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Elin Grundberg, PhD

TitleRoberta D. Harding & William F. Bradley Jr. Endowed Chair in Genomic Research
InstitutionChildren's Mercy Kansas City
DepartmentPediatrics
Address2401 Gillham Rd
Kansas City MO 64108
ORCID ORCID Icon0000-0001-5415-7896 Additional info
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    Other Positions
    TitleAssociate Professor of Pediatrics
    InstitutionUniversity of Missouri-Kansas City
    DepartmentPediatrics

    TitleResearch Associate Professor of Pediatrics
    InstitutionUniversity of Kansas Medical Center
    DepartmentPediatrics

    TitleAdjunct Professor of Human Genetics
    InstitutionMcGill University
    DepartmentHuman Genetics


    Collapse Biography 
    Collapse education and training
    Uppsala University, Uppsala, SwedenPhD2006Molecular Medicine
    McGill University, Montreal, CanadaPost-doctoral fellowship2009Human Genetics
    Wellcome Trust Sanger Institute, Cambridge, UK Post-doctoral fellowship2012Genetic Epidemiology and Human Genetics
    Collapse awards and honors
    2017Roberta D. Harding & William F. Bradley, Jr. Endowed Chair in Genomic Research, Children's Mercy Kansas City
    2013 - 2018Canada Research Chair in Disease Genomics and Epigenomics (Tier 2), McGill University
    2012 - 2015The Swedish Research Council Young Investigator Award

    Collapse Overview 

    Collapse Research 
    Collapse research overview
    Dr. Elin Grundberg completed her PhD (2006) in Molecular Medicine at Uppsala University, Sweden and following post-doctoral training at the McGill University and Genome Quebec Innovation Centre she joined Wellcome Trust Sanger institute in 2009 to lead the international MuTHER Consortium, which included developing a major resource of detailed genomics and epigenomics data from multiple disease-targeted tissues from twins. In 2012, she was appointed Tenure-Track Assistant Professor at the Department of Human Genetics at McGill University where her group was applying various next-generation sequencing approaches to understand genetic and epigenetic factors underlying complex disease susceptibility. Dr. Grundberg lead two CIHR team grants on this topic including the EpiTriO Consotium with partners in Canada and Europe. She held a Canada Research Chair (tier 2) in Disease Genomics and Epigenomics.

    In Oct 2017, Dr. Grundberg joined the faculty at Children’s Mercy Kansas City where she holds the Roberta D. Harding & William F. Bradley, Jr. Endowed Chair in Genomic Research. She is building a comprehensive research program leveraging international collaborations (King’s College London, UK; INSERM, France, Helmholtz Zentrum, Germany, McGill, Canada) as well as local collaborators (CM, UMKC, KUMC) for tissue-resources and methodologies essential for contemporary disease genomics and epigenomics. Research areas span genomics medicine applied in pediatric and adult populations including rare diseases, metabolic diseases, social and environmental health and perinatal/maternal health.

    Dr. Grundberg currently collaborates with a number of large international research consortia and is the author of over 75 scientific papers.
    Collapse research activities and funding
    R01DK091718     (QI, LU)May 1, 2012 - Apr 30, 2022
    NIH
    Obesity Genes, Energy Regulation in Response to Weight-Loss Diets
    Role: Co-Investigator

         (Grundberg, Vohl)Mar 31, 2016 - Mar 31, 2020
    CIHR/FRSQ
    Integrative Epigenomics of Obesity and Metabolic Complications
    Role Description: The goal of this study is to identify epigenomics signatures underlying obesity-induced type 2 diabetes (T2D) and bariatric surgery-induced T2D remission
    Role: PI

         (Grundberg)Sep 1, 2016 - Mar 31, 2021
    CIHR Foundation Scheme
    Understanding etiology of metabolic diseases by integrative genomics and epigenomics approaches
    Role Description: The goal of this study is to apply high-resolution functional genomics and epigenomics approaches in cellular models and study cohorts targeted to metabolic diseases
    Role: PI

         (Pastinen, Bourque, Grundberg)Sep 1, 2017 - Mar 31, 2021
    CIHR
    Accessing chromatin interactions by high-resolution analyses of correlated regulatory element variation
    Role Description: The goal of this study is to identify chromatin conformation variation ranging from inter-individual to developmental differences represented by interacting differentially methylated regions
    Role: PI

    UL1TR002366     (Elin Grundberg)Jul 1, 2020 - Jul 1, 2021
    Frontiers: University of Kansas Clinical and Translational Science Institute
    Genomic and Cellular Predictors of COVID-19 in Children
    Role Description: The goal of this study is to gain insight into underlying mechanisms of COVID-19 in children
    Role: PI

    Collapse Bibliography 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
    List All   |   Timeline
    1. Péan N, Le Lay A, Brial F, Wasserscheid J, Rouch C, Vincent M, Myridakis A, Hedjazi L, Dumas ME, Grundberg E, Lathrop M, Magnan C, Dewar K, Gauguier D. Dominant gut Prevotella copri in gastrectomised non-obese diabetic Goto-Kakizaki rats improves glucose homeostasis through enhanced FXR signalling. Diabetologia. 2020 Mar 16. PMID: 32173762.
