD8, NLRP12, and IL17RA), eosinophil count (IRF1), and total WBC count (MYB). The association of a rare missense variant in S1PR4 supports the role of sphingosine-1-phosphate signaling in leukocyte trafficking and circulating neutrophil counts. Loss-of-function experiments for S1pr4 in mouse and s1pr4 in zebrafish demonstrated phenotypes consistent with the association observed in humans and altered kinetics of neutrophil recruitment and resolution in response to tissue injury.",
author = "Nathan Pankratz and Schick, {Ursula M} and Yi Zhou and Wei-Wei Zhou and Ahluwalia, {Tarun Veer Singh} and Allende, {Maria Laura} and Auer, {Paul L} and Jette Bork-Jensen and Brody, {Jennifer A} and Ming-Huei Chen and Vinna Clavo and Eicher, {John D} and Niels Grarup and Hagedorn, {Elliott J.} and Bella Hu and Kristina Hunker and Johnson, {Andrew D} and Maarten Leusink and Yingchang Lu and Leo-Pekka Lyytikainen and Ani Manichaikul and Marioni, {Riccardo E} and Nalls, {Mike A} and Raha Pazoki and Smith, {Albert Vernon} and {van Rooij}, {Frank J A} and Min-Lee Yang and Xiaoling Zhang and Yan Zhang and Asselbergs, {Folkert W} and Eric Boerwinkle and Borecki, {Ingrid B} and Bottinger, {Erwin P} and Mary Cushman and {de Bakker}, {Paul I W} and Deary, {Ian J} and Liguang Dong and Feitosa, {Mary F} and Floyd, {James S} and Nora Franceschini and Franco, {Oscar H} and Garcia, {Melissa E} and Grove, {Megan L} and Vilmundur Gudnason and Torben Hansen and Harris, {Tamara B} and Albert Hofman and Jackson, {Rebecca D} and Allan Linneberg and Oluf Pedersen and {CHARGE Consortium Hematology Working Group}",
year = "2016",
month = aug,
doi = "10.1038/ng.3607",
language = "English",
volume = "48",
pages = "867--876",
journal = "Nature Genetics",
issn = "1061-4036",
publisher = "nature publishing group",
number = "8",

}

RIS

TY - JOUR

T1 - Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits

AU - Pankratz, Nathan

AU - Schick, Ursula M

AU - Zhou, Yi

AU - Zhou, Wei-Wei

AU - Ahluwalia, Tarun Veer Singh

AU - Allende, Maria Laura

AU - Auer, Paul L

AU - Bork-Jensen, Jette

AU - Brody, Jennifer A

AU - Chen, Ming-Huei

AU - Clavo, Vinna

AU - Eicher, John D

AU - Grarup, Niels

AU - Hagedorn, Elliott J.

AU - Hu, Bella

AU - Hunker, Kristina

AU - Johnson, Andrew D

AU - Leusink, Maarten

AU - Lu, Yingchang

AU - Lyytikainen, Leo-Pekka

AU - Manichaikul, Ani

AU - Marioni, Riccardo E

AU - Nalls, Mike A

AU - Pazoki, Raha

AU - Smith, Albert Vernon

AU - van Rooij, Frank J A

AU - Yang, Min-Lee

AU - Zhang, Xiaoling

AU - Zhang, Yan

AU - Asselbergs, Folkert W

AU - Boerwinkle, Eric

AU - Borecki, Ingrid B

AU - Bottinger, Erwin P

AU - Cushman, Mary

AU - de Bakker, Paul I W

AU - Deary, Ian J

AU - Dong, Liguang

AU - Feitosa, Mary F

AU - Floyd, James S

AU - Franceschini, Nora

AU - Franco, Oscar H

AU - Garcia, Melissa E

AU - Grove, Megan L

AU - Gudnason, Vilmundur

AU - Hansen, Torben

AU - Harris, Tamara B

AU - Hofman, Albert

AU - Jackson, Rebecca D

AU - Linneberg, Allan

AU - Pedersen, Oluf

AU - CHARGE Consortium Hematology Working Group

PY - 2016/8

Y1 - 2016/8

N2 - Hematologic measures such as hematocrit and white blood cell (WBC) count are heritable and clinically relevant. We analyzed erythrocyte and WBC phenotypes in 52,531 individuals (37,775 of European ancestry, 11,589 African Americans, and 3,167 Hispanic Americans) from 16 population-based cohorts with Illumina HumanExome BeadChip genotypes. We then performed replication analyses of new discoveries in 18,018 European-American women and 5,261 Han Chinese. We identified and replicated four new erythrocyte trait-locus associations (CEP89, SHROOM3, FADS2, and APOE) and six new WBC loci for neutrophil count (S1PR4), monocyte count (BTBD8, NLRP12, and IL17RA), eosinophil count (IRF1), and total WBC count (MYB). The association of a rare missense variant in S1PR4 supports the role of sphingosine-1-phosphate signaling in leukocyte trafficking and circulating neutrophil counts. Loss-of-function experiments for S1pr4 in mouse and s1pr4 in zebrafish demonstrated phenotypes consistent with the association observed in humans and altered kinetics of neutrophil recruitment and resolution in response to tissue injury.

AB - Hematologic measures such as hematocrit and white blood cell (WBC) count are heritable and clinically relevant. We analyzed erythrocyte and WBC phenotypes in 52,531 individuals (37,775 of European ancestry, 11,589 African Americans, and 3,167 Hispanic Americans) from 16 population-based cohorts with Illumina HumanExome BeadChip genotypes. We then performed replication analyses of new discoveries in 18,018 European-American women and 5,261 Han Chinese. We identified and replicated four new erythrocyte trait-locus associations (CEP89, SHROOM3, FADS2, and APOE) and six new WBC loci for neutrophil count (S1PR4), monocyte count (BTBD8, NLRP12, and IL17RA), eosinophil count (IRF1), and total WBC count (MYB). The association of a rare missense variant in S1PR4 supports the role of sphingosine-1-phosphate signaling in leukocyte trafficking and circulating neutrophil counts. Loss-of-function experiments for S1pr4 in mouse and s1pr4 in zebrafish demonstrated phenotypes consistent with the association observed in humans and altered kinetics of neutrophil recruitment and resolution in response to tissue injury.

U2 - 10.1038/ng.3607

DO - 10.1038/ng.3607

M3 - Journal article

C2 - 27399967

VL - 48

SP - 867

EP - 876

JO - Nature Genetics

JF - Nature Genetics

SN - 1061-4036

IS - 8

ER -

ID: 177415932