dc.contributor.author | Liu, M. | en |
dc.contributor.author | Shi, S. | en |
dc.contributor.author | Senthilnathan, S. | en |
dc.contributor.author | Yu, J. | en |
dc.contributor.author | Wu, E. | en |
dc.contributor.author | Bergmann, C. | en |
dc.contributor.author | Zerres, K. | en |
dc.contributor.author | Bogdanova, N. | en |
dc.contributor.author | Coto, E. | en |
dc.contributor.author | Constantinou-Deltas, Constantinos D. | en |
dc.contributor.author | Pierides, Alkis M. | en |
dc.contributor.author | Demetriou, Kyproula | en |
dc.contributor.author | Devuyst, O. | en |
dc.contributor.author | Gitomer, B. | en |
dc.contributor.author | Laakso, M. | en |
dc.contributor.author | Lumiaho, A. | en |
dc.contributor.author | Lamnissou, Klea | en |
dc.contributor.author | Magistroni, R. | en |
dc.contributor.author | Parfrey, P. | en |
dc.contributor.author | Breuning, M. | en |
dc.contributor.author | Peters, D. J. M. | en |
dc.contributor.author | Torra, R. | en |
dc.contributor.author | Winearls, C. G. | en |
dc.contributor.author | Torres, V. E. | en |
dc.contributor.author | Harris, Peter C. | en |
dc.contributor.author | Paterson, A. D. | en |
dc.contributor.author | Pei, Y. | en |
dc.creator | Liu, M. | en |
dc.creator | Shi, S. | en |
dc.creator | Senthilnathan, S. | en |
dc.creator | Yu, J. | en |
dc.creator | Wu, E. | en |
dc.creator | Bergmann, C. | en |
dc.creator | Zerres, K. | en |
dc.creator | Bogdanova, N. | en |
dc.creator | Coto, E. | en |
dc.creator | Constantinou-Deltas, Constantinos D. | en |
dc.creator | Pierides, Alkis M. | en |
dc.creator | Demetriou, Kyproula | en |
dc.creator | Devuyst, O. | en |
dc.creator | Gitomer, B. | en |
dc.creator | Laakso, M. | en |
dc.creator | Lumiaho, A. | en |
dc.creator | Lamnissou, Klea | en |
dc.creator | Magistroni, R. | en |
dc.creator | Parfrey, P. | en |
dc.creator | Breuning, M. | en |
dc.creator | Peters, D. J. M. | en |
dc.creator | Torra, R. | en |
dc.creator | Winearls, C. G. | en |
dc.creator | Torres, V. E. | en |
dc.creator | Harris, Peter C. | en |
dc.creator | Paterson, A. D. | en |
dc.creator | Pei, Y. | en |
dc.date.accessioned | 2019-11-04T12:52:18Z | |
dc.date.available | 2019-11-04T12:52:18Z | |
dc.date.issued | 2010 | |
dc.identifier.issn | 1046-6673 | |
dc.identifier.uri | http://gnosis.library.ucy.ac.cy/handle/7/53230 | |
dc.description.abstract | Significant variation in the course of autosomal dominant polycystic kidney disease (ADPKD) within families suggests the presence of effect modifiers. Recent studies of the variation within families harboring PKD1 mutations indicate that genetic background may account for 32 to 42% of the variance in estimated GFR (eGFR) before ESRD and 43 to 78% of the variance in age at ESRD onset, but the genetic modifiers are unknown. Here, we conducted a high-throughput single-nucleotide polymorphism (SNP) genotyping association study of 173 biological candidate genes in 794 white patients from 227 families with PKD1. We analyzed two primary outcomes: (1) eGFR and (2) time to ESRD (renal survival). For both outcomes, we used multidimensional scaling to correct for population structure and generalized estimating equations to account for the relatedness among individuals within the same family. We found suggestive associations between each of 12 SNPs and at least one of the renal outcomes. We genotyped these SNPs in a second set of 472 white patients from 229 families with PKD1 and performed a joint analysis on both cohorts. Three SNPs continued to show suggestive/significant association with eGFR at the Dickkopf 3 (DKK3) gene locus | en |
dc.description.abstract | no SNPs significantly associated with renal survival. DKK3 antagonizes Wnt/β-catenin signaling, which may modulate renal cyst growth. Pending replication, our study suggests that genetic variation of DKK3 may modify severity of ADPKD resulting from PKD1 mutations. Copyright © 2010 by the American Society of Nephrology. | en |
dc.source | Journal of the American Society of Nephrology | en |
dc.source.uri | https://www.scopus.com/inward/record.uri?eid=2-s2.0-77956553281&doi=10.1681%2fASN.2010030237&partnerID=40&md5=703b320b38eb4aacf7c2de697cdca551 | |
dc.subject | article | en |
dc.subject | human | en |
dc.subject | Humans | en |
dc.subject | adult | en |
dc.subject | major clinical study | en |
dc.subject | priority journal | en |
dc.subject | adolescent | en |
dc.subject | kidney polycystic disease | en |
dc.subject | gene | en |
dc.subject | single nucleotide polymorphism | en |
dc.subject | genotype | en |
dc.subject | middle aged | en |
dc.subject | cohort analysis | en |
dc.subject | kidney disease | en |
dc.subject | phenotype | en |
dc.subject | genetics | en |
dc.subject | gene mutation | en |
dc.subject | beta catenin | en |
dc.subject | Wnt protein | en |
dc.subject | Cohort Studies | en |
dc.subject | Intercellular Signaling Peptides and Proteins | en |
dc.subject | kidney failure | en |
dc.subject | mutation | en |
dc.subject | genetic variability | en |
dc.subject | gene locus | en |
dc.subject | glomerulus filtration rate | en |
dc.subject | Polycystic Kidney, Autosomal Dominant | en |
dc.subject | polycystin | en |
dc.subject | TRPP Cation Channels | en |
dc.subject | kidney cyst | en |
dc.subject | polycystic kidney disease 1 protein | en |
dc.subject | Polymorphism, Single Nucleotide | en |
dc.subject | DKK3 gene | en |
dc.subject | DKK3 protein, human | en |
dc.subject | signal peptide | en |
dc.title | Genetic variation of DKK3 may modify renal disease severity in ADPKD | en |
dc.type | info:eu-repo/semantics/article | |
dc.identifier.doi | 10.1681/ASN.2010030237 | |
dc.description.volume | 21 | |
dc.description.startingpage | 1510 | |
dc.description.endingpage | 1520 | |
dc.author.faculty | Σχολή Θετικών και Εφαρμοσμένων Επιστημών / Faculty of Pure and Applied Sciences | |
dc.author.department | Τμήμα Βιολογικών Επιστημών / Department of Biological Sciences | |
dc.type.uhtype | Article | en |
dc.description.notes | <p>Cited By :31</p> | en |
dc.source.abbreviation | J.Am.Soc.Nephrol. | en |
dc.contributor.orcid | Constantinou-Deltas, Constantinos D. [0000-0001-5549-9169] | |
dc.gnosis.orcid | 0000-0001-5549-9169 | |