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Adolescent idiopathic scoliosis (AIS) is the most common spinal deformity. We previously conducted a genome-wide association study (GWAS) and detected two loci associated with AIS. To identify additional loci, we extended our GWAS by increasing the number of cohorts (2,109 affected subjects and 11,140 control subjects in total) and conducting a whole-genome imputation. Through the extended GWAS and replication studies using independent Japanese and Chinese populations, we identified a susceptibility locus on chromosome 9p22.2 (p = 2.46 × 10(-13); odds ratio = 1.21). The most significantly associated SNPs were in intron 3 of BNC2, which encodes a zinc finger transcription factor, basonuclin-2. Expression quantitative trait loci data suggested that the associated SNPs have the potential to regulate the BNC2 transcriptional activity and that the susceptibility alleles increase BNC2 expression. We identified a functional SNP, rs10738445 in BNC2, whose susceptibility allele showed both higher binding to a transcription factor, YY1 (yin and yang 1), and higher BNC2 enhancer activity than the non-susceptibility allele. BNC2 overexpression produced body curvature in developing zebrafish in a gene-dosage-dependent manner. Our results suggest that increased BNC2 expression is implicated in the etiology of AIS.

Titel:	A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.
Autor/in / Beteiligte Person:	Ogura, Y ; Kou, I ; Miura, S ; Takahashi, A ; Xu, L ; Takeda, K ; Takahashi, Y ; Kono, K ; Kawakami, N ; Uno, K ; Ito, M ; Minami, S ; Yonezawa, I ; Yanagida, H ; Taneichi, H ; Zhu, Z ; Tsuji, T ; Suzuki, T ; Sudo, H ; Kotani, T ; Watanabe, K ; Hosogane, N ; Okada, E ; Iida, A ; Nakajima, M ; Sudo, A ; Chiba, K ; Hiraki, Y ; Toyama, Y ; Qiu, Y ; Shukunami, C ; Kamatani, Y ; Kubo, M ; Matsumoto, M ; Ikegawa, S
Link:	Full Text Finder (Volltext)
Zeitschrift:	American journal of human genetics, Jg. 97 (2015-08-06), Heft 2, S. 337-42
Veröffentlichung:	2008- : [Cambridge, MA] : Cell Press ; <i>Original Publication</i>: Baltimore, American Society of Human Genetics., 2015
Medientyp:	academicJournal
ISSN:	1537-6605 (electronic)
DOI:	10.1016/j.ajhg.2015.06.012
Schlagwort:	Adolescent Animals China DNA-Binding Proteins metabolism Embryo, Nonmammalian metabolism Embryo, Nonmammalian pathology Genome-Wide Association Study Humans Japan Luciferases Odds Ratio Scoliosis pathology YY1 Transcription Factor metabolism Zebrafish Chromosomes, Human, Pair 9 genetics DNA-Binding Proteins genetics Genetic Predisposition to Disease Phenotype Polymorphism, Single Nucleotide genetics Scoliosis genetics
Sonstiges:	Nachgewiesen in: MEDLINE Sprachen: English Publication Type: Journal Article Language: English [Am J Hum Genet] 2015 Aug 06; Vol. 97 (2), pp. 337-42. <i>Date of Electronic Publication: </i>2015 Jul 23. MeSH Terms: Genetic Predisposition to Disease* ; Phenotype* ; Chromosomes, Human, Pair 9 / genetics ; DNA-Binding Proteins / genetics ; Polymorphism, Single Nucleotide / genetics ; Scoliosis / genetics ; Adolescent ; Animals ; China ; DNA-Binding Proteins / metabolism ; Embryo, Nonmammalian / metabolism ; Embryo, Nonmammalian / pathology ; Genome-Wide Association Study ; Humans ; Japan ; Luciferases ; Odds Ratio ; Scoliosis / pathology ; YY1 Transcription Factor / metabolism ; Zebrafish References: J Orthop Res. 2012 Sep;30(9):1464-9. (PMID: 22362628) ; Spine (Phila Pa 1976). 1999 Dec 15;24(24):2592-600. (PMID: 10635522) ; Eur Spine J. 2013 Feb;22(2):282-6. (PMID: 23096252) ; Nat Genet. 2013 Jun;45(6):676-9. (PMID: 23666238) ; J Med Genet. 2014 Jun;51(6):401-6. (PMID: 24721834) ; Nat Genet. 2014 Sep;46(9):1012-6. (PMID: 25064007) ; Dev Dyn. 2014 Dec;243(12):1646-57. (PMID: 25283277) ; J Orthop Sci. 2011 Jan;16(1):1-6. (PMID: 21293892) ; Nat Rev Mol Cell Biol. 2003 Aug;4(8):605-12. (PMID: 12923522) ; Nucleic Acids Res. 2004 Jan 1;32(Database issue):D91-4. (PMID: 14681366) ; Proc Natl Acad Sci U S A. 2004 Mar 9;101(10):3468-73. (PMID: 14988505) ; Genomics. 2004 May;83(5):821-33. (PMID: 15081112) ; Dev Med Child Neurol. 1973 Dec;15(6):809-11. (PMID: 4767654) ; Dev Dyn. 2007 Nov;236(11):3088-99. (PMID: 17937395) ; Clin Adv Hematol Oncol. 2007 Sep;5(9):696-7. (PMID: 17982410) ; Proc Natl Acad Sci U S A. 2009 Aug 25;106(34):14432-7. (PMID: 19706529) ; PLoS Genet. 2009 Nov;5(11):e1000744. (PMID: 19956727) ; Am J Med Genet A. 2010 May;152A(5):1178-88. (PMID: 20425822) ; Bioinformatics. 2010 Oct 1;26(19):2474-6. (PMID: 20702402) ; Nat Genet. 2011 Dec;43(12):1237-40. (PMID: 22019779) ; J Hum Genet. 2012 Apr;57(4):244-6. (PMID: 22301463) ; Biochimie. 2011 Feb;93(2):127-33. (PMID: 20870008) ; Nat Commun. 2015;6:6452. (PMID: 25784220) ; J Orthop Res. 2011 Jul;29(7):1055-8. (PMID: 21308753) ; Gene. 1999 Nov 15;240(1):239-44. (PMID: 10564832) ; Nat Genet. 2012 Aug;44(8):900-3. (PMID: 22797724) Substance Nomenclature: 0 (BNC2 protein, human) ; 0 (DNA-Binding Proteins) ; 0 (YY1 Transcription Factor) ; 0 (YY1 protein, human) ; EC 1.13.12.- (Luciferases) Entry Date(s): Date Created: 20150728 Date Completed: 20151029 Latest Revision: 20220318 Update Code: 20240513 PubMed Central ID: PMC4573260

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A Functional SNP in BNC2 Is Associated with Adolescent Idiopathic Scoliosis.