title: A polymorphic marker associated with non-syndromic cleft lip with or without cleft palate in a population in Heilongjiang Province, northern China.
abstract: OBJECTIVE
  To further assess the roles of the ABCA4 (ATP-binding cassette, sub-family A, member 4) gene in NSCL/P, we investigated two tag SNPs in ABCA4 (rs481931 and rs560426) in a northern Chinese Han population where the prevalence of NSCL/P is high.
  
  
  METHODS
  The two SNPs were examined for association with NSCL/P in 344 patients and 324 healthy controls. Peripheral blood samples were acquired at study enrollment, and DNA samples were extracted. SNPs were genotyped using a mini-sequencing (SNAPSHOT) method.
  
  
  RESULTS
  We observed a significant correlation between the ABCA4 SNP rs560426 and NSCL/P (p=0.0041) but no evidence of association between rs481931 and NSCL/P. The G/G genotype at the rs560426 SNP in ABCA4 gene had an odd ratios of 2.39 (95%CI: 1.38-4.14, p=0.0041) compared with the A/A genotype, and a similar significance was noted in the CL/P subgroup (ORA/G=1.60, 95%CI: 1.09-2.34, ORG/G=2.96, 95%CI: 1.63-5.37 and ORG/G+A/G=1.80, 95%CI: 1.25-2.60, p=0.0007).
  
  
  CONCLUSIONS
  Our study provides further evidence regarding the roles of genetic markers in ABCA4 in NSCL/P development in this northern Chinese Han population. G allele of rs560426 may be a risk factor for developing NSCL/P.
authors.affiliation: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China.
authors.forename: Na
authors.initials: N
authors.lastname: Mi
authors.affiliation: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China.
authors.forename: Yanru
authors.initials: Y
authors.lastname: Hao
authors.affiliation: The Department of Oral Maxillofacial Surgery, College of Stomatology, Harbin Medical University, Harbin, China. Electronic address: jiaoxiaohuidoctor_dds@163.com.
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Jiao
authors.affiliation: The Medical Department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
authors.forename: Xudong
authors.initials: X
authors.lastname: Zheng
authors.affiliation: The Department of Periodontology, The First Affiliated Hospital, Harbin Medical University, Harbin, China.
authors.forename: Jinna
authors.initials: J
authors.lastname: Shi
authors.affiliation: Department of Biostatistics, Public Health College, Harbin Medical University, China.
authors.forename: Yongjie
authors.initials: Y
authors.lastname: Chen
mesh_terms: D018528:ATP-Binding Cassette Transporters / Q000235:genetics*; D000483:Alleles; D016022:Case-Control Studies; D002648:Child; D002675:Child, Preschool; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors
chemical_list: C056475:ABCA4 protein, human; D018528:ATP-Binding Cassette Transporters
keywords: ABCA4; NSCL/P; Polymorphisms; Susceptibility gene