      View in: PubMed
    2. Allum F, Grundberg E. Capturing functional epigenomes for insight into metabolic diseases. Mol Metab. 2020 Feb 14; 100936. PMID: 32199819.
      View in: PubMed
    3. Vijay J, Gauthier MF, Biswell RL, Louiselle DA, Johnston JJ, Cheung WA, Belden B, Pramatarova A, Biertho L, Gibson M, Simon MM, Djambazian H, Staffa A, Bourque G, Laitinen A, Nystedt J, Vohl MC, Fraser JD, Pastinen T, Tchernof A, Grundberg E. Single-cell analysis of human adipose tissue identifies depot and disease specific cell types. Nat Metab. 2020 Jan; 2(1):97-109. PMID: 32066997.
      View in: PubMed
    4. Chan D, Shao X, Dumargne MC, Aarabi M, Simon MM, Kwan T, Bailey JL, Robaire B, Kimmins S, San Gabriel MC, Zini A, Librach C, Moskovtsev S, Grundberg E, Bourque G, Pastinen T, Trasler JM. Customized MethylC-Capture Sequencing to Evaluate Variation in the Human Sperm DNA Methylome Representative of Altered Folate Metabolism. Environ Health Perspect. 2019 08; 127(8):87002. PMID: 31393794.
      View in: PubMed
    5. Zheng J, Maerz W, Gergei I, Kleber M, Drechsler C, Wanner C, Brandenburg V, Reppe S, Gautvik KM, Medina-Gomez C, Shevroja E, Gilly A, Park YC, Dedoussis G, Zeggini E, Lorentzon M, Henning P, Lerner UH, Nilsson KH, Movérare-Skrtic S, Baird D, Elsworth B, Falk L, Groom A, Capellini TD, Grundberg E, Nethander M, Ohlsson C, Davey Smith G, Tobias JH. Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures. J Bone Miner Res. 2019 Oct; 34(10):1824-1836. PMID: 31170332.
      View in: PubMed
    6. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, Aïssi D, Chen L, Vasquez L, Allum F, Guénard F, Bouzigon E, Simon MM, Boulier E, Redensek A, Watt S, Datta A, Clarke L, Flicek P, Mead D, Paul DS, Beck S, Bourque G, Lathrop M, Tchernof A, Vohl MC, Demenais F, Pin I, Downes K, Stunnenberg HG, Soranzo N, Pastinen T, Grundberg E. Correction to: Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome. Genome Biol. 2019 05 07; 20(1):89. PMID: 31064398.
      View in: PubMed
    7. Morris JA, Kemp JP, Youlten SE, Laurent L, Logan JG, Chai RC, Vulpescu NA, Forgetta V, Kleinman A, Mohanty ST, Sergio CM, Quinn J, Nguyen-Yamamoto L, Luco AL, Vijay J, Simon MM, Pramatarova A, Medina-Gomez C, Trajanoska K, Ghirardello EJ, Butterfield NC, Curry KF, Leitch VD, Sparkes PC, Adoum AT, Mannan NS, Komla-Ebri DSK, Pollard AS, Dewhurst HF, Hassall TAD, Beltejar MG, Adams DJ, Vaillancourt SM, Kaptoge S, Baldock P, Cooper C, Reeve J, Ntzani EE, Evangelou E, Ohlsson C, Karasik D, Rivadeneira F, Kiel DP, Tobias JH, Gregson CL, Harvey NC, Grundberg E, Goltzman D, Adams DJ, Lelliott CJ, Hinds DA, Ackert-Bicknell CL, Hsu YH, Maurano MT, Croucher PI, Williams GR, Bassett JHD, Evans DM, Richards JB. Author Correction: An atlas of genetic influences on osteoporosis in humans and mice. Nat Genet. 2019 05; 51(5):920. PMID: 30988516.
      View in: PubMed
    8. Chechi K, Vijay J, Voisine P, Mathieu P, Bossé Y, Tchernof A, Grundberg E, Richard D. UCP1 expression-associated gene signatures of human epicardial adipose tissue. JCI Insight. 2019 04 18; 4(8). PMID: 30996144.
      View in: PubMed
    9. Allum F, Hedman ÅK, Shao X, Cheung WA, Vijay J, Guénard F, Kwan T, Simon MM, Ge B, Moura C, Boulier E, Rönnblom L, Bernatsky S, Lathrop M, McCarthy MI, Deloukas P, Tchernof A, Pastinen T, Vohl MC, Grundberg E. Dissecting features of epigenetic variants underlying cardiometabolic risk using full-resolution epigenome profiling in regulatory elements. Nat Commun. 2019 03 14; 10(1):1209. PMID: 30872577.
