ProfessorAbbasDehghan

Ling Y, van Herpt TTW, van Hoek M, Dehghan A, Hofman A, Uitterlinden AG, Jiang S, Lieverse AG, Bravenboer B, Lu D, van Duijn CM, Gao X, Sijbrands EJGet al., 2014, A genetic variant in <i>SLC6A20</i> is associated with Type 2 diabetes in white-European and Chinese populations, DIABETIC MEDICINE, Vol: 31, Pages: 1350-1356, ISSN: 0742-3071

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• Citations: 5

Guigas B, van Weenen JEDL, van Leeuwen N, Simonis-Bik AM, van Haeften TW, Nijpels G, Houwing-Duistermaat JJ, Beekman M, Deelen J, Havekes LM, Penninx BWJH, Vogelzangs N, van 't Riet E, Dehghan A, Hofman A, Witteman JC, Uitterlinden AG, Grarup N, Jorgensen T, Witte DR, Lauritzen T, Hansen T, Pedersen O, Hottenga J, Romijn JA, Diamant M, Kramer MHH, Heine RJ, Willemsen G, Dekker JM, Eekhoff EM, Pijl H, de Geus EJ, Slagboom PE, 't Hart LMet al., 2014, Sex-specific effects of naturally occurring variants in the dopamine receptor D2 locus on insulin secretion and Type 2 diabetes susceptibility, DIABETIC MEDICINE, Vol: 31, Pages: 1001-1008, ISSN: 0742-3071

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• Citations: 12

Ganesh SK, Chasman DI, Larson MG, Guo X, Verwoert G, Bis JC, Gu X, Smith AV, Yang M-L, Zhang Y, Ehret G, Rose LM, Hwang S-J, Papanicolau GJ, Sijbrands EJ, Rice K, Eiriksdottir G, Pihur V, Ridker PM, Vasan RS, Newton-Cheh C, Raffel LJ, Amin N, Rotter JI, Liu K, Launer LJ, Xu M, Caulfield M, Morrison AC, Johnson AD, Vaidya D, Dehghan A, Li G, Bouchard C, Harris TB, Zhang H, Boerwinkle E, Siscovick DS, Gao W, Uitterlinden AG, Rivadeneira F, Hofman A, Willer CJ, Franco OH, Huo Y, Witteman JCM, Munroe PB, Gudnason V, Palmas W, van Duijn C, Fornage M, Levy D, Psaty BM, Chakravarti Aet al., 2014, Effects of Long-Term Averaging of Quantitative Blood Pressure Traits on the Detection of Genetic Associations, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 95, Pages: 49-65, ISSN: 0002-9297

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• Citations: 55

Simino J, Shi G, Bis JC, Chasman DI, Ehret GB, Gu X, Guo X, Hwang S-J, Sijbrands E, Smith AV, Verwoert GC, Bragg-Gresham JL, Cadby G, Chen P, Cheng C-Y, Corre T, de Boer RA, Goel A, Johnson T, Khor C-C, Lluis-Ganella C, Luan J, Lyytikainen L-P, Nolte IM, Sim X, Sober S, van der Most PJ, Verweij N, Zhao JH, Amin N, Boerwinkle E, Bouchard C, Dehghan A, Eiriksdottir G, Elosua R, Franco OH, Gieger C, Harris TB, Hercberg S, Hofman A, James AL, Johnson AD, Kahonen M, Khaw K-T, Kutalik Z, Larson MG, Launer LJ, Li G, Liu J, Liu K, Morrison AC, Navis G, Ong RT-H, Papanicolau GJ, Penninx BW, Psaty BM, Raffel LJ, Raitakari OT, Rice K, Rivadeneira F, Rose LM, Sanna S, Scott RA, Siscovick DS, Stolk RP, Uitterlinden AG, Vaidya D, van der Klauw MM, Vasan RS, Vithana EN, Voelker U, Voelzke H, Watkins H, Young TL, Aung T, Bochud M, Farrall M, Hartman CA, Laan M, Lakatta EG, Lehtimaki T, Loos RJF, Lucas G, Meneton P, Palmer LJ, Rettig R, Snieder H, Tai ES, Teo Y-Y, van der Harst P, Wareham NJ, Wijmenga C, Wong TY, Fornage M, Gudnason V, Levy D, Palmas W, Ridker PM, Rotter JI, van Duijn CM, Witteman JCM, Chakravarti A, Rao DCet al., 2014, Gene-Age Interactions in Blood Pressure Regulation: A Large-Scale Investigation with the CHARGE, Global BPgen, and ICBP Consortia, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 95, Pages: 24-38, ISSN: 0002-9297

