title: Preliminary evidence of an interaction between the CRISPLD2 gene and non-syndromic cleft lip with or without cleft palate (nsCL/P) in Xinjiang Uyghur population, China.
abstract: BACKGROUND
  Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common birth defect results from the genetic factors alone or interactions with environmental changes. Single nucleotide polymorphisms (SNPs) of CRISPLD2 gene have been found to be an etiologic factor in the development of nsCL/P. However, few studies to date focused on the association of genetic variation of CRISPLD2 gene with nsCL/P, and the results are conflicting based on the different study population. The main purpose of the present study was to investigate the association between the CRISPLD2 gene and nsCL/