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Disease variants alter transcription factor levels and methylation of their binding sites.
Bonder MJ, Luijk R, Zhernakova DV, Moed M, Deelen P, Vermaat M, van Iterson M, van Dijk F, van Galen M, Bot J, Slieker RC, Jhamai PM, Verbiest M, Suchiman HE, Verkerk M, van der Breggen R, van Rooij J, Lakenberg N, Arindrarto W, Kielbasa SM, Jonkers I, van 't Hof P, Nooren I, Beekman M, Deelen J, van Heemst D, Zhernakova A, Tigchelaar EF, Swertz MA, Hofman A, Uitterlinden AG, Pool R, van Dongen J, Hottenga JJ, Stehouwer CD, van der Kallen CJ, Schalkwijk CG, van den Berg LH, van Zwet EW, Mei H, Li Y, Lemire M, Hudson TJ; BIOS Consortium; Slagboom PE, Wijmenga C, Veldink JH, van Greevenbroek MM, van Duijn CM, Boomsma DI, Isaacs A, Jansen R, van Meurs JB, 't Hoen PA, Franke L, Heijmans BT. Bonder MJ, et al. Among authors: zhernakova dv, zhernakova a. Nat Genet. 2017 Jan;49(1):131-138. doi: 10.1038/ng.3721. Epub 2016 Dec 5. Nat Genet. 2017. PMID: 27918535
Myosin IXB variant increases the risk of celiac disease and points toward a primary intestinal barrier defect.
Monsuur AJ, de Bakker PI, Alizadeh BZ, Zhernakova A, Bevova MR, Strengman E, Franke L, van't Slot R, van Belzen MJ, Lavrijsen IC, Diosdado B, Daly MJ, Mulder CJ, Mearin ML, Meijer JW, Meijer GA, van Oort E, Wapenaar MC, Koeleman BP, Wijmenga C. Monsuur AJ, et al. Among authors: zhernakova a. Nat Genet. 2005 Dec;37(12):1341-4. doi: 10.1038/ng1680. Epub 2005 Nov 13. Nat Genet. 2005. PMID: 16282976
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21.
van Heel DA, Franke L, Hunt KA, Gwilliam R, Zhernakova A, Inouye M, Wapenaar MC, Barnardo MC, Bethel G, Holmes GK, Feighery C, Jewell D, Kelleher D, Kumar P, Travis S, Walters JR, Sanders DS, Howdle P, Swift J, Playford RJ, McLaren WM, Mearin ML, Mulder CJ, McManus R, McGinnis R, Cardon LR, Deloukas P, Wijmenga C. van Heel DA, et al. Among authors: zhernakova a. Nat Genet. 2007 Jul;39(7):827-9. doi: 10.1038/ng2058. Epub 2007 Jun 10. Nat Genet. 2007. PMID: 17558408 Free PMC article.
The MYO9B gene is a strong risk factor for developing refractory celiac disease.
Wolters VM, Verbeek WH, Zhernakova A, Onland-Moret C, Schreurs MW, Monsuur AJ, Verduijn W, Wijmenga C, Mulder CJ. Wolters VM, et al. Among authors: zhernakova a. Clin Gastroenterol Hepatol. 2007 Dec;5(12):1399-405, 1405.e1-2. doi: 10.1016/j.cgh.2007.08.018. Epub 2007 Oct 29. Clin Gastroenterol Hepatol. 2007. PMID: 17967566
218 results