      View in: PubMed
    10. Morris JA, Kemp JP, Youlten SE, Laurent L, Logan JG, Chai RC, Vulpescu NA, Forgetta V, Kleinman A, Mohanty ST, Sergio CM, Quinn J, Nguyen-Yamamoto L, Luco AL, Vijay J, Simon MM, Pramatarova A, Medina-Gomez C, Trajanoska K, Ghirardello EJ, Butterfield NC, Curry KF, Leitch VD, Sparkes PC, Adoum AT, Mannan NS, Komla-Ebri DSK, Pollard AS, Dewhurst HF, Hassall TAD, Beltejar MG, Adams DJ, Vaillancourt SM, Kaptoge S, Baldock P, Cooper C, Reeve J, Ntzani EE, Evangelou E, Ohlsson C, Karasik D, Rivadeneira F, Kiel DP, Tobias JH, Gregson CL, Harvey NC, Grundberg E, Goltzman D, Adams DJ, Lelliott CJ, Hinds DA, Ackert-Bicknell CL, Hsu YH, Maurano MT, Croucher PI, Williams GR, Bassett JHD, Evans DM, Richards JB. An atlas of genetic influences on osteoporosis in humans and mice. Nat Genet. 2019 02; 51(2):258-266. PMID: 30598549.
      View in: PubMed
    11. Baird DA, Evans DS, Kamanu FK, Gregory JS, Saunders FR, Giuraniuc CV, Barr RJ, Aspden RM, Jenkins D, Kiel DP, Orwoll ES, Cummings SR, Lane NE, Mullin BH, Williams FM, Richards JB, Wilson SG, Spector TD, Faber BG, Lawlor DA, Grundberg E, Ohlsson C, Pettersson-Kymmer U, Capellini TD, Richard D, Beck TJ, Evans DM, Paternoster L, Karasik D, Tobias JH. Identification of Novel Loci Associated With Hip Shape: A Meta-Analysis of Genomewide Association Studies. J Bone Miner Res. 2019 02; 34(2):241-251. PMID: 30320955.
      View in: PubMed
    12. Björk A, Ribom E, Johansson G, Scragg R, Mellström D, Grundberg E, Ohlsson C, Karlsson M, Ljunggren Ö, Kindmark A. Variations in the vitamin D receptor gene are not associated with measures of muscle strength, physical performance, or falls in elderly men. Data from MrOS Sweden. J Steroid Biochem Mol Biol. 2019 03; 187:160-165. PMID: 30476589.
      View in: PubMed
    13. Kemp JP, Morris JA, Medina-Gomez C, Forgetta V, Warrington NM, Youlten SE, Zheng J, Gregson CL, Grundberg E, Trajanoska K, Logan JG, Pollard AS, Sparkes PC, Ghirardello EJ, Allen R, Leitch VD, Butterfield NC, Komla-Ebri D, Adoum AT, Curry KF, White JK, Kussy F, Greenlaw KM, Xu C, Harvey NC, Cooper C, Adams DJ, Greenwood CMT, Maurano MT, Kaptoge S, Rivadeneira F, Tobias JH, Croucher PI, Ackert-Bicknell CL, Bassett JHD, Williams GR, Richards JB, Evans DM. Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. Nat Genet. 2017 Oct; 49(10):1468-1475. PMID: 28869591.
      View in: PubMed
    14. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, Aïssi D, Chen L, Vasquez L, Allum F, Guénard F, Bouzigon E, Simon MM, Boulier E, Redensek A, Watt S, Datta A, Clarke L, Flicek P, Mead D, Paul DS, Beck S, Bourque G, Lathrop M, Tchernof A, Vohl MC, Demenais F, Pin I, Downes K, Stunnenberg HG, Soranzo N, Pastinen T, Grundberg E. Functional variation in allelic methylomes underscores a strong genetic contribution and reveals novel epigenetic alterations in the human epigenome. Genome Biol. 2017 03 10; 18(1):50. PMID: 28283040.
      View in: PubMed
    15. Love-Gregory L, Kraja AT, Allum F, Aslibekyan S, Hedman ÅK, Duan Y, Borecki IB, Arnett DK, McCarthy MI, Deloukas P, Ordovas JM, Hopkins PN, Grundberg E, Abumrad NA. Higher chylomicron remnants and LDL particle numbers associate with CD36 SNPs and DNA methylation sites that reduce CD36. J Lipid Res. 2016 12; 57(12):2176-2184. PMID: 27729386.
      View in: PubMed
    16. Busche S, Shao X, Caron M, Kwan T, Allum F, Cheung WA, Ge B, Westfall S, Simon MM, Barrett A, Bell JT, McCarthy MI, Deloukas P, Blanchette M, Bourque G, Spector TD, Lathrop M, Pastinen T, Grundberg E. Population whole-genome bisulfite sequencing across two tissues highlights the environment as the principal source of human methylome variation. Genome Biol. 2015 Dec 23; 16:290. PMID: 26699896.
