pgen.1010599.s017.docx (424.48 kB)
Download fileChronic kidney disease (CKD) region on chr28.
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posted on 2023-01-24, 18:34 authored by Frode Lingaas, Katarina Tengvall, Johan Høgset Jansen, Lena Pelander, Maria H. Hurst, Theo Meuwissen, Åsa Karlsson, Jennifer R. S. Meadows, Elisabeth Sundström, Stein Istre Thoresen, Ellen Frøysadal Arnet, Ole Albert Guttersrud, Marcin Kierczak, Marjo K. Hytönen, Hannes Lohi, Åke Hedhammar, Kerstin Lindblad-Toh, Chao Wang(A) A 569 Kb CKD region was found on chr28. It contains one candidate marker (green dot) from Bayesian analysis. (B) A putative regulatory SNP (C14) was found in the intergenic region in the CKD region. EMSA confirmed the allele-specific binding of C14 in both HEK293 and MDCK cell lines.
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wide association analysiskidney cell linesfollowing comparative analysisanova test showedtotal four variantsthree intronic variantshuman regulatory datahuman kidney developmentckd phenotypic variation21 ckd regionsdiv >< pchronic kidney disease117 canine cases2 risk allelescanine ckd206 variantsprotective allelescases carriedhuman populationckd regiontop markerssignificantly higherreln </one variantmay enlightenmagi2 </intergenic regiongalnt18 </fgfr2 </also commonaffects 10
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