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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
    R01ES029280     (SOARES, MICHAEL J)Jun 1, 2018 - May 31, 2023
    NIH
    Environmental Exposures, AHR Activation, and Placental Origins of Development
    Role: MPI
    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
    R01MD015409     (GRUNDBERG, ELIN)Aug 26, 2020 - Apr 30, 2025
    NIH
    Understanding Mechanisms Underlying Chronic Stress-Induced Asthma in Children by Population and Single-Cell Epigenomics Approaches
    Role: Principal Investigator

    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. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung WA, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. Nat Commun. 2024 Sep 18; 15(1):8196. PMID: 39294130.
      View in: PubMed
    2. Keever-Keigher MR, Harvey L, Williams V, Vyhlidal CA, Ahmed AA, Johnston JJ, Louiselle DA, Grundberg E, Pastinen T, Friesen CA, Chevalier R, Smail C, Shakhnovich V. Genomic insights into pediatric intestinal inflammatory and eosinophilic disorders using single-cell RNA-sequencing. Front Immunol. 2024; 15:1420208. PMID: 39192974.
      View in: PubMed
    3. Feldman K, Kane NJ, Daniels-Young S, Reed B, Welch J, Fitzpatrick L, Hoffman MA, Bradley-Ewing A, Grundberg E. Utilization of geospatial distribution in the measurement of study cohort representativeness. J Biomed Inform. 2024 Sep; 157:104687. PMID: 38986921.
      View in: PubMed
    4. Mann LK, Pandiri S, Agarwal N, Northrup H, Au KS, Grundberg E, Bergh EP, Austin MT, Patel R, Miller B, Zhu S, Feinberg JS, Lai D, Tsao K, Fletcher SA, Papanna R. Morphometric Analysis of Spina Bifida after Fetal Repair Shows New Subtypes with Associated Outcomes. medRxiv. 2024 May 29. PMID: 38853851.
      View in: PubMed
    5. Christiansen C, Potier L, Martin TC, Villica?a S, Castillo-Fernandez JE, Mangino M, Menni C, Tsai PC, Campbell PJ, Mullin S, Ordo?ana JR, Monteagudo O, Sachdev PS, Mather KA, Trollor JN, Pietilainen KH, Ollikainen M, Dalg?rd C, Kyvik K, Christensen K, van Dongen J, Willemsen G, Boomsma DI, Magnusson PKE, Pedersen NL, Wilson SG, Grundberg E, Spector TD, Bell JT. Enhanced resolution profiling in twins reveals differential methylation signatures of type 2 diabetes with links to its complications. EBioMedicine. 2024 May; 103:105096. PMID: 38574408.
      View in: PubMed
    6. Smail C, Ge B, Keever-Keigher MR, Schwendinger-Schreck C, Cheung W, Johnston JJ, Barrett C, Feldman K, Cohen ASA, Farrow EG, Thiffault I, Grundberg E, Pastinen T. Complex trait associations in rare diseases and impacts on Mendelian variant interpretation. medRxiv. 2024 Jan 11. PMID: 38260377.
      View in: PubMed
    7. Li X, Shao X, Kou M, Wang X, Ma H, Grundberg E, Bazzano LA, Smith SR, Bray GA, Sacks FM, Qi L. DNA Methylation at ABCG1 and Long-term Changes in Adiposity and Fat Distribution in Response to Dietary Interventions: The POUNDS Lost Trial. Diabetes Care. 2023 Dec 01; 46(12):2201-2207. PMID: 37770056.
      View in: PubMed
    8. Mullin BH, Zhu K, Brown SJ, Mullin S, Dudbridge F, Pavlos NJ, Richards JB, Grundberg E, Bell JT, Zeggini E, Walsh JP, Xu J, Wilson SG. Leveraging osteoclast genetic regulatory data to identify genes with a role in osteoarthritis. Genetics. 2023 10 04; 225(2). PMID: 37579195.
      View in: PubMed
    9. Varberg KM, Dominguez EM, Koseva B, Varberg JM, McNally RP, Moreno-Irusta A, Wesley ER, Iqbal K, Cheung WA, Schwendinger-Schreck C, Smail C, Okae H, Arima T, Lydic M, Holoch K, Marsh C, Soares MJ, Grundberg E. Extravillous trophoblast cell lineage development is associated with active remodeling of the chromatin landscape. Nat Commun. 2023 08 10; 14(1):4826. PMID: 37563143.