      View in: PubMed
    17. Zheng HF, Forgetta V, Hsu YH, Estrada K, Rosello-Diez A, Leo PJ, Dahia CL, Park-Min KH, Tobias JH, Kooperberg C, Kleinman A, Styrkarsdottir U, Liu CT, Uggla C, Evans DS, Nielson CM, Walter K, Pettersson-Kymmer U, McCarthy S, Eriksson J, Kwan T, Jhamai M, Trajanoska K, Memari Y, Min J, Huang J, Danecek P, Wilmot B, Li R, Chou WC, Mokry LE, Moayyeri A, Claussnitzer M, Cheng CH, Cheung W, Medina-Gómez C, Ge B, Chen SH, Choi K, Oei L, Fraser J, Kraaij R, Hibbs MA, Gregson CL, Paquette D, Hofman A, Wibom C, Tranah GJ, Marshall M, Gardiner BB, Cremin K, Auer P, Hsu L, Ring S, Tung JY, Thorleifsson G, Enneman AW, van Schoor NM, de Groot LC, van der Velde N, Melin B, Kemp JP, Christiansen C, Sayers A, Zhou Y, Calderari S, van Rooij J, Carlson C, Peters U, Berlivet S, Dostie J, Uitterlinden AG, Williams SR, Farber C, Grinberg D, LaCroix AZ, Haessler J, Chasman DI, Giulianini F, Rose LM, Ridker PM, Eisman JA, Nguyen TV, Center JR, Nogues X, Garcia-Giralt N, Launer LL, Gudnason V, Mellström D, Vandenput L, Amin N, van Duijn CM, Karlsson MK, Ljunggren Ö, Svensson O, Hallmans G, Rousseau F, Giroux S, Bussière J, Arp PP, Koromani F, Prince RL, Lewis JR, Langdahl BL, Hermann AP, Jensen JE, Kaptoge S, Khaw KT, Reeve J, Formosa MM, Xuereb-Anastasi A, Åkesson K, McGuigan FE, Garg G, Olmos JM, Zarrabeitia MT, Riancho JA, Ralston SH, Alonso N, Jiang X, Goltzman D, Pastinen T, Grundberg E, Gauguier D, Orwoll ES, Karasik D, Davey-Smith G, Smith AV, Siggeirsdottir K, Harris TB, Zillikens MC, van Meurs JB, Thorsteinsdottir U, Maurano MT, Timpson NJ, Soranzo N, Durbin R, Wilson SG, Ntzani EE, Brown MA, Stefansson K, Hinds DA, Spector T, Cupples LA, Ohlsson C, Greenwood CM, Jackson RD, Rowe DW, Loomis CA, Evans DM, Ackert-Bicknell CL, Joyner AL, Duncan EL, Kiel DP, Rivadeneira F, Richards JB. Whole-genome sequencing identifies EN1 as a determinant of bone density and fracture. Nature. 2015 Oct 01; 526(7571):112-7. PMID: 26367794.
      View in: PubMed
    18. Allum F, Shao X, Guénard F, Simon MM, Busche S, Caron M, Lambourne J, Lessard J, Tandre K, Hedman ÅK, Kwan T, Ge B, Rönnblom L, McCarthy MI, Deloukas P, Richmond T, Burgess D, Spector TD, Tchernof A, Marceau S, Lathrop M, Vohl MC, Pastinen T, Grundberg E. Erratum: Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants. Nat Commun. 2015 Jul 29; 6:8016. PMID: 26219997.
      View in: PubMed
    19. Laxman N, Rubin CJ, Mallmin H, Nilsson O, Pastinen T, Grundberg E, Kindmark A. Global miRNA expression and correlation with mRNA levels in primary human bone cells. RNA. 2015 Aug; 21(8):1433-43. PMID: 26078267.
      View in: PubMed
    20. Allum F, Shao X, Guénard F, Simon MM, Busche S, Caron M, Lambourne J, Lessard J, Tandre K, Hedman ÅK, Kwan T, Ge B, Rönnblom L, McCarthy MI, Deloukas P, Richmond T, Burgess D, Spector TD, Tchernof A, Marceau S, Lathrop M, Vohl MC, Pastinen T, Grundberg E. Characterization of functional methylomes by next-generation capture sequencing identifies novel disease-associated variants. Nat Commun. 2015 May 29; 6:7211. PMID: 26021296.
      View in: PubMed
    21. Park HW, Ge B, Tse S, Grundberg E, Pastinen T, Kelly HW, Tantisira KG. Genetic risk factors for decreased bone mineral accretion in children with asthma receiving multiple oral corticosteroid bursts. J Allergy Clin Immunol. 2015 Nov; 136(5):1240-6.e1-8. PMID: 26025128.