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• Citations: 80

Holmes MV, Dale CE, Zuccolo L, Silverwood RJ, Guo Y, Ye Z, Prieto-Merino D, Dehghan A, Trompet S, Wong A, Cavadino A, Drogan D, Padmanabhan S, Li S, Yesupriya A, Leusink M, Sundstrom J, Hubacek JA, Pikhart H, Swerdlow DI, Panayiotou AG, Borinskaya SA, Finan C, Shah S, Kuchenbaecker KB, Shah T, Engmann J, Folkersen L, Eriksson P, Ricceri F, Melander O, Sacerdote C, Gamble DM, Rayaprolu S, Ross OA, McLachlan S, Vikhireva O, Sluijs I, Scott RA, Adamkova V, Flicker L, Van Bockxmeer FM, Power C, Marques-Vidal P, Meade T, Marmot MG, Ferro JM, Paulos-Pinheiro S, Humphries SE, Talmud PJ, Leach IM, Verweij N, Linneberg A, Skaaby T, Doevendans PA, Cramer MJ, Van der Harst P, Klungel OH, Dowling NF, Dominiczak AF, Kumari M, Nicolaides AN, Weikert C, Boeing H, Ebrahim S, Gaunt TR, Price JF, Lannfelt L, Peasey A, Kubinova R, Pajak A, Malyutina S, Voevoda MI, Tamosiunas A, Maitland-van der Zee AH, Norman PE, Hankey GJ, Bergmann MM, Hofman A, Franco OH, Cooper J, Palmen J, Spiering W, de Jong PA, Kuh D, Hardy R, Uitterlinden AG, Ikram MA, Ford I, Hyppoenen E, Almeida OP, Wareham NJ, Khaw K-T, Hamsten A, Husemoen LLN, Tjonneland A, Tolstrup JS, Rimm E, Beulens JWJ, Verschuren WMM, Onland-Moret NC, Hofker MH, Wannamethee SG, Whincup PH, Morris R, Vicente AM, Watkins H, Farrall M, Jukema JW, Meschia J, Cupples LA, Sharp SJ, Fornage M, Kooperberg C, LaCroix AZ, Dai JY, Lanktree MB, Siscovick DS, Jorgenson E, Spring B, Coresh J, Li YR, Buxbaum SG, Schreiner PJ, Ellison RC, Tsai MY, Patel SR, Redline S, Johnson AD, Hoogeveen RC, Rotter JI, Boerwinkle E, de Bakker PIW, Kivimaki M, Asselbergs FW, Sattar N, Lawlor DA, Whittaker J, Smith GD, Mukamal K, Psaty BM, Wilson JG, Lange LA, Hamidovic A, Hingorani AD, Nordestgaard BG, Bobak M, Leon DA, Langenberg C, Palmer TM, Reiner AP, Keating BJ, Dudbridge F, Casas JPet al., 2014, Association between alcohol and cardiovascular disease: Mendelian randomisation analysis based on individual participant data, BMJ-BRITISH MEDICAL JOURNAL, Vol: 349, ISSN: 0959-535X

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• Citations: 427

Strawbridge RJ, Deleskog A, McLeod O, Folkersen L, Kavousi M, Gertow K, Baldassarre D, Veglia F, Leander K, Gigante B, Kauhanen J, Rauramaa R, Smit AJ, Mannarino E, Giral P, Dehghan A, Hofman A, Franco OH, Humphries SE, Tremoli E, de Faire U, Gustafsson S, Ostensson C-G, Eriksson P, Ohrvik J, Hamsten Aet al., 2014, A serum 25-hydroxyvitamin D concentration-associated genetic variant in <i>DHCR7</i> interacts with type 2 diabetes status to influence subclinical atherosclerosis (measured by carotid intima-media thickness), DIABETOLOGIA, Vol: 57, Pages: 1159-1172, ISSN: 0012-186X

