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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. doi: 10.1007/s00223-002-0032-y. Epub 2003 Sep 10. PubMed PMID: 12958689.
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. doi: 10.1530/eje.0.1500323. PubMed PMID: 15012617.
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. doi: 10.1210/jc.2004-0403. PubMed PMID: 15579774.
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. doi: 10.1016/j.maturitas.2004.05.012. PubMed PMID: 15734595.
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. doi: 10.1016/j.bone.2006.06.003. Epub 2006 Jul 24. PubMed PMID: 16860619.
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. doi: 10.1016/j.jsbmb.2006.09.035. Epub 2006 Nov 13. PubMed PMID: 17095210.
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. doi: 10.1210/jc.2006-1572. Epub 2007 Mar 13. PubMed PMID: 17356055.
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. doi: 10.1359/jbmr.070317. PubMed PMID: 17371163.
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. doi: 10.1016/j.bone.2007.08.045. Epub 2007 Sep 18. PubMed PMID: 17962094.
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. doi: 10.1007/s00439-007-0440-1. Epub 2007 Oct 23. PubMed PMID: 17955261.
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. doi: 10.1530/EJE-07-0534. PubMed PMID: 18166826.
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. doi: 10.1038/oby.2007.95. Epub 2008 Jan 17. PubMed PMID: 18239554.
van Meurs JB, Trikalinos TA, Ralston SH, Balcells S, Brandi ML, Brixen K, Kiel DP, Langdahl BL, Lips P, Ljunggren O, Lorenc R, Obermayer-Pietsch B, Ohlsson C, Pettersson U, Reid DM, Rousseau F, Scollen S, Van Hul W, Agueda L, Akesson K, Benevolenskaya LI, Ferrari SL, Hallmans G, Hofman A, Husted LB, Kruk M, Kaptoge S, Karasik D, Karlsson MK, Lorentzon M, Masi L, McGuigan FE, Mellström D, Mosekilde L, Nogues X, Pols HA, Reeve J, Renner W, Rivadeneira F, van Schoor NM, Weber K, Ioannidis JP, Uitterlinden AG. Large-scale analysis of association between LRP5 and LRP6 variants and osteoporosis. JAMA. 2008 Mar 19;299(11):1277-90. doi: 10.1001/jama.299.11.1277. PubMed PMID: 18349089; PubMed Central PMCID: PMC3282142.
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. doi: 10.1152/physiolgenomics.00028.2008. Epub 2008 Mar 11. PubMed PMID: 18334548.
Grundberg E, Lau EM, Lorentzon 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. doi: 10.1007/s00198-007-0512-z. PubMed PMID: 18026682.
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. doi: 10.1093/hmg/ddn184. Epub 2008 Jun 25. PubMed PMID: 18579578; PubMed Central PMCID: PMC2525501.
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. doi: 10.1177/0363546508320805. Epub 2008 Jul 31. PubMed PMID: 18669982.
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. doi: 10.1101/gr.084798.108. Epub 2008 Oct 29. PubMed PMID: 18971308; PubMed Central PMCID: PMC2612965.
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. doi: 10.1002/humu.21001. PubMed PMID: 19370762.
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. doi: 10.1016/j.archger.2008.09.003. Epub 2008 Nov 4. PubMed PMID: 18986717.
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. doi: 10.1371/journal.pgen.1000608. Epub 2009 Aug 14. PubMed PMID: 19680542; PubMed Central PMCID: PMC2719916.
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. doi: 10.1016/j.ajhg.2009.08.007. PubMed PMID: 19732864; PubMed Central PMCID: PMC2771592.
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. doi: 10.1101/gr.095224.109. Epub 2009 Aug 4. PubMed PMID: 19654370; PubMed Central PMCID: PMC2775606.
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. doi: 10.1038/ng.473. Epub 2009 Oct 18. PubMed PMID: 19838192.
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. doi: 10.1038/ng.446. Epub 2009 Oct 4. PubMed PMID: 19801982; PubMed Central PMCID: PMC2783489.
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. doi: 10.1359/jbmr.090530. PubMed PMID: 19453265.
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. doi: 10.1371/journal.pgen.1000768. Epub 2009 Dec 11. PubMed PMID: 20011104; PubMed Central PMCID: PMC2781107.
Grundberg E, Kwan T, Pastinen TM. Analysis of the impact of genetic variation on human gene expression. Methods Mol Biol. 2010;628:321-39. doi: 10.1007/978-1-60327-367-1_18. Review. PubMed PMID: 20238090.
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 1;5(1):50-60. doi: 10.4161/epi.5.1.10436. Epub 2010 Jan 26. PubMed PMID: 20026906.
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. doi: 10.1371/journal.pgen.1000977. PubMed PMID: 20548944; PubMed Central PMCID: PMC2883588.
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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. doi: 10.1371/journal.pgen.1001279. PubMed PMID: 21283786; PubMed Central PMCID: PMC3024267.
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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. doi: 10.1038/ng.833. Epub 2011 May 15. PubMed PMID: 21572415; PubMed Central PMCID: PMC3192952.
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