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Association of AXIN2 with non-syndromic oral clefts in multiple populations
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نویسنده
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letra a. ,bjork b. ,cooper m.e. ,szabo-rogers h. ,deleyiannis f.w.b. ,field l.l. ,czeizel a.e. ,ma l. ,garlet g.p. ,poletta f.a. ,mereb j.c. ,lopez-camelo j.s. ,castilla e.e. ,orioli i.m. ,wendell s. ,blanton s.h. ,liu k. ,hecht j.t. ,marazita m.l. ,vieira a.r. ,silva r.m.
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منبع
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journal of dental research - 2012 - دوره : 91 - شماره : 5 - صفحه:473 -478
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چکیده
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We have previously shown the association of axin2 with oral clefts in a us population. here,we expanded our study to explore the association of 11 axin2 markers in 682 cleft families from multiple populations. alleles for each axin2 marker were tested for transmission distortion with clefts by means of the family-based association test. we observed an association with snp rs7224837 and all clefts in the combined populations (p = 0.001),and with snp rs3923086 and cleft lip and palate in asian populations (p = 0.004). we confirmed our association findings in an additional 528 cleft families from the united states (p < 0.009). we tested for gene-gene interaction between axin2 and additional cleft susceptibility loci. we assessed and detected axin2 mrna and protein expression during murine palatogenesis. in addition,we also observed co-localization of axin2 with irf6 proteins,particularly in the epithelium. our results continue to support a role for axin2 in the etiology of human clefting. additional studies should be performed to improve our understanding of the biological mechanisms linking axin2 to oral clefts. © 2012 international & american associations for dental research.
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کلیدواژه
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cleft lip and palate; craniofacial anomalies; gene expression; gene-gene interactions; genetics; wnt pathway
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آدرس
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school of dentistry,university of texas,health science center at houston,dbb-202,6516 md anderson blvd.,houston,tx 77030-3402,united states,pediatric research center,university of texas health,science center,houston,tx, United States, department of biochemistry,chicago college of osteopathic medicine,midwestern university,downers grove,il, United States, departments of oral biology,school of dental medicine,university of pittsburgh,pa, United States, department of craniofacial development,king's college london, United Kingdom, departments of surgery and otolaryngology,university of colorado,school of medicine,denver,co, United States, department of medical genetics,university of british columbia,vancouver,bc, Canada, foundation for the community control of hereditary diseases,budapest, Hungary, school of stomatology,beijing university,beijing, China, department of biological sciences,university of são paulo,bauru, Brazil, eclamc (latin american collaborative study of congenital malformations),cemic (center for medical education and clinical research),buenos aires, Argentina, eclamc at hospital de area el bolsón,río negro, Argentina, eclamc,imbice (multidisciplinary institute of cellular biology),la plata, Argentina, eclamc,department of genetics,oswaldo cruz foundation,rio de janeiro,rj, Brazil, eclamc (estudo colaborativo latino americano de malformações congênitas),departamento de genética,instituto de biologia,rio de janeiro, Brazil, departments of oral biology,school of dental medicine,university of pittsburgh,pa, United States, university of miami miller school of medicine,miami,fl, United States, department of craniofacial development,king's college london, United Kingdom, pediatric research center,university of texas health,science center,houston,tx, United States, departments of oral biology,school of dental medicine,university of pittsburgh,pa, United States, departments of oral biology,school of dental medicine,university of pittsburgh,pa, United States, school of dentistry,university of texas,health science center at houston,dbb-202,6516 md anderson blvd.,houston,tx 77030-3402,united states,pediatric research center,university of texas health,science center,houston,tx, United States
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Authors
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