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• Citations: 26

Kraja AT, Chasman DI, North KE, Reiner AP, Yanek LR, Kilpelainen TO, Smith JA, Dehghan A, Dupuis J, Johnson AD, Feitosa MF, Tekola-Ayele F, Chu AY, Nolte IM, Dastani Z, Morris A, Pendergrass SA, Sun YV, Ritchie MD, Vaez A, Lin H, Ligthart S, Marullo L, Rohde R, Shao Y, Ziegler MA, Im HK, Schnabel RB, Jorgensen T, Jorgensen ME, Hansen T, Pedersen O, Stolk RP, Snieder H, Hofman A, Uitterlinden AG, Franco OH, Ikram MA, Richards JB, Rotimi C, Wilson JG, Lange L, Ganesh SK, Nalls M, Rasmussen-Torvik LJ, Pankow JS, Coresh J, Tang W, Kao WHL, Boerwinkle E, Morrison AC, Ridker PM, Becker DM, Rotter JI, Kardia SLR, Loos RJF, Larson MG, Hsu Y-H, Province MA, Tracy R, Voight BF, Vaidya D, O'Donnell CJ, Benjamin EJ, Alizadeh BZ, Prokopenko I, Meigs JB, Borecki IBet al., 2014, Pleiotropic genes for metabolic syndrome and inflammation, Molecular Genetics and Metabolism, Vol: 112, Pages: 317-338, ISSN: 1096-7206

Metabolic syndrome (MetS) has become a health and financial burden worldwide. The MetS definition captures clustering of risk factors that predict higher risk for diabetes mellitus and cardiovascular disease. Our study hypothesis is that additional to genes influencing individual MetS risk factors, genetic variants exist that influence MetS and inflammatory markers forming a predisposing MetS genetic network. To test this hypothesis a staged approach was undertaken. (a) We analyzed 17 metabolic and inflammatory traits in more than 85,500 participants from 14 large epidemiological studies within the Cross Consortia Pleiotropy Group. Individuals classified with MetS (NCEP definition), versus those without, showed on average significantly different levels for most inflammatory markers studied. (b) Paired average correlations between 8 metabolic traits and 9 inflammatory markers from the same studies as above, estimated with two methods, and factor analyses on large simulated data, helped in identifying 8 combinations of traits for follow-up in meta-analyses, out of 130,305 possible combinations between metabolic traits and inflammatory markers studied. (c) We performed correlated meta-analyses for 8 metabolic traits and 6 inflammatory markers by using existing GWAS published genetic summary results, with about 2.5 million SNPs from twelve predominantly largest GWAS consortia. These analyses yielded 130 unique SNPs/genes with pleiotropic associations (a SNP/gene associating at least one metabolic trait and one inflammatory marker). Of them twenty-five variants (seven loci newly reported) are proposed as MetS candidates. They map to genes MACF1, KIAA0754, GCKR, GRB14, COBLL1, LOC646736-IRS1, SLC39A8, NELFE, SKIV2L, STK19, TFAP2B, BAZ1B, BCL7B, TBL2, MLXIPL, LPL, TRIB1, ATXN2, HECTD4, PTPN11, ZNF664, PDXDC1, FTO, MC4R and TOMM40. Based on large data evidence, we conclude that inflammation is a feature of MetS and several gene variants show pleiotropic genetic associations

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Huang J, Huffman JE, Yamkauchi M, Trompet S, Asselbergs FW, Sabater-Lleal M, Tregouet D-A, Chen W-M, Smith NL, Kleber ME, Shin S-Y, Becker DM, Tang W, Dehghan A, Johnson AD, Vinh T, Folkersen L, Yang Q, Oudot-Mellkah T, Buckley BM, Moore JH, Williams FMK, Campbell H, Silbernagel G, Vitart V, Rudan I, Tofler GH, Navis GJ, DeStefano A, Wright AF, Chen M-H, de Craen AJM, Worrall BB, Rudnicka AR, Rumley A, Bookman EB, Psaty BM, Chen F, Keene KL, Franco OH, Boehm BO, Uitterlinden AG, Carter AM, Jukema JW, Sattar N, Bis JC, Ikram MA, Sale MM, McKnight B, Fornage M, Ford I, Taylor K, Slagboom PE, McArdle WL, Hsu F-C, Franco-Cereceda A, Goodall AH, Yanek LR, Furie KL, Cushman M, Hofman A, Witteman JCM, Folsom AR, Basu S, Matijevic N, van Gilst WH, Wilson JF, Westendorp RGJ, Kathiresan S, Reilly MP, Tracy RP, Polasek O, Winkelmann BR, Grant PJ, Hillege HL, Cambien F, Stott DJ, Lowe GD, Spector TD, Meigs JB, Marz W, Eriksson P, Becker LC, Morange P-E, Soranzo N, Williams SM, Hayward C, van der Harst P, Hamsten A, Lowenstein CJ, Strachan DP, O'Donnell CJet al., 2014, Genome-Wide Association Study for Circulating Tissue Plasminogen Activator Levels and Functional Follow-Up Implicates Endothelial STXBP5 and STX2, ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, Vol: 34, Pages: 1093-1101, ISSN: 1079-5642

