{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,2]],"date-time":"2026-05-02T04:02:22Z","timestamp":1777694542837,"version":"3.51.4"},"reference-count":26,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T00:00:00Z","timestamp":1375401600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Birth Defects Research"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:sec><jats:title>BACKGROUND<\/jats:title><jats:p>Bladder\u2010exstrophy\u2010epispadias 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 <jats:italic>p63<\/jats:italic> as a plausible candidate gene. We conducted a candidate gene association study to further investigate the role of <jats:italic>p63<\/jats:italic> in human BEEC.<\/jats:p><\/jats:sec><jats:sec><jats:title>METHODS<\/jats:title><jats:p>We conducted a family\u2010based association study of <jats:italic>p63<\/jats:italic> 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 <jats:italic>p63<\/jats:italic> with a minor allele frequency\u2009&gt;\u20090.01. Individual and haplotype SNP transmission disequilibrium tests were conducted using Plink and Haploview, respectively. We also examined parent\u2010of\u2010origin effects using paternal asymmetry tests implemented in FAMHAP (<jats:ext-link xmlns:xlink=\"http:\/\/www.w3.org\/1999\/xlink\" xlink:href=\"http:\/\/famhap.meb.uni-bonn.de\/index.html\">http:\/\/famhap.meb.uni\u2010bonn.de\/index.html<\/jats:ext-link>).<\/jats:p><\/jats:sec><jats:sec><jats:title>RESULTS<\/jats:title><jats:p>Nominally 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\u2010of\u2010origin 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>CONCLUSION<\/jats:title><jats:p>The altered transmission of <jats:italic>p63<\/jats:italic> variants in nonsyndromic BEEC patients may be suggestive of its involvement in the disease etiology. Further and large multi\u2010institutional collaborative studies are required to elucidate the role of <jats:italic>p63<\/jats:italic> in nonsyndromic BEEC. <jats:italic>Birth Defects Research (Part A), 97:759\u2013763, 2013<\/jats:italic>. \u00a9 2013 Wiley Periodicals, Inc.<\/jats:p><\/jats:sec>","DOI":"10.1002\/bdra.23161","type":"journal-article","created":{"date-parts":[[2013,8,2]],"date-time":"2013-08-02T09:53:55Z","timestamp":1375437235000},"page":"759-763","source":"Crossref","is-referenced-by-count":10,"title":["Candidate gene association study implicates <i>p63<\/i> in the etiology of nonsyndromic bladder\u2010exstrophy\u2010epispadias complex"],"prefix":"10.1002","volume":"97","author":[{"given":"Lihong","family":"Qi","sequence":"first","affiliation":[{"name":"Department of Public Health Sciences School of Medicine, University of California Davis California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Population Health and Reproduction University of California Davis California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Garima","family":"Yagnik","sequence":"additional","affiliation":[{"name":"Section of Genetics, Department of Pediatrics University of California Davis Sacramento California"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Manuel","family":"Mattheisen","sequence":"additional","affiliation":[{"name":"Department of Biomedicine Aarhus University Aarhus C Denmark"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John P.","family":"Gearhart","sequence":"additional","affiliation":[{"name":"Department of Urology The James Buchanan Brady Urological Institute Johns Hopkins University Baltimore Maryland"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yegappan","family":"lakshmanan","sequence":"additional","affiliation":[{"name":"Children's Hospital of Michigan Department of Pediatric Urology Detroit Michigan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anne\u2010Karolin","family":"Ebert","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology St. Hedwig Hospital Barmherzige Br\u00fcder Regensburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wolfgang","family":"R\u00f6sch","sequence":"additional","affiliation":[{"name":"Department of Pediatric Urology St. Hedwig Hospital Barmherzige Br\u00fcder Regensburg Germany"},{"name":"Department of Pediatric Urology University Medical Center Regensburg  Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michael","family":"Ludwig","sequence":"additional","affiliation":[{"name":"Department of Clinical Chemistry and Clinical Pharmacology University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Markus","family":"Draaken","sequence":"additional","affiliation":[{"name":"Department