Association of AXIN2 with Non-syndromic Oral Clefts in Multiple Populations

Author:

Letra A.12,Bjork B.3,Cooper M.E.4,Szabo-Rogers H.5,Deleyiannis F.W.B.6,Field L.L.7,Czeizel A.E.8,Ma L.9,Garlet G.P.10,Poletta F.A.11,Mereb J.C.12,Lopez-Camelo J.S.13,Castilla E.E.14,Orioli I.M.15,Wendell S.4,Blanton S.H.16,Liu K.5,Hecht J.T.2,Marazita M.L.4,Vieira A.R.4,Silva R.M.12

Affiliation:

1. School of Dentistry, University of Texas Health Science Center at Houston, DBB-202, 6516 MD Anderson Blvd., Houston, TX 77030-3402, USA

2. Pediatric Research Center, University of Texas Health Science Center at Houston, TX, USA

3. Department of Biochemistry, Chicago College of Osteopathic Medicine, Midwestern University, Downers Grove, IL, USA

4. Departments of Oral Biology and Center for Craniofacial and Dental Genetics, School of Dental Medicine, University of Pittsburgh, PA, USA

5. Department of Craniofacial Development, King’s College London, England

6. Departments of Surgery and Otolaryngology, University of Colorado School of Medicine, Denver, CO, USA

7. Department of Medical Genetics, University of British Columbia, Vancouver, BC, Canada

8. Foundation for the Community Control of Hereditary Diseases, Budapest, Hungary

9. School of Stomatology, Beijing University, Beijing, China

10. Department of Biological Sciences, University of São Paulo, Bauru, Brazil

11. ECLAMC (Latin American Collaborative Study of Congenital Malformations) at CEMIC (Center for Medical Education and Clinical Research), Buenos Aires, Argentina

12. ECLAMC at Hospital de Area El Bolsón, Río Negro, Argentina

13. ECLAMC at IMBICE (Multidisciplinary Institute of Cellular Biology), La Plata, Argentina

14. ECLAMC at INAGEMP-CNPq (National Institute of Population Medical Genetics) in the Department of Genetics, Oswaldo Cruz Foundation, Rio de Janeiro, RJ, Brazil

15. ECLAMC (Estudo Colaborativo Latino Americano de Malformações Congênitas) at Departamento de Genética, Instituto de Biologia, Rio de Janeiro, Brazil, and INAGEMP (Instituto Nacional de Genética Médica Populacional), Rio de Janeiro, Brazil

16. University of Miami Miller School of Medicine, Miami, FL, USA

Abstract

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.

Publisher

SAGE Publications

Subject

General Dentistry

Cited by 28 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3