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• Citations: 31

Oei L, Campos-Obando N, Dehghan A, Oei EHG, Stolk L, van Meurs JBJ, Hofman A, Uitterlinden AG, Franco OH, Zillikens MC, Rivadeneira Fet al., 2014, Dissecting the relationship between high-sensitivity serum C-reactive protein and increased fracture risk: the Rotterdam Study, OSTEOPOROSIS INTERNATIONAL, Vol: 25, Pages: 1247-1254, ISSN: 0937-941X

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• Citations: 31

Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, Brody JA, Khetarpal SA, Crosby JR, Fomage M, Isaacs A, Jakobsdottir J, Feitosa MF, Davies G, Huffman JE, Manichaikul A, Davis B, Lohman K, Joon AY, Smith AV, Grove ML, Zanoni P, Redon V, Demissie S, Lawson K, Peters U, Carlson C, Jackson RD, Ryckman KK, Mackey RH, Robinson JG, Siscovick DS, Schreiner PJ, Mychaleckyj JC, Pankow JS, Holman A, Uitterlinden AG, Harris TB, Taylor KD, Stafford JM, Reynolds LM, Marioni RE, Dehghan A, Franco OH, Patele AP, Lu Y, Hindy G, Gottesman O, Bottinger EP, Melander O, Orho-Melander M, Loos RJF, Duga S, Merlini PA, Farrall M, Goel A, Asselta R, Girelli D, Martinelli N, Shah SH, Kraus WE, Li M, Rader DJ, Reilly MP, McPherson R, Watkins H, Ardissino D, Zhang Q, Wang J, Tsai MY, Taylor HA, Correa A, Griswold ME, Lange LA, Starr JM, Rudan I, Eiriksdottir G, Launer LJ, Ordovas JM, Levy D, Chen Y-DI, Reiner AP, Hayward C, Polasek O, Deary IJ, Borecki IB, Liu Y, Gudnason V, Wilson JG, van Duijn CM, Kooperberg C, Rich SS, Psaty BM, Rotter JI, O'Donnell CJ, Rice K, Boerwinkle E, Kathiresan S, Cupples LAet al., 2014, Association of Low-Frequency and Rare Coding-Sequence Variants with Blood Lipids and Coronary Heart Disease in 56,000 Whites and Blacks, AMERICAN JOURNAL OF HUMAN GENETICS, Vol: 94, Pages: 223-232, ISSN: 0002-9297

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• Citations: 241

Ibrahim-Verbaas CA, Fornage M, Bis JC, Choi SH, Psaty BM, Meigs JB, Rao M, Nalls M, Fontes JD, O'Donnell CJ, Kathiresan S, Ehret GB, Fox CS, Malik R, Dichgans M, Schmidt H, Lahti J, Heckbert SR, Lumley T, Rice K, Rotter JI, Taylor KD, Folsom AR, Boerwinkle E, Rosamond WD, Shahar E, Gottesman RF, Koudstaal PJ, Amin N, Wieberdink RG, Dehghan A, Hofman A, Uitterlinden AG, DeStefano AL, Debette S, Xue L, Beiser A, Wolf PA, DeCarli C, Ikram MA, Seshadri S, Mosley TH, Longstreth WT, van Duijn CM, Launer LJet al., 2014, Predicting Stroke Through Genetic Risk Functions The CHARGE Risk Score Project, STROKE, Vol: 45, Pages: 403-412, ISSN: 0039-2499

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• Citations: 51

Dehghan A, Leening MJG, Solouki AM, Boersma E, Deckers JW, van Herpen G, Heeringa J, Hofman A, Kors JA, Franco OH, Ikram MA, Witteman JCMet al., 2014, Comparison of Prognosis in Unrecognized Versus Recognized Myocardial Infarction in Men Versus Women > 55 Years of Age (from the Rotterdam Study), AMERICAN JOURNAL OF CARDIOLOGY, Vol: 113, Pages: 1-6, ISSN: 0002-9149