      View in: PubMed
    22. Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Smith GD, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG. Erratum: Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015 May 20; 6:7172. PMID: 25989729.
      View in: PubMed
    23. Taylor PN, Porcu E, Chew S, Campbell PJ, Traglia M, Brown SJ, Mullin BH, Shihab HA, Min J, Walter K, Memari Y, Huang J, Barnes MR, Beilby JP, Charoen P, Danecek P, Dudbridge F, Forgetta V, Greenwood C, Grundberg E, Johnson AD, Hui J, Lim EM, McCarthy S, Muddyman D, Panicker V, Perry JR, Bell JT, Yuan W, Relton C, Gaunt T, Schlessinger D, Abecasis G, Cucca F, Surdulescu GL, Woltersdorf W, Zeggini E, Zheng HF, Toniolo D, Dayan CM, Naitza S, Walsh JP, Spector T, Davey Smith G, Durbin R, Richards JB, Sanna S, Soranzo N, Timpson NJ, Wilson SG. Whole-genome sequence-based analysis of thyroid function. Nat Commun. 2015 Mar 06; 6:5681. PMID: 25743335.
      View in: PubMed
    24. Liang L, Willis-Owen SAG, Laprise C, Wong KCC, Davies GA, Hudson TJ, Binia A, Hopkin JM, Yang IV, Grundberg E, Busche S, Hudson M, Rönnblom L, Pastinen TM, Schwartz DA, Lathrop GM, Moffatt MF, Cookson WOCM. An epigenome-wide association study of total serum immunoglobulin E concentration. Nature. 2015 Apr 30; 520(7549):670-674. PMID: 25707804.
      View in: PubMed
    25. Tsaprouni LG, Yang TP, Bell J, Dick KJ, Kanoni S, Nisbet J, Viñuela A, Grundberg E, Nelson CP, Meduri E, Buil A, Cambien F, Hengstenberg C, Erdmann J, Schunkert H, Goodall AH, Ouwehand WH, Dermitzakis E, Spector TD, Samani NJ, Deloukas P. Cigarette smoking reduces DNA methylation levels at multiple genomic loci but the effect is partially reversible upon cessation. Epigenetics. 2014 Oct; 9(10):1382-96. PMID: 25424692.
      View in: PubMed
    26. Ng MC, Shriner D, Chen BH, Li J, Chen WM, Guo X, Liu J, Bielinski SJ, Yanek LR, Nalls MA, Comeau ME, Rasmussen-Torvik LJ, Jensen RA, Evans DS, Sun YV, An P, Patel SR, Lu Y, Long J, Armstrong LL, Wagenknecht L, Yang L, Snively BM, Palmer ND, Mudgal P, Langefeld CD, Keene KL, Freedman BI, Mychaleckyj JC, Nayak U, Raffel LJ, Goodarzi MO, Chen YD, Taylor HA, Correa A, Sims M, Couper D, Pankow JS, Boerwinkle E, Adeyemo A, Doumatey A, Chen G, Mathias RA, Vaidya D, Singleton AB, Zonderman AB, Igo RP, Sedor JR, Kabagambe EK, Siscovick DS, McKnight B, Rice K, Liu Y, Hsueh WC, Zhao W, Bielak LF, Kraja A, Province MA, Bottinger EP, Gottesman O, Cai Q, Zheng W, Blot WJ, Lowe WL, Pacheco JA, Crawford DC, Grundberg E, Rich SS, Hayes MG, Shu XO, Loos RJ, Borecki IB, Peyser PA, Cummings SR, Psaty BM, Fornage M, Iyengar SK, Evans MK, Becker DM, Kao WH, Wilson JG, Rotter JI, Sale MM, Liu S, Rotimi CN, Bowden DW. Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. PLoS Genet. 2014 Aug; 10(8):e1004517. PMID: 25102180.
      View in: PubMed
    27. Kemp JP, Medina-Gomez C, Estrada K, St Pourcain B, Heppe DH, Warrington NM, Oei L, Ring SM, Kruithof CJ, Timpson NJ, Wolber LE, Reppe S, Gautvik K, Grundberg E, Ge B, van der Eerden B, van de Peppel J, Hibbs MA, Ackert-Bicknell CL, Choi K, Koller DL, Econs MJ, Williams FM, Foroud T, Zillikens MC, Ohlsson C, Hofman A, Uitterlinden AG, Davey Smith G, Jaddoe VW, Tobias JH, Rivadeneira F, Evans DM. Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. PLoS Genet. 2014 Jun; 10(6):e1004423. PMID: 24945404.
      View in: PubMed
    28. Shin SY, Fauman EB, Petersen AK, Krumsiek J, Santos R, Huang J, Arnold M, Erte I, Forgetta V, Yang TP, Walter K, Menni C, Chen L, Vasquez L, Valdes AM, Hyde CL, Wang V, Ziemek D, Roberts P, Xi L, Grundberg E, Waldenberger M, Richards JB, Mohney RP, Milburn MV, John SL, Trimmer J, Theis FJ, Overington JP, Suhre K, Brosnan MJ, Gieger C, Kastenmüller G, Spector TD, Soranzo N. An atlas of genetic influences on human blood metabolites. Nat Genet. 2014 Jun; 46(6):543-550. PMID: 24816252.
