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Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits
Pankratz, Nathan1; Schick, Ursula M.2,3; Zhou, Yi4; Zhou, Wei5; Ahluwalia, Tarunveer Singh6,7; Allende, Maria Laura8; Auer, Paul L.9; Bork-Jensen, Jette6; Brody, Jennifer A.10; Chen, Ming-Huei11,12; Clavo, Vinna13,14; Eicher, John D.12,15; Grarup, Niels6; Hagedorn, Elliott J.4; Hu, Bella4; Hunker, Kristina13,14; Johnson, Andrew D.12,15; Leusink, Maarten16; Lu, Yingchang2,17; Lyytikainen, Leo-Pekka18,19; Manichaikul, Ani20; Marioni, Riccardo E.21,22,23; Nalls, Mike A.24; Pazoki, Raha25; Smith, Albert Vernon26,27; van Rooij, Frank J. A.25; Yang, Min-Lee13,14; Zhang, Xiaoling12,28; Zhang, Yan29; Asselbergs, Folkert W.30,31,32; Boerwinkle, Eric33,34; Borecki, Ingrid B.35; Bottinger, Erwin P.2; Cushman, Mary36; de Bakker, Paul I. W.37,38; Deary, Ian J.21,39; Dong, Liguang40; Feitosa, Mary F.35; Floyd, James S.10; Franceschini, Nora41; Franco, Oscar H.25; Garcia, Melissa E.42; Grove, Megan L.33; Gudnason, Vilmundur26,27; Hansen, Torben6; Harris, Tamara B.42; Hofman, Albert25,43; Jackson, Rebecca D.44; Jia, Jia29; Kahonen, Mika45,46; Launer, Lenore J.42; Lehtimaki, Terho18,19; Liewald, David C.21; Linneberg, Allan47,48,49; Liu, Yongmei50; Loos, Ruth J. F.2,17,51; Nguyen, Vy M.4; Numans, Mattijs E.38,52; Pedersen, Oluf6; Psaty, Bruce M.10,53,54,55; Raitakari, Olli T.56,57; Rich, Stephen S.20; Rivadeneira, Fernando25,58; Di Sant, Amanda M. Rosa4; Rotter, Jerome I.59,60; Starr, John M.21,61; Taylor, Kent D.59,60; Thuesen, Betina Heinsbaek47; Tracy, Russell P.63; Uitterlinden, Andre G.25,58; Wang, Jiansong64; Wang, Judy35; Dehghan, Abbas25; Huo, Yong29; Cupples, L. Adrienne12,65; Wilson, James G.66; Proia, Richard L.8; Zon, Leonard I.4; O′ Donnell, Christopher J.12,67,68; Reiner, Alex P.3,69; Ganesh, Santhi K.13,14; CHARGE Consortium Hematology
Source PublicationNATURE GENETICS
Indexed BySCI

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.

Subject Area临床医学
WOS HeadingsScience & Technology
Funding OrganizationNIDDK Division of Intramural Research ; US National Institutes of Health ; Clinical and Translational Science Institute ; Danish Heart Foundation ; Biobanking and BioMolecular resources Research Infrastructure-The Netherlands (BBMRI-NL) grant ; Health Insurance Foundation ; Academy of Finland ; US NIH ; NIH, US ; US, NIH ; NIH US
WOS Research AreaGenetics & Heredity
WOS SubjectGenetics & Heredity
WOS IDWOS:000380755100010
Citation statistics
Cited Times:22[WOS]   [WOS Record]     [Related Records in WOS]
Document Type期刊论文
Affiliation1.Steno Diabet Ctr, DK-2820 Gentofte, Denmark
2.Capital Reg Denmark, Res Ctr Prevent & Hlth, Copenhagen, Denmark
3.Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA
4.Univ Vermont, Dept Med, Div Hematol Oncol, Burlington, VT USA
5.Rigshosp, Dept Clin Expt Res, Glostrup, Denmark
6.Univ Vermont, Coll Med, Dept Biochem, Colchester, VT USA
7.Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland
8.Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA
9.Tampere Univ Hosp, Dept Clin Physiol, Tampere, Finland
10.Univ Tampere, Sch Med, Tampere, Finland
11.Grp Hlth Cooperat Puget Sound, Grp Hlth Res Inst, Seattle, WA USA
12.Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA
13.Icahn Sch Med Mt Sinai, Charles Bronfman Inst Personalized Med, New York, NY USA
14.Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA
15.Harvard Univ, Stem Cell & Regenerat Biol Dept, Cambridge, MA 02138 USA
16.Univ Michigan, Dept Computat Med & Biostat, Ann Arbor, MI 48109 USA
17.Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn Ctr Basic Metab Res, Copenhagen, Denmark
18.NIDDKD, Genet Dev & Dis Branch, US Natl Inst Hlth, Bethesda, MD USA
19.Univ Wisconsin, Sch Publ Hlth, Milwaukee, WI 53201 USA
20.Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA
21.Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA
22.NHLBI, Framingham Heart Study, Framingham, MA USA