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Parsa A, Fuchsberger C, Koettgen A, O'Seaghdha CM, Pattaro C, de Andrade M, Chasman DI, Teumer A, Endlich K, Olden M, Chen M-H, Tin A, Kim YJ, Taliun D, Li M, Feitosa M, Gorski M, Yang Q, Hundertmark C, Foster MC, Glazer N, Isaacs A, Rao M, Smith AV, O'Connell JR, Struchalin M, Tanaka T, Li G, Hwang S-J, Atkinson EJ, Lohman K, Cornelis MC, Johansson A, Toenjes A, Dehghan A, Couraki V, Holliday EG, Sorice R, Kutalik Z, Lehtimaeki T, Esko T, Deshmukh H, Ulivi S, Chu AY, Murgia F, Trompet S, Imboden M, Kollerits B, Pistis G, Harris TB, Launer LJ, Aspelund T, Eiriksdottir G, Mitchell BD, Boerwinkle E, Schmidt H, Hofer E, Hu F, Demirkan A, Oostra BA, Turner ST, Ding J, Andrews JS, Freedman BI, Giulianini F, Koenig W, Illig T, Doering A, Wichmann H-E, Zgaga L, Zemunik T, Boban M, Minelli C, Wheeler HE, Igl W, Zaboli G, Wild SH, Wright AF, Campbell H, Ellinghaus D, Noethlings U, Jacobs G, Biffar R, Ernst F, Homuth G, Kroemer HK, Nauck M, Stracke S, Voelker U, Voelzke H, Kovacs P, Stumvoll M, Maegi R, Hofman A, Uitterlinden AG, Rivadeneira F, Aulchenko YS, Polasek O, Hastie N, Vitart V, Helmer C, Wang JJ, Stengel B, Ruggiero D, Bergmann S, Kaehoenen M, Viikari J, Nikopensius T, Province M, Colhoun H, Doney A, Robino A, Kraemer BK, Portas L, Ford I, Buckley BM, Adam M, Thun G-A, Paulweber B, Haun M, Sala C, Mitchell P, Ciullo M, Vollenweider P, Raitakari O, Metspalu A, Palmer C, Gasparini P, Pirastu M, Jukema JW, Probst-Hensch NM, Kronenberg F, Toniolo D, Gudnason V, Shuldiner AR, Coresh J, Schmidt R, Ferrucci L, Van Duijn CM, Borecki I, Kardia SLR, Liu Y, Curhan GC, Rudan I, Gyllensten U, Wilson JF, Franke A, Pramstaller PP, Rettig R, Prokopenko I, Witteman J, Hayward C, Ridker PM, Bochud M, Heid IM, Siscovick DS, Fox CS, Kao WL, Boeger CAet al., 2013, Common Variants in Mendelian Kidney Disease Genes and Their Association with Renal Function, JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY, Vol: 24, Pages: 2105-2117, ISSN: 1046-6673

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• Citations: 27

Holmes MV, Simon T, Exeter HJ, Folkersen L, Asselbergs FW, Guardiola M, Cooper JA, Palmen J, Hubacek JA, Carruthers KF, Horne BD, Brunisholz KD, Mega JL, Van Iperen EPA, Li M, Leusink M, Trompet S, Verschuren JJW, Hovingh GK, Dehghan A, Nelson CP, Kotti S, Danchin N, Scholz M, Haase CL, Rothenbacher D, Swerdlow DI, Kuchenbaecker KB, Staines-Urias E, Goel A, van 't Hooft F, Gertow K, de Faire U, Panayiotou AG, Tremoli E, Baldassarre D, Veglia F, Holdt LM, Beutner F, Gansevoort RT, Navis GJ, Leach IM, Breitling LP, Brenner H, Thiery J, Dallmeier D, Franco-Cereceda A, Boer JMA, Stephens JW, Hofker MH, Tedgui A, Hofman A, Uitterlinden AG, Adamkova V, Pitha J, Onland-Moret NC, Cramer MJ, Nathoe HM, Spiering W, Klungel OH, Kumari M, Whincup PH, Morrow DA, Braund PS, Hall AS, Olsson AG, Doevendans PA, Trip MD, Tobin MD, Hamsten A, Watkins H, Koenig W, Nicolaides AN, Teupser D, Day INM, Carlquist JF, Gaunt TR, Ford I, Sattar N, Tsimikas S, Schwartz GG, Lawlor DA, Morris RW, Sandhu MS, Poledne R, Maitland-van der Zee AH, Khaw K-T, Keating BJ, van der Harst P, Price JF, Mehta SR, Yusuf S, Witteman JCM, Franco OH, Jukema JW, de Knijff P, Tybjaerg-Hansen A, Rader DJ, Farrall M, Samani NJ, Kivimaki M, Fox KAA, Humphries SE, Anderson JL, Boekholdt SM, Palmer TM, Eriksson P, Pare G, Hingorani AD, Sabatine MS, Mallat Z, Casas JP, Talmud PJet al., 2013, Secretory Phospholipase A₂-IIA and Cardiovascular Disease, JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, Vol: 62, Pages: 1966-1976, ISSN: 0735-1097