      View in: PubMed
    29. Shin SY, Petersen AK, Wahl S, Zhai G, Römisch-Margl W, Small KS, Döring A, Kato BS, Peters A, Grundberg E, Prehn C, Wang-Sattler R, Wichmann HE, de Angelis MH, Illig T, Adamski J, Deloukas P, Spector TD, Suhre K, Gieger C, Soranzo N. Interrogating causal pathways linking genetic variants, small molecule metabolites, and circulating lipids. Genome Med. 2014; 6(3):25. PMID: 24678845.
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    50. Hsu YH, Zillikens MC, Wilson SG, Farber CR, Demissie S, Soranzo N, Bianchi EN, Grundberg E, Liang L, Richards JB, Estrada K, Zhou Y, van Nas A, Moffatt MF, Zhai G, Hofman A, van Meurs JB, Pols HA, Price RI, Nilsson O, Pastinen T, Cupples LA, Lusis AJ, Schadt EE, Ferrari S, Uitterlinden AG, Rivadeneira F, Spector TD, Karasik D, Kiel DP. An integration of genome-wide association study and gene expression profiling to prioritize the discovery of novel susceptibility Loci for osteoporosis-related traits. PLoS Genet. 2010 Jun 10; 6(6):e1000977. PMID: 20548944.
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    51. Saferali A, Grundberg E, Berlivet S, Beauchemin H, Morcos L, Polychronakos C, Pastinen T, Graham J, McNeney B, Naumova AK. Cell culture-induced aberrant methylation of the imprinted IG DMR in human lymphoblastoid cell lines. Epigenetics. 2010 Jan 01; 5(1):50-60. PMID: 20026906.
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    52. Grundberg E, Kwan T, Pastinen TM. Analysis of the impact of genetic variation on human gene expression. Methods Mol Biol. 2010; 628:321-39. PMID: 20238090.
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    53. Richards JB, Waterworth D, O'Rahilly S, Hivert MF, Loos RJ, Perry JR, Tanaka T, Timpson NJ, Semple RK, Soranzo N, Song K, Rocha N, Grundberg E, Dupuis J, Florez JC, Langenberg C, Prokopenko I, Saxena R, Sladek R, Aulchenko Y, Evans D, Waeber G, Erdmann J, Burnett MS, Sattar N, Devaney J, Willenborg C, Hingorani A, Witteman JC, Vollenweider P, Glaser B, Hengstenberg C, Ferrucci L, Melzer D, Stark K, Deanfield J, Winogradow J, Grassl M, Hall AS, Egan JM, Thompson JR, Ricketts SL, König IR, Reinhard W, Grundy S, Wichmann HE, Barter P, Mahley R, Kesaniemi YA, Rader DJ, Reilly MP, Epstein SE, Stewart AF, Van Duijn CM, Schunkert H, Burling K, Deloukas P, Pastinen T, Samani NJ, McPherson R, Davey Smith G, Frayling TM, Wareham NJ, Meigs JB, Mooser V, Spector TD. A genome-wide association study reveals variants in ARL15 that influence adiponectin levels. PLoS Genet. 2009 Dec; 5(12):e1000768. PMID: 20011104.
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    54. Wilson SG, Jones MR, Mullin BH, Dick IM, Richards JB, Pastinen TM, Grundberg E, Ljunggren O, Surdulescu GL, Dudbridge F, Elliott KS, Cervino AC, Spector TD, Prince RL. Common sequence variation in FLNB regulates bone structure in women in the general population and FLNB mRNA expression in osteoblasts in vitro. J Bone Miner Res. 2009 Dec; 24(12):1989-97. PMID: 19453265.
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    55. Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagné V, Dias J, Hoberman R, Montpetit A, Joly MM, Harvey EJ, Sinnett D, Beaulieu P, Hamon R, Graziani A, Dewar K, Harmsen E, Majewski J, Göring HH, Naumova AK, Blanchette M, Gunderson KL, Pastinen T. Global patterns of cis variation in human cells revealed by high-density allelic expression analysis. Nat Genet. 2009 Nov; 41(11):1216-22. PMID: 19838192.
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    56. Rivadeneira F, Styrkársdottir U, Estrada K, Halldórsson BV, Hsu YH, Richards JB, Zillikens MC, Kavvoura FK, Amin N, Aulchenko YS, Cupples LA, Deloukas P, Demissie S, Grundberg E, Hofman A, Kong A, Karasik D, van Meurs JB, Oostra B, Pastinen T, Pols HA, Sigurdsson G, Soranzo N, Thorleifsson G, Thorsteinsdottir U, Williams FM, Wilson SG, Zhou Y, Ralston SH, van Duijn CM, Spector T, Kiel DP, Stefansson K, Ioannidis JP, Uitterlinden AG. Twenty bone-mineral-density loci identified by large-scale meta-analysis of genome-wide association studies. Nat Genet. 2009 Nov; 41(11):1199-206. PMID: 19801982.
