Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese

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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.


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.


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.


The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC.

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