      View in: PubMed
    10. Li X, Shao X, Xue Q, Kou M, Champagne CM, Koseva BS, Heianza Y, Grundberg E, Bazzano LA, Bray GA, Sacks FM, Qi L. DNA Methylation Near CPT1A and Changes in Triglyceride-rich Lipoproteins in Response to Weight-loss Diet Interventions. J Clin Endocrinol Metab. 2023 07 14; 108(8):e542-e549. PMID: 36800272.
      View in: PubMed
    11. Cheung WA, Johnson AF, Rowell WJ, Farrow E, Hall R, Cohen ASA, Means JC, Zion TN, Portik DM, Saunders CT, Koseva B, Bi C, Truong TK, Schwendinger-Schreck C, Yoo B, Johnston JJ, Gibson M, Evrony G, Rizzo WB, Thiffault I, Younger ST, Curran T, Wenger AM, Grundberg E, Pastinen T. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort. Nat Commun. 2023 05 29; 14(1):3090. PMID: 37248219.
      View in: PubMed
    12. Kou M, Li X, Shao X, Grundberg E, Wang X, Ma H, Heianza Y, Martinez JA, Bray GA, Sacks FM, Qi L. DNA Methylation of Birthweight-Blood Pressure Genes and Changes of Blood Pressure in Response to Weight-Loss Diets in the POUNDS Lost Trial. Hypertension. 2023 06; 80(6):1223-1230. PMID: 37039021.
      View in: PubMed
    13. Hassan N, Gregson CL, Tang H, van der Kamp M, Leo P, McInerney-Leo AM, Zheng J, Brandi ML, Tang JCY, Fraser W, Stone MD, Grundberg E, Brown MA, Duncan EL, Tobias JH. Rare and Common Variants in GALNT3 May Affect Bone Mass Independently of Phosphate Metabolism. J Bone Miner Res. 2023 05; 38(5):678-691. PMID: 36824040.
      View in: PubMed
    14. Zion TN, Berrios CD, Cohen ASA, Bartik L, Cross LA, Engleman KL, Fleming EA, Gadea RN, Hughes SS, Jenkins JL, Kussmann J, Lawson C, Schwager C, Strenk ME, Welsh H, Rush ET, Amudhavalli SM, Sullivan BR, Zhou D, Gannon JL, Heese BA, Moore R, Boillat E, Biswell RL, Louiselle DA, Puckett LMB, Beyer S, Neal SH, Sierant V, McBeth M, Belden B, Walter AM, Gibson M, Cheung WA, Johnston JJ, Thiffault I, Farrow EG, Grundberg E, Pastinen T. Insurance denials and diagnostic rates in a pediatric genomic research cohort. Genet Med. 2023 05; 25(5):100020. PMID: 36718845.
      View in: PubMed
    15. Xia S, Vila Ellis L, Winkley K, Menden H, Mabry SM, Venkatraman A, Louiselle D, Gibson M, Grundberg E, Chen J, Sampath V. Neonatal hyperoxia induces activated pulmonary cellular states and sex-dependent transcriptomic changes in a model of experimental bronchopulmonary dysplasia. Am J Physiol Lung Cell Mol Physiol. 2023 02 01; 324(2):L123-L140. PMID: 36537711.
      View in: PubMed
    16. Ningappa M, Shao X, Ashokkumar C, Xu Q, Zeevi A, Grundberg E, Pastinen T, Sindhi R. The Role of Dynamic DNA Methylation in Liver Transplant Rejection in Children. Transplant Direct. 2022 Nov; 8(11):e1394. PMID: 36259078.
      View in: PubMed
    17. Yang CH, Fagnocchi L, Apostle S, Wegert V, Casan?-Gald?n S, Landgraf K, Panzeri I, Dror E, Heyne S, W?rpel T, Chandler DP, Lu D, Yang T, Gibbons E, Guerreiro R, Bras J, Thomasen M, Grunnet LG, Vaag AA, Gillberg L, Grundberg E, Conesa A, K?rner A, Pospisilik JA. Independent phenotypic plasticity axes define distinct obesity sub-types. Nat Metab. 2022 09; 4(9):1150-1165. PMID: 36097183.
      View in: PubMed
    18. Fraley E, LeMaster C, Khanal S, Banerjee D, Pastinen T, Grundberg E, Selvarangan R, Bradley T. The Impact of Prior Infection and Age on Antibody Persistence After Severe Acute Respiratory Syndrome Coronavirus 2 Messenger RNA Vaccine. Clin Infect Dis. 2022 08 24; 75(1):e902-e904. PMID: 34551091.