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    57. Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Larivière M, Moussette S, Grundberg E, Kwan T, Ouimet M, Ge B, Hoberman R, Swiatek M, Dias J, Lam KC, Koka V, Harmsen E, Soto-Quiros M, Avila L, Celedón JC, Weiss ST, Dewar K, Sinnett D, Laprise C, Raby BA, Pastinen T, Naumova AK. Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease. Am J Hum Genet. 2009 Sep; 85(3):377-93. PMID: 19732864.
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    58. Kwan T, Grundberg E, Koka V, Ge B, Lam KC, Dias C, Kindmark A, Mallmin H, Ljunggren O, Rivadeneira F, Estrada K, van Meurs JB, Uitterlinden A, Karlsson M, Ohlsson C, Mellström D, Nilsson O, Pastinen T, Majewski J. Tissue effect on genetic control of transcript isoform variation. PLoS Genet. 2009 Aug; 5(8):e1000608. PMID: 19680542.
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    59. Grundberg E, Kwan T, Ge B, Lam KC, Koka V, Kindmark A, Mallmin H, Dias J, Verlaan DJ, Ouimet M, Sinnett D, Rivadeneira F, Estrada K, Hofman A, van Meurs JM, Uitterlinden A, Beaulieu P, Graziani A, Harmsen E, Ljunggren O, Ohlsson C, Mellström D, Karlsson MK, Nilsson O, Pastinen T. Population genomics in a disease targeted primary cell model. Genome Res. 2009 Nov; 19(11):1942-52. PMID: 19654370.
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    60. Lerner-Ellis JP, Anastasio N, Liu J, Coelho D, Suormala T, Stucki M, Loewy AD, Gurd S, Grundberg E, Morel CF, Watkins D, Baumgartner MR, Pastinen T, Rosenblatt DS, Fowler B. Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. Hum Mutat. 2009 Jul; 30(7):1072-81. PMID: 19370762.
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    61. Ribom EL, Grundberg E, Mallmin H, Ohlsson C, Lorenzon M, Orwoll E, Holmberg AH, Mellström D, Ljunggren O, Karlsson MK. Estimation of physical performance and measurements of habitual physical activity may capture men with high risk to fall--data from the Mr Os Sweden cohort. Arch Gerontol Geriatr. 2009 Jul-Aug; 49(1):e72-6. PMID: 18986717.
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    62. Grundberg E, Lau EM, Lorentzon M, Karlsson M, Holmberg A, Groop L, Mellström D, Orwoll E, Mallmin H, Ohlsson C, Ljunggren Ö, Åkesson K. Erratum to: Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men. Osteoporos Int. 2008 Nov; 19(11):1647. PMID: 27730267.
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    63. Verlaan DJ, Ge B, Grundberg E, Hoberman R, Lam KC, Koka V, Dias J, Gurd S, Martin NW, Mallmin H, Nilsson O, Harmsen E, Dewar K, Kwan T, Pastinen T. Targeted screening of cis-regulatory variation in human haplotypes. Genome Res. 2009 Jan; 19(1):118-27. PMID: 18971308.
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    64. Khoschnau S, Melhus H, Jacobson A, Rahme H, Bengtsson H, Ribom E, Grundberg E, Mallmin H, Michaëlsson K. Type I collagen alpha1 Sp1 polymorphism and the risk of cruciate ligament ruptures or shoulder dislocations. Am J Sports Med. 2008 Dec; 36(12):2432-6. PMID: 18669982.
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    65. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, Jönsen A, Truedsson L, Rantapää-Dahlqvist S, Eriksson C, Alm G, Göring HH, Pastinen T, Syvänen AC, Rönnblom L. A risk haplotype of STAT4 for systemic lupus erythematosus is over-expressed, correlates with anti-dsDNA and shows additive effects with two risk alleles of IRF5. Hum Mol Genet. 2008 Sep 15; 17(18):2868-76. PMID: 18579578.
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    66. Grundberg E, Lau EM, Lorentzon M, Lorentzson M, Karlsson M, Holmberg A, Groop L, Mellström D, Orwoll E, Mallmin H, Ohlsson C, Ljunggren O, Akesson K. Large-scale association study between two coding LRP5 gene polymorphisms and bone phenotypes and fractures in men. Osteoporos Int. 2008 Jun; 19(6):829-37. PMID: 18026682.
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    67. Grundberg E, Brändström H, Lam KC, Gurd S, Ge B, Harmsen E, Kindmark A, Ljunggren O, Mallmin H, Nilsson O, Pastinen T. Systematic assessment of the human osteoblast transcriptome in resting and induced primary cells. Physiol Genomics. 2008 May 13; 33(3):301-11. PMID: 18334548.
