Qi, Lihong and Wang, Mei and Yagnik, Garima and Mattheisen, Manuel and Gearhart, John P. and Lakshmanan, Yegappan and Ebert, Anne-Karolin and Roesch, Wolfgang and Ludwig, Michael and Draaken, Markus and Reutter, Heiko and Boyadjiev, Simeon A. (2013) Candidate Gene Association Study Implicates p63 in the Etiology of Nonsyndromic Bladder-Exstrophy-Epispadias Complex. BIRTH DEFECTS RESEARCH PART A-CLINICAL AND MOLECULAR TERATOLOGY, 97 (12). pp. 759-763. ISSN 1542-0752, 1542-0760
Full text not available from this repository. (Request a copy)Abstract
BACKGROUNDBladder-exstrophy-epispadias complex (BEEC) is a severe congenital anomaly that represents a spectrum of urological abnormalities where parts or all of the distal urinary tract fail to close during development. Multiple lines of evidence strongly suggested p63 as a plausible candidate gene. We conducted a candidate gene association study to further investigate the role of p63 in human BEEC. METHODSWe conducted a family-based association study of p63 using 154 Caucasian patients with nonsyndromic BEEC and their unaffected parents. High throughput single nucleotide polymorphism (SNP) genotyping was carried out using Illumina's Golden Gate Assay for 109 selected tagging SNPs localized within p63 with a minor allele frequency>0.01. Individual and haplotype SNP transmission disequilibrium tests were conducted using Plink and Haploview, respectively. We also examined parent-of-origin effects using paternal asymmetry tests implemented in FAMHAP (http://famhap.meb.uni-bonn.de/index.html). RESULTSNominally significant associations were identified between BEEC and six SNPs (rs17447782, rs1913720, rs6790167, rs9865857, rs1543969, rs4687100), and four haplotype blocks including or near these significant SNPs. Analysis of parent-of-origin effects showed significant results for seven SNPs (rs4118375, rs12696596, rs6779677, rs13091309, rs7642420, rs1913721, and rs1399774). None of these results remained significant after multiple testing correction. CONCLUSIONThe altered transmission of p63 variants in nonsyndromic BEEC patients may be suggestive of its involvement in the disease etiology. Further and large multi-institutional collaborative studies are required to elucidate the role of p63 in nonsyndromic BEEC. Birth Defects Research (Part A), 97:759-763, 2013. (c) 2013 Wiley Periodicals, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LINKAGE; MALFORMATIONS; DYSREGULATION; FAMILIES; CLOACA; FGF10; association study; BEEC; bladder exstrophy; case-parent trio; candidate gene; epispadias; p63 |
| Subjects: | 500 Science > 570 Life sciences |
| Divisions: | Medicine > Lehrstuhl für Urologie |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 24 Mar 2020 13:23 |
| Last Modified: | 24 Mar 2020 13:23 |
| URI: | https://pred.uni-regensburg.de/id/eprint/15571 |
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