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• Citations: 91

Sedaghat S, Hoorn EJ, van Rooij FJA, Hofman A, Franco OH, Witteman JCM, Dehghan Aet al., 2013, Serum Uric Acid and Chronic Kidney Disease: The Role of Hypertension, PLOS ONE, Vol: 8, ISSN: 1932-6203

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• Citations: 43

Evans DM, Brion MJA, Paternoster L, Kemp JP, McMahon G, Munafo M, Whitfield JB, Medland SE, Montgomery GW, Timpson NJ, St Pourcain B, Lawlor DA, Martin NG, Dehghan A, Hirschhorn J, Smith GDet al., 2013, Mining the Human Phenome Using Allelic Scores That Index Biological Intermediates, PLOS GENETICS, Vol: 9, ISSN: 1553-7404

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• Citations: 49

Ho JE, Chen W-Y, Chen M-H, Larson MG, McCabe EL, Cheng S, Ghorbani A, Coglianese E, Emilsson V, Johnson AD, Walter S, Franceschini N, O'Donnell CJ, Dehghan A, Lu C, Levy D, Newton-Cheh C, Lin H, Felix JF, Schreiter ER, Vasan RS, Januzzi JL, Lee RT, Wang TJet al., 2013, Common genetic variation at the <i>IL1RL1</i> locus regulates IL-33/ST2 signaling, JOURNAL OF CLINICAL INVESTIGATION, Vol: 123, Pages: 4208-4218, ISSN: 0021-9738

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• Citations: 90

O'Seaghdha CM, Wu H, Yang Q, Kapur K, Guessous I, Zuber AM, Koettgen A, Stoudmann C, Teumer A, Kutalik Z, Mangino M, Dehghan A, Zhang W, Eiriksdottir G, Li G, Tanaka T, Portas L, Lopez LM, Hayward C, Lohman K, Matsuda K, Padmanabhan S, Firsov D, Sorice R, Ulivi S, Brockhaus AC, Kleber ME, Mahajan A, Ernst FD, Gudnason V, Launer LJ, Mace A, Boerwinckle E, Arking DE, Tanikawa C, Nakamura Y, Brown MJ, Gaspoz J-M, Theler J-M, Siscovick DS, Psaty BM, Bergmann S, Vollenweider P, Vitart V, Wright AF, Zemunik T, Boban M, Kolcic I, Navarro P, Brown EM, Estrada K, Ding J, Harris TB, Bandinelli S, Hernandez D, Singleton AB, Girotto G, Ruggiero D, d'Adamo AP, Robino A, Meitinger T, Meisinger C, Davies G, Starr JM, Chambers JC, Boehm BO, Winkelmann BR, Huang J, Murgia F, Wild SH, Campbell H, Morris AP, Franco OH, Hofman A, Uitterlinden AG, Rivadeneira F, Voelker U, Hannemann A, Biffar R, Hoffmann W, Shin S-Y, Lescuyer P, Henry H, Schurmann C, Munroe PB, Gasparini P, Pirastu N, Ciullo M, Gieger C, Maerz W, Lind L, Spector TD, Smith AV, Rudan I, Wilson JF, Polasek O, Deary IJ, Pirastu M, Ferrucci L, Liu Y, Kestenbaum B, Kooner JS, Witteman JCM, Nauck M, Kao WHL, Wallaschofski H, Bonny O, Fox CS, Bochud Met al., 2013, Meta-analysis of genome-wide association studies identifies six new loci for serum calcium concentrations, PLoS Genetics, Vol: 9, Pages: 1-13, ISSN: 1553-7390