      View in: PubMed
    19. Christiansen C, Tomlinson M, Eliot M, Nilsson E, Costeira R, Xia Y, Villica?a S, Mompeo O, Wells P, Castillo-Fernandez J, Potier L, Vohl MC, Tchernof A, Moustafa JE, Menni C, Steves CJ, Kelsey K, Ling C, Grundberg E, Small KS, Bell JT. Adipose methylome integrative-omic analyses reveal genetic and dietary metabolic health drivers and insulin resistance classifiers. Genome Med. 2022 07 18; 14(1):75. PMID: 35843982.
      View in: PubMed
    20. Maltais-Payette I, Vijay J, Simon MM, Corbeil J, Bri?re F, Grundberg E, Tchernof A. Large-scale analysis of circulating glutamate and adipose gene expression in relation to abdominal obesity. Amino Acids. 2022 Sep; 54(9):1287-1294. PMID: 35809202.
      View in: PubMed
    21. Geanes ES, LeMaster C, Fraley ER, Khanal S, McLennan R, Grundberg E, Selvarangan R, Bradley T. Cross-reactive antibodies elicited to conserved epitopes on SARS-CoV-2 spike protein after infection and vaccination. Sci Rep. 2022 04 20; 12(1):6496. PMID: 35444221.
      View in: PubMed
    22. Cohen ASA, Farrow EG, Abdelmoity AT, Alaimo JT, Amudhavalli SM, Anderson JT, Bansal L, Bartik L, Baybayan P, Belden B, Berrios CD, Biswell RL, Buczkowicz P, Buske O, Chakraborty S, Cheung WA, Coffman KA, Cooper AM, Cross LA, Curran T, Dang TTT, Elfrink MM, Engleman KL, Fecske ED, Fieser C, Fitzgerald K, Fleming EA, Gadea RN, Gannon JL, Gelineau-Morel RN, Gibson M, Goldstein J, Grundberg E, Halpin K, Harvey BS, Heese BA, Hein W, Herd SM, Hughes SS, Ilyas M, Jacobson J, Jenkins JL, Jiang S, Johnston JJ, Keeler K, Korlach J, Kussmann J, Lambert C, Lawson C, Le Pichon JB, Leeder JS, Little VC, Louiselle DA, Lypka M, McDonald BD, Miller N, Modrcin A, Nair A, Neal SH, Oermann CM, Pacicca DM, Pawar K, Posey NL, Price N, Puckett LMB, Quezada JF, Raje N, Rowell WJ, Rush ET, Sampath V, Saunders CJ, Schwager C, Schwend RM, Shaffer E, Smail C, Soden S, Strenk ME, Sullivan BR, Sweeney BR, Tam-Williams JB, Walter AM, Welsh H, Wenger AM, Willig LK, Yan Y, Younger ST, Zhou D, Zion TN, Thiffault I, Pastinen T. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes. Genet Med. 2022 06; 24(6):1336-1348. PMID: 35305867.
      View in: PubMed
    23. Li X, Shao X, Bazzano LA, Xue Q, Koseva BS, Grundberg E, Shai I, Bray GA, Sacks FM, Qi L. Blood DNA methylation at TXNIP and glycemic changes in response to weight-loss diet interventions: the POUNDS lost trial. Int J Obes (Lond). 2022 06; 46(6):1122-1127. PMID: 35165382.
      View in: PubMed
    24. Muto M, Chakraborty D, Varberg KM, Moreno-Irusta A, Iqbal K, Scott RL, McNally RP, Choudhury RH, Aplin JD, Okae H, Arima T, Matsumoto S, Ema M, Mast AE, Grundberg E, Soares MJ. Intersection of regulatory pathways controlling hemostasis and hemochorial placentation. Proc Natl Acad Sci U S A. 2021 12 14; 118(50). PMID: 34876522.
      View in: PubMed
    25. Winkley K, Banerjee D, Bradley T, Koseva B, Cheung WA, Selvarangan R, Pastinen T, Grundberg E. Immune cell residency in the nasal mucosa may partially explain respiratory disease severity across the age range. Sci Rep. 2021 08 05; 11(1):15927. PMID: 34354210.
      View in: PubMed
    26. Fraley E, LeMaster C, Geanes E, Banerjee D, Khanal S, Grundberg E, Selvarangan R, Bradley T. Humoral immune responses during SARS-CoV-2 mRNA vaccine administration in seropositive and seronegative individuals. BMC Med. 2021 07 26; 19(1):169. PMID: 34304742.
