pgen.1010599.g004.tif (331.98 kB)
Chronic kidney disease (CKD) region on chr21 (chr21:34.7–35.2 Mb).
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posted on 2023-01-24, 18:35 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 WangFour Bayesian candidate markers (green dots) were identified in this 510 Kb CKD region. Within the LD of the candidate markers, two putative regulatory SNPs, C12 and C13, were identified from the downstream region and intron of GALNT18 gene. EMSA validation illustrated allele-specific protein-nucleic acid binding of C13 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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