fa Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese جراحی دهان، فک و صورت Oral and Maxillofacial Surgery پژوهشي Research <p> <strong>Background</strong></p><p>  Non-syndromic orofacial clefts (NSOC) are the most common craniofacial birth defects and are considered as complex and multifactorial diseases involving the interplay of genetic predisposition and environmental exposures. Recent studies demonstrated that EYA1, a member of eye absent gene family, might contribute to the development of orofacial clefts. This study aimed to evaluate the association between EYA1 gene polymorphism and NSOC in western Chinese population. </p><p> <strong>Method</strong> </p><p> Two single-nucleotide polymorphisms, rs13260349 and rs2380716, were investigated among 199 case–parent trios, and the linkage disequilibrium (LD) test, transmission disequilibrium test, family based association test, and haplotype analysis were performed. </p><p> <strong>Results</strong></p><p>  Weak evidence of LD was found between these markers (D' = 0.573, r2 = 0.218) allel C and genotype C/C at rs13260349 showed an overtransmission in CL/P haplotype T-T (rs13260349-rs2380716) displayed an association with NSOC and CL/P. </p><p> <strong>Conclusions</strong> </p><p> The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC. </p><hr><p></p><p> <strong>Source: </strong>Journal of Oral Pathology & Medicine</p><p><a href="http://onlinelibrary.wiley.com/doi/10.1111/jop.12063/abstract" target="_blank"><font color="#0000ff"> Full Text</font></a></p> EYA1;Non-syndromic orofacial clefts;single-nucleotide polymorphisms 0 0 http://idai.ir/browse.php?a_code=A-10-32-2310&slc_lang=fa&sid=1 Ni Zeng 100319475328460011004 100319475328460011004 No State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China Jun Wu 100319475328460011005 100319475328460011005 No State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China Wen-Chao Zhu 100319475328460011006 100319475328460011006 No State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China Li Ma 100319475328460011007 100319475328460011007 No State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China Zhong-Lin Jia 100319475328460011008 100319475328460011008 No State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China Bing Shi shibingcn@vip.sina.com 100319475328460011009 100319475328460011009 Yes State Key Laboratory of Oral Diseases, West China Hospital of Stomatology, Sichuan University, Chengdu, China/Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University, Chengdu, China