      View in: PubMed
    27. Bradley T, Grundberg E, Selvarangan R, LeMaster C, Fraley E, Banerjee D, Belden B, Louiselle D, Nolte N, Biswell R, Pastinen T, Myers A, Schuster J. Antibody Responses after a Single Dose of SARS-CoV-2 mRNA Vaccine. N Engl J Med. 2021 05 20; 384(20):1959-1961. PMID: 33755375.
      View in: PubMed
    28. Winkley K, Koseva B, Banerjee D, Cheung W, Selvarangan R, Pastinen T, Grundberg E. High-resolution epigenome analysis in nasal samples derived from children with respiratory viral infections reveals striking changes upon SARS-CoV-2 infection. medRxiv. 2021 Mar 11. PMID: 33758880.
      View in: PubMed
    29. Varberg KM, Iqbal K, Muto M, Simon ME, Scott RL, Kozai K, Choudhury RH, Aplin JD, Biswell R, Gibson M, Okae H, Arima T, Vivian JL, Grundberg E, Soares MJ. ASCL2 reciprocally controls key trophoblast lineage decisions during hemochorial placenta development. Proc Natl Acad Sci U S A. 2021 03 09; 118(10). PMID: 33649217.
      View in: PubMed
    30. Ostinelli G, Vijay J, Vohl MC, Grundberg E, Tchernof A. AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants. Mol Cell Endocrinol. 2021 05 01; 527:111220. PMID: 33675863.
      View in: PubMed
    31. Bradley T, Grundberg E, Selvarangan R. Antibody responses boosted in seropositive healthcare workers after single dose of SARS-CoV-2 mRNA vaccine. medRxiv. 2021 Feb 05. PMID: 33564797.
      View in: PubMed
    32. P?an 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 06; 63(6):1223-1235. PMID: 32173762.
      View in: PubMed
    33. Allum F, Grundberg E. Capturing functional epigenomes for insight into metabolic diseases. Mol Metab. 2020 08; 38:100936. PMID: 32199819.
      View in: PubMed
    34. 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 01; 2(1):97-109. PMID: 32066997.
      View in: PubMed
    35. 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
    36. 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, Mov?rare-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 10; 34(10):1824-1836. PMID: 31170332.
      View in: PubMed
    37. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, A?ssi D, Chen L, Vasquez L, Allum F, Gu?nard 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
    38. 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
    39. Chechi K, Vijay J, Voisine P, Mathieu P, Boss? 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
    40. Allum F, Hedman ?K, Shao X, Cheung WA, Vijay J, Gu?nard F, Kwan T, Simon MM, Ge B, Moura C, Boulier E, R?nnblom 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
    41. 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
    42. 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
    43. Bj?rk A, Ribom E, Johansson G, Scragg R, Mellstr?m D, Grundberg E, Ohlsson C, Karlsson M, Ljunggren ?, 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.
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    44. 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
    45. Cheung WA, Shao X, Morin A, Siroux V, Kwan T, Ge B, A?ssi D, Chen L, Vasquez L, Allum F, Gu?nard 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
    46. Love-Gregory L, Kraja AT, Allum F, Aslibekyan S, Hedman ?K, 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
    47. 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.
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    74. Suhre K, Shin SY, Petersen AK, Mohney RP, Meredith D, W?gele B, Altmaier E, Deloukas P, Erdmann J, Grundberg E, Hammond CJ, de Angelis MH, Kastenm?ller G, K?ttgen A, Kronenberg F, Mangino M, Meisinger C, Meitinger T, Mewes HW, Milburn MV, Prehn C, Raffler J, Ried JS, R?misch-Margl W, Samani NJ, Small KS, Wichmann HE, Zhai G, Illig T, Spector TD, Adamski J, Soranzo N, Gieger C. Human metabolic individuality in biomedical and pharmaceutical research. Nature. 2011 Aug 31; 477(7362):54-60. PMID: 21886157.
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    76. Small KS, Hedman AK, Grundberg E, Nica AC, Thorleifsson G, Kong A, Thorsteindottir U, Shin SY, Richards HB, Soranzo N, Ahmadi KR, Lindgren CM, Stefansson K, Dermitzakis ET, Deloukas P, Spector TD, McCarthy MI. Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes. Nat Genet. 2011 Jun; 43(6):561-4. PMID: 21572415.