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    68. Strandberg L, Mellström D, Ljunggren O, Grundberg E, Karlsson MK, Holmberg AH, Orwoll ES, Eriksson AL, Svedberg J, Bengtsson M, Ohlsson C, Jansson JO. IL6 and IL1B polymorphisms are associated with fat mass in older men: the MrOS Study Sweden. Obesity (Silver Spring). 2008 Mar; 16(3):710-3. PMID: 18239554.
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    69. Marsell R, Grundberg E, Krajisnik T, Mallmin H, Karlsson M, Mellström D, Orwoll E, Ohlsson C, Jonsson KB, Ljunggren O, Larsson TE. Fibroblast growth factor-23 is associated with parathyroid hormone and renal function in a population-based cohort of elderly men. Eur J Endocrinol. 2008 Jan; 158(1):125-9. PMID: 18166826.
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    70. Pollard KS, Serre D, Wang X, Tao H, Grundberg E, Hudson TJ, Clark AG, Frazer K. A genome-wide approach to identifying novel-imprinted genes. Hum Genet. 2008 Jan; 122(6):625-34. PMID: 17955261.
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    71. Eriksson AL, Mellström D, Lorentzon M, Orwoll ES, Redlund-Johnell I, Grundberg E, Holmberg A, Ljunggren O, Karlsson MK, Ohlsson C. The COMT val158met polymorphism is associated with prevalent fractures in Swedish men. Bone. 2008 Jan; 42(1):107-12. PMID: 17962094.
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    72. Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, Ljunggren O, Mellström D, Orwoll E, Redlund-Johnell I, Holmberg A, Gurd S, Leung PC, Kwok T, Ohlsson C, Mallmin H, Brändström H. Vitamin D receptor 3' haplotypes are unequally expressed in primary human bone cells and associated with increased fracture risk: the MrOS Study in Sweden and Hong Kong. J Bone Miner Res. 2007 Jun; 22(6):832-40. PMID: 17371163.
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    73. Grundberg E, Akesson K, Kindmark A, Gerdhem P, Holmberg A, Mellström D, Ljunggren O, Orwoll E, Mallmin H, Ohlsson C, Brändström H. The impact of estradiol on bone mineral density is modulated by the specific estrogen receptor-alpha cofactor retinoblastoma-interacting zinc finger protein-1 insertion/deletion polymorphism. J Clin Endocrinol Metab. 2007 Jun; 92(6):2300-6. PMID: 17356055.
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    74. Figtree GA, Kindmark A, Lind L, Grundberg E, Speller B, Robinson BG, Channon KM, Watkins H. Novel estrogen receptor alpha promoter polymorphism increases ventricular hypertrophic response to hypertension. J Steroid Biochem Mol Biol. 2007 Feb; 103(2):110-8. PMID: 17095210.
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    75. Michaëlsson K, Wolk A, Jacobsson A, Kindmark A, Grundberg E, Stiger F, Mallmin H, Ljunghall S, Melhus H. The positive effect of dietary vitamin D intake on bone mineral density in men is modulated by the polyadenosine repeat polymorphism of the vitamin D receptor. Bone. 2006 Dec; 39(6):1343-51. PMID: 16860619.
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    76. Grundberg E, Ribom EL, Brändström H, Ljunggren O, Mallmin H, Kindmark A. A TA-repeat polymorphism in the gene for the estrogen receptor alpha does not correlate with muscle strength or body composition in young adult Swedish women. Maturitas. 2005 Mar 14; 50(3):153-60. PMID: 15734595.
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    77. Grundberg E, Carling T, Brändström H, Huang S, Ribom EL, Ljunggren O, Mallmin H, Kindmark A. A deletion polymorphism in the RIZ gene, a female sex steroid hormone receptor coactivator, exhibits decreased response to estrogen in vitro and associates with low bone mineral density in young Swedish women. J Clin Endocrinol Metab. 2004 Dec; 89(12):6173-8. PMID: 15579774.
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    78. Grundberg E, Brändström H, Ribom EL, Ljunggren O, Mallmin H, Kindmark A. Genetic variation in the human vitamin D receptor is associated with muscle strength, fat mass and body weight in Swedish women. Eur J Endocrinol. 2004 Mar; 150(3):323-8. PMID: 15012617.
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    79. Grundberg E, Brändström H, Ribom EL, Ljunggren O, Kindmark A, Mallmin H. A poly adenosine repeat in the human vitamin D receptor gene is associated with bone mineral density in young Swedish women. Calcif Tissue Int. 2003 Nov; 73(5):455-62. PMID: 12958689.
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    80. GRUNDBERG E, TITSWORTH E. The effect of cortisone on infection of white mice with Histoplasma capsulatum. Am Rev Respir Dis. 1963 Jun; 87:911-3. PMID: 13950927.
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