Imperial College London


Faculty of MedicineSchool of Public Health

Reader in Cardiometabolic Disease Epidemiology



+44 (0)20 7594 3347a.dehghan CV




157Norfolk PlaceSt Mary's Campus






BibTex format

author = {Eicher, JD and Chami, N and Kacprowski, T and Nomura, A and Chen, MH and Yanek, LR and Tajuddin, SM and Schick, UM and Slater, AJ and Pankratz, N and Polfus, L and Schurmann, C and Giri, A and Brody, JA and Lange, LA and Manichaikul, A and Hill, WD and Pazoki, R and Elliot, P and Evangelou, E and Tzoulaki, I and Gao, H and Vergnaud, AC and Mathias, RA and Becker, DM and Becker, LC and Burt, A and Crosslin, DR and Lyytikäinen, LP and Nikus, K and Hernesniemi, J and Kähönen, M and Raitoharju, E and Mononen, N and Raitakari, OT and Lehtimäki, T and Cushman, M and Zakai, NA and Nickerson, DA and Raffield, LM and Quarells, R and Willer, CJ and Peloso, GM and Abecasis, GR and Liu, DJ and Global, Lipids Genetics Consortium and Deloukas, P and Samani, NJ and Schunkert, H and Erdmann, J and CARDIoGRAM, Exome Consortium and Myocardial, Infarction Genetics Consortium and Fornage, M and Richard, M and Tardif, JC and Rioux, JD and Dube, MP and de, Denus S and Lu, Y and Bottinger, EP and Loos, RJ an},
doi = {10.1016/j.ajhg.2016.05.005},
journal = {American Journal of Human Genetics},
pages = {40--55},
title = {Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals},
url = {},
volume = {99},
year = {2016}

RIS format (EndNote, RefMan)

AB - Platelet production, maintenance, and clearance are tightly controlled processes indicative of platelets' important roles in hemostasis and thrombosis. Platelets are common targets for primary and secondary prevention of several conditions. They are monitored clinically by complete blood counts, specifically with measurements of platelet count (PLT) and mean platelet volume (MPV). Identifying genetic effects on PLT and MPV can provide mechanistic insights into platelet biology and their role in disease. Therefore, we formed the Blood Cell Consortium (BCX) to perform a large-scale meta-analysis of Exomechip association results for PLT and MPV in 157,293 and 57,617 individuals, respectively. Using the low-frequency/rare coding variant-enriched Exomechip genotyping array, we sought to identify genetic variants associated with PLT and MPV. In addition to confirming 47 known PLT and 20 known MPV associations, we identified 32 PLT and 18 MPV associations not previously observed in the literature across the allele frequency spectrum, including rare large effect (FCER1A), low-frequency (IQGAP2, MAP1A, LY75), and common (ZMIZ2, SMG6, PEAR1, ARFGAP3/PACSIN2) variants. Several variants associated with PLT/MPV (PEAR1, MRVI1, PTGES3) were also associated with platelet reactivity. In concurrent BCX analyses, there was overlap of platelet-associated variants with red (MAP1A, TMPRSS6, ZMIZ2) and white (PEAR1, ZMIZ2, LY75) blood cell traits, suggesting common regulatory pathways with shared genetic architecture among these hematopoietic lineages. Our large-scale Exomechip analyses identified previously undocumented associations with platelet traits and further indicate that several complex quantitative hematological, lipid, and cardiovascular traits share genetic factors.
AU - Eicher,JD
AU - Chami,N
AU - Kacprowski,T
AU - Nomura,A
AU - Chen,MH
AU - Yanek,LR
AU - Tajuddin,SM
AU - Schick,UM
AU - Slater,AJ
AU - Pankratz,N
AU - Polfus,L
AU - Schurmann,C
AU - Giri,A
AU - Brody,JA
AU - Lange,LA
AU - Manichaikul,A
AU - Hill,WD
AU - Pazoki,R
AU - Elliot,P
AU - Evangelou,E
AU - Tzoulaki,I
AU - Gao,H
AU - Vergnaud,AC
AU - Mathias,RA
AU - Becker,DM
AU - Becker,LC
AU - Burt,A
AU - Crosslin,DR
AU - Lyytikäinen,LP
AU - Nikus,K
AU - Hernesniemi,J
AU - Kähönen,M
AU - Raitoharju,E
AU - Mononen,N
AU - Raitakari,OT
AU - Lehtimäki,T
AU - Cushman,M
AU - Zakai,NA
AU - Nickerson,DA
AU - Raffield,LM
AU - Quarells,R
AU - Willer,CJ
AU - Peloso,GM
AU - Abecasis,GR
AU - Liu,DJ
AU - Global,Lipids Genetics Consortium
AU - Deloukas,P
AU - Samani,NJ
AU - Schunkert,H
AU - Erdmann,J
AU - CARDIoGRAM,Exome Consortium
AU - Myocardial,Infarction Genetics Consortium
AU - Fornage,M
AU - Richard,M
AU - Tardif,JC
AU - Rioux,JD
AU - Dube,MP
AU - de,Denus S
AU - Lu,Y
AU - Bottinger,EP
AU - Loos,RJ
AU - Smith,AV
AU - Harris,TB
AU - Launer,LJ
AU - Gudnason,V
AU - Velez,Edwards DR
AU - Torstenson,ES
AU - Liu,Y
AU - Tracy,RP
AU - Rotter,JI
AU - Rich,SS
AU - Highland,HM
AU - Boerwinkle,E
AU - Li,J
AU - Lange,E
AU - Wilson,JG
AU - Mihailov,E
AU - Mägi,R
AU - Hirschhorn,J
AU - Metspalu,A
AU - Esko,T
AU - Vacchi-Suzzi,C
AU - Nalls,MA
AU - Zonderman,AB
AU - Evans,MK
AU - Engström,G
AU - Orho-Melander,M
AU - Melander,O
AU - O'Donoghue,ML
AU - Waterworth,DM
AU - Wallentin,L
AU - White,HD
AU - Floyd,JS
AU - Bartz,TM
AU - Rice,KM
AU - Psaty,BM
AU - Starr,JM
AU - Liewald,DC
AU - Hayward,C
AU - Deary,IJ
AU - Greinacher,A
AU - Völker,U
AU - Thiele,T
AU - Völzke,H
AU - van,Rooij FJ
AU - Uitterlinden,AG
AU - Franco,OH
AU - Dehghan,A
AU - Edwards,TL
AU - Ganesh,SK
AU - Kathiresan,S
AU - Faraday,N
AU - Auer,PL
AU - Reiner,AP
AU - Lettre,G
AU - Johnson,AD
DO - 10.1016/j.ajhg.2016.05.005
EP - 55
PY - 2016///
SN - 1537-6605
SP - 40
TI - Platelet-Related Variants Identified by Exomechip Meta-analysis in 157,293 Individuals
T2 - American Journal of Human Genetics
UR -
UR -
VL - 99
ER -