23.Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA
24.Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA
25.NHLBI, Populat Sci Branch, Intramural Res Program, US Natl Inst Hlth, Bldg 10, Bethesda, MD 20892 USA
26.Univ Utrecht, Utrecht Inst Pharmaceut Sci, Div Pharmacoepidemiol & Clin Pharmacol, Utrecht, Netherlands
27.Icahn Sch Med Mt Sinai, Genet Obes & Related Metab Traits Program, New York, NY 10029 USA
28.Fimlab Labs, Dept Clin Chem, Tampere, Finland
29.Univ Tampere, Sch Med, Tampere, Finland
30.Univ Virginia, Ctr Publ Hlth Genom, Charlottesville, VA USA
31.Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland
32.Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Edinburgh, Midlothian, Scotland
33.Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia
34.Iceland Heart Assoc, Kopavogur, Iceland
35.Univ Iceland, Fac Med, Kopavogur, Iceland
36.Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA
37.NIA, Neurogenet Lab, US Natl Inst Hlth, Bethesda, MD 20892 USA
38.Erasmus Univ, Med Ctr, Dept Epidemiol, Rotterdam, Netherlands
39.Peking Univ, Hosp 1, Dept Cardiol, Beijing 100871, Peoples R China
40.Univ Med Ctr Utrecht, Div Heart & Lungs, Dept Cardiol, Utrecht, Netherlands
41.ICIN Netherlands Heart Inst, Durrer Ctr Cardiogenet Res, Utrecht, Netherlands
42.UCL, Fac Populat Hlth Sci, Inst Cardiovasc Sci, London, England
43.Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Ctr Human Genet, Houston, TX 77030 USA
44.Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA
45.Washington Univ, Sch Med, Dept Genet, Div Stat Genom, St Louis, MO 63110 USA
46.Univ Med Ctr Utrecht, Ctr Mol Med, Dept Med Genet, Utrecht, Netherlands
47.Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Dept Epidemiol, Utrecht, Netherlands
48.Peking Univ, Shougang Hosp, Jin Ding St Community Hlth Ctr, Beijing, Peoples R China
49.Univ N Carolina, Gillings Sch Global Publ Hlth, Chapel Hill, NC USA
50.NIA, Lab Epidemiol & Populat Sci, Intramural Res Program, US Natl Inst Hlth, Bethesda, MD 20892 USA
51.Ohio State Univ, Div Endocrinol Diabet & Metab, Columbus, OH 43210 USA
52.Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, Copenhagen, Denmark
53.Wake Forest Sch Med, Div Publ Hlth Sci, Ctr Human Genet, Winston Salem, NC USA
54.Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA
55.Leiden Univ, Med Ctr, Publ Hlth & Primary Care, Leiden, Netherlands
56.Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA
57.Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA
58.Turku Univ Hosp, Dept Clin Physiol & Nucl Med, FIN-20520 Turku, Finland
59.Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, Turku, Finland
60.Erasmus Univ, Med Ctr, Dept Internal Med, Rotterdam, Netherlands
61.Los Angeles Biomed Res Inst, Inst Translat Genom & Populat Sci, Torrance, CA USA
62.Harbor UCLA Med Ctr, Dept Pediat, Torrance, CA 90509 USA
63.Univ Edinburgh, Geriatr Med Unit, Edinburgh, Midlothian, Scotland
64.Univ Vermont, Coll Med, Dept Pathol & Lab Med, Colchester, VT USA
65.Peking Univ, Shougang Hosp, Chron Dis Res Ctr, Beijing, Peoples R China
66.Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA
67.NHLBI, Cardiovasc Epidemiol & Human Genom Branch, Intramural Res Program, US Natl Inst Hlth, Bldg 10, Bethesda, MD 20892 USA
68.Boston Vet Adm Healthcare, Dept Med, Cardiol Sect, Boston, MA USA
69.Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA
Recommended Citation
GB/T 7714
Pankratz, Nathan,Schick, Ursula M.,Zhou, Yi,et al. Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits[J]. NATURE GENETICS,2016,48(8):867-+.
APA Pankratz, Nathan.,Schick, Ursula M..,Zhou, Yi.,Zhou, Wei.,Ahluwalia, Tarunveer Singh.,...&CHARGE Consortium Hematology.(2016).Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits.NATURE GENETICS,48(8),867-+.
MLA Pankratz, Nathan,et al."Meta-analysis of rare and common exome chip variants identifies S1PR4 and other loci influencing blood cell traits".NATURE GENETICS 48.8(2016):867-+.
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