of Genomics Life and Brain Center, University of Bonn Bonn Germany"},{"name":"Institute of Human Genetics, University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Heiko","family":"Reutter","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University of Bonn Bonn Germany"},{"name":"Department of Neonatology Children's Hospital University of Bonn Bonn Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Simeon A.","family":"Boyadjiev","sequence":"additional","affiliation":[{"name":"Department of Urology The James Buchanan Brady Urological Institute Johns Hopkins University Baltimore Maryland"},{"name":"Section of Genetics, Department of Pediatrics University of California Davis Sacramento California"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,8,2]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth457"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1464-410X.2004.05170.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ygeno.2005.01.002"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1211"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1242\/dev.02621"},{"key":"e_1_2_5_7_1","first-page":"861","article-title":"p63 (TP73L) a key player in embryonic urogenital development with significant dysregulation in human bladder exstrophy tissue","volume":"26","author":"Ching BJ","year":"2010","journal-title":"Int J Mol Med"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.12.005"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-4-23"},{"key":"e_1_2_5_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpedsurg.2003.11.034"},{"key":"e_1_2_5_11_1","doi-asserted-by":"publisher","DOI":"10.1101\/sqb.2003.68.69"},{"key":"e_1_2_5_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.juro.2007.11.092"},{"issue":"2","key":"e_1_2_5_13_1","doi-asserted-by":"crossref","first-page":"1060","DOI":"10.1016\/S0022-5347(17)43502-6","article-title":"Cloacal exstrophy: a report of 34 cases","volume":"138","author":"Hurwitz RS","year":"1987","journal-title":"J Urol"},{"key":"e_1_2_5_14_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9440(10)64387-8"},{"key":"e_1_2_5_15_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00383-008-2193-x"},{"key":"e_1_2_5_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.20557"},{"key":"e_1_2_5_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.11.004"},{"key":"e_1_2_5_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/519795"},{"key":"e_1_2_5_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/19.1.149"},{"key":"e_1_2_5_20_1","first-page":"755","article-title":"Genome\u2010wide expression profiling of urinary bladder implicates desmosomal and cytoskeletal dysregulation in the bladder exstrophy\u2010epispadias complex","volume":"27","author":"Qi L","year":"2011","journal-title":"Int J Mol Med"},{"key":"e_1_2_5_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31975"},{"key":"e_1_2_5_22_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.20057"},{"key":"e_1_2_5_23_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5347(17)49605-4"},{"key":"e_1_2_5_24_1","first-page":"506","article-title":"Transmission test for linkage disequilibrium: the insulin gene region and insulin\u2010dependent diabetes mellitus (IDDM)","volume":"52","author":"Spielman RS","year":"1993","journal-title":"Am J Hum Genet"},{"key":"e_1_2_5_25_1","doi-asserted-by":"crossref","unstructured":"WeinbergCR. (1999).Methods for detection of parent\u2010of\u2010origin effects in genetic studies of case\u2013parent triads.Am J Hum Genet65:229\u2013235.","DOI":"10.1086\/302466"},{"key":"e_1_2_5_26_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.02.003"},{"key":"e_1_2_5_27_1","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1003070"}],"container-title":["Birth Defects Research Part A: Clinical and Molecular Teratology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fbdra.23161","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/bdra.23161","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,6]],"date-time":"2023-10-06T21:23:19Z","timestamp":1696627399000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/bdra.23161"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8,2]]},"references-count":26,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1002\/bdra.23161"],"URL":"https:\/\/doi.org\/10.1002\/bdra.23161","archive":["Portico"],"relation":{},"ISSN":["1542-0752","1542-0760"],"issn-type":[{"value":"1542-0752","type":"print"},{"value":"1542-0760","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,8,2]]}}}