Calcium is vital to the normal functioning of multiple organ systems and its serum concentration is tightly regulated. Apart from CASR, the genes associated with serum calcium are largely unknown. We conducted a genome-wide association meta-analysis of 39,400 individuals from 17 population-based cohorts and investigated the 14 most strongly associated loci in ≤21,679 additional individuals. Seven loci (six new regions) in association with serum calcium were identified and replicated. Rs1570669 near CYP24A1 (P = 9.1E-12), rs10491003 upstream of GATA3 (P = 4.8E-09) and rs7481584 in CARS (P = 1.2E-10) implicate regions involved in Mendelian calcemic disorders: Rs1550532 in DGKD (P = 8.2E-11), also associated with bone density, and rs7336933 near DGKH/KIAA0564 (P = 9.1E-10) are near genes that encode distinct isoforms of diacylglycerol kinase. Rs780094 is in GCKR. We characterized the expression of these genes in gut, kidney, and bone, and demonstrate modulation of gene expression in bone in response to dietary calcium in mice. Our results shed new light on the genetics of calcium homeostasis.

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Sabater-Lleal M, Huang J, Chasman D, Naitza S, Dehghan A, Johnson AD, Teumer A, Reiner AP, Folkersen L, Basu S, Rudnicka AR, Trompet S, Malarstig A, Baumert J, Bis JC, Guo X, Hottenga JJ, Shin S-Y, Lopez LM, Lahti J, Tanaka T, Yanek LR, Oudot-Mellakh T, Wilson JF, Navarro P, Huffman JE, Zemunik T, Redline S, Mehra R, Pulanic D, Rudan I, Wright AF, Kolcic I, Polasek O, Wild SH, Campbell H, Curb JD, Wallace R, Liu S, Eaton CB, Becker DM, Becker LC, Bandinelli S, Raikkonen K, Widen E, Palotie A, Fornage M, Green D, Gross M, Davies G, Harris SE, Liewald DC, Starr JM, Williams FMK, Grant PJ, Spector TD, Strawbridge RJ, Silveira A, Sennblad B, Rivadeneira F, Uitterlinden AG, Franco OH, Hofman A, van Dongen J, Willemsen G, Boomsma DI, Yao J, Jenny NS, Haritunians T, McKnight B, Lumley T, Taylor KD, Rotter JI, Psaty BM, Peters A, Gieger C, Illig T, Grotevendt A, Homuth G, Voelzke H, Kocher T, Goel A, Franzosi MG, Seedorf U, Clarke R, Steri M, Tarasov KV, Sanna S, Schlessinger D, Stott DJ, Sattar N, Buckley BM, Rumley A, Lowe GD, McArdle WL, Chen M-H, Tofler GH, Song J, Boerwinkle E, Folsom AR, Rose LM, Franco-Cereceda A, Teichert M, Ikram MA, Mosley TH, Bevan S, Dichgans M, Rothwell PM, Sudlow CLM, Hopewell JC, Chambers JC, Saleheen D, Kooner JS, Danesh J, Nelson CP, Erdmann J, Reilly MP, Kathiresan S, Schunkert H, Morange P-E, Ferrucci L, Eriksson JG, Jacobs D, Deary IJ, Soranzo N, Witteman JCM, de Geus EJC, Tracy RP, Hayward C, Koenig W, Cucca F, Jukema JW, Eriksson P, Seshadri S, Markus HS, Watkins H, Samani NJ, Wallaschofski H, Smith NL, Tregouet D, Ridker PM, Tang W, Strachan DP, Hamsten A, O'Donnell CJet al., 2013, Multiethnic Meta-Analysis of Genome-Wide Association Studies in &gt; 100 000 Subjects Identifies 23 FibrinogenAssociated Loci but No Strong Evidence of a Causal Association Between Circulating Fibrinogen and Cardiovascular Disease, CIRCULATION, Vol: 128, Pages: 1310-1324, ISSN: 0009-7322

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Verhaaren BFJ, Vernooij MW, Dehghan A, Vrooman HA, de Boer R, Hofman A, Witteman JCM, Niessen WJ, Breteler MMB, van der Lugt A, Ikram MAet al., 2013, The Relation of Uric Acid to Brain Atrophy and Cognition: The Rotterdam Scan Study, NEUROEPIDEMIOLOGY, Vol: 41, Pages: 29-34, ISSN: 0251-5350

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