title: Associations between EYA1 single-nucleotide polymorphisms and non-syndromic orofacial clefts in Western Han Chinese.
abstract: BACKGROUND
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  Weak evidence of LD was found between these markers (D' = 0.573, r(2) = 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.
  
  
  CONCLUSIONS
  The results showed evidence of weak association between the two SNPs of EYA1 (rs13260349 and rs2380716) and NSOC.
authors.affiliation: 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.
authors.forename: Ni
authors.initials: N
authors.lastname: Zeng
authors.forename: Jun
authors.initials: J
authors.lastname: Wu
authors.forename: Wen-Chao
authors.initials: WC
authors.lastname: Zhu
authors.forename: Li
authors.initials: L
authors.lastname: Ma
authors.forename: Zhong-Lin
authors.initials: ZL
authors.lastname: Jia
authors.forename: Bing
authors.initials: B
authors.lastname: Shi
mesh_terms: D000483:Alleles; D002681:China / Q000208:ethnology; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D003596:Cytosine; D005006:Ethnicity / Q000235:genetics*; D005260:Female; D005787:Gene Frequency / Q000235:genetics; D005838:Genotype; D006239:Haplotypes / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007438:Introns / Q000235:genetics; D015810:Linkage Disequilibrium / Q000235:genetics; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D012150:Polymorphism, Restriction Fragment Length / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017027:Protein Tyrosine Phosphatases / Q000235:genetics*; D013941:Thymine
chemical_list: D047908:Intracellular Signaling Peptides and Proteins; D009687:Nuclear Proteins; D003596:Cytosine; C104381:EYA1 protein, human; D017027:Protein Tyrosine Phosphatases; D013941:Thymine
keywords: EYA1; Non-syndromic orofacial clefts; single-nucleotide polymorphisms