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    77. Zhai G, Teumer A, Stolk L, Perry JR, Vandenput L, Coviello AD, Koster A, Bell JT, Bhasin S, Eriksson J, Eriksson A, Ernst F, Ferrucci L, Frayling TM, Glass D, Grundberg E, Haring R, Hedman AK, Hofman A, Kiel DP, Kroemer HK, Liu Y, Lunetta KL, Maggio M, Lorentzon M, Mangino M, Melzer D, Miljkovic I, Nica A, Penninx BW, Vasan RS, Rivadeneira F, Small KS, Soranzo N, Uitterlinden AG, V?lzke H, Wilson SG, Xi L, Zhuang WV, Harris TB, Murabito JM, Ohlsson C, Murray A, de Jong FH, Spector TD, Wallaschofski H. Eight common genetic variants associated with serum DHEAS levels suggest a key role in ageing mechanisms. PLoS Genet. 2011 Apr; 7(4):e1002025. PMID: 21533175.
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    78. Nica AC, Parts L, Glass D, Nisbet J, Barrett A, Sekowska M, Travers M, Potter S, Grundberg E, Small K, Hedman AK, Bataille V, Tzenova Bell J, Surdulescu G, Dimas AS, Ingle C, Nestle FO, di Meglio P, Min JL, Wilk A, Hammond CJ, Hassanali N, Yang TP, Montgomery SB, O'Rahilly S, Lindgren CM, Zondervan KT, Soranzo N, Barroso I, Durbin R, Ahmadi K, Deloukas P, McCarthy MI, Dermitzakis ET, Spector TD. The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet. 2011 Feb 03; 7(2):e1002003. PMID: 21304890.
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    79. Grundberg E, Adoue V, Kwan T, Ge B, Duan QL, Lam KC, Koka V, Kindmark A, Weiss ST, Tantisira K, Mallmin H, Raby BA, Nilsson O, Pastinen T. Global analysis of the impact of environmental perturbation on cis-regulation of gene expression. PLoS Genet. 2011 Jan 20; 7(1):e1001279. PMID: 21283786.
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    81. 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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    82. 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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    83. 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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    84. 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, K?nig 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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    85. 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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    86. Ge B, Pokholok DK, Kwan T, Grundberg E, Morcos L, Verlaan DJ, Le J, Koka V, Lam KC, Gagn? 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, G?ring 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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    87. Rivadeneira F, Styrk?rsdottir U, Estrada K, Halld?rsson 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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    88. Verlaan DJ, Berlivet S, Hunninghake GM, Madore AM, Larivi?re 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, Celed?n 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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    89. 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, Mellstr?m 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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    90. 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, Mellstr?m 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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    91. 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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    92. Ribom EL, Grundberg E, Mallmin H, Ohlsson C, Lorenzon M, Orwoll E, Holmberg AH, Mellstr?m 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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    93. Grundberg E, Lau EM, Lorentzon M, Karlsson M, Holmberg A, Groop L, Mellstr?m D, Orwoll E, Mallmin H, Ohlsson C, Ljunggren ?, ?kesson 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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    94. 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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    95. Khoschnau S, Melhus H, Jacobson A, Rahme H, Bengtsson H, Ribom E, Grundberg E, Mallmin H, Micha?lsson 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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    96. Sigurdsson S, Nordmark G, Garnier S, Grundberg E, Kwan T, Nilsson O, Eloranta ML, Gunnarsson I, Svenungsson E, Sturfelt G, Bengtsson AA, J?nsen A, Truedsson L, Rantap??-Dahlqvist S, Eriksson C, Alm G, G?ring HH, Pastinen T, Syv?nen AC, R?nnblom 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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    97. Grundberg E, Lau EM, Lorentzon M, Lorentzson M, Karlsson M, Holmberg A, Groop L, Mellstr?m 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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    98. Grundberg E, Br?ndstr?m 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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    99. Strandberg L, Mellstr?m 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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    100. Marsell R, Grundberg E, Krajisnik T, Mallmin H, Karlsson M, Mellstr?m 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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    101. 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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    102. Eriksson AL, Mellstr?m 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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    103. Grundberg E, Lau EM, Pastinen T, Kindmark A, Nilsson O, Ljunggren O, Mellstr?m D, Orwoll E, Redlund-Johnell I, Holmberg A, Gurd S, Leung PC, Kwok T, Ohlsson C, Mallmin H, Br?ndstr?m 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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    104. Grundberg E, Akesson K, Kindmark A, Gerdhem P, Holmberg A, Mellstr?m D, Ljunggren O, Orwoll E, Mallmin H, Ohlsson C, Br?ndstr?m 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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    105. 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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    106. Micha?lsson 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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    107. Grundberg E, Ribom EL, Br?ndstr?m 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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    108. Grundberg E, Carling T, Br?ndstr?m 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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    109. Grundberg E, Br?ndstr?m 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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    110. Grundberg E, Br?ndstr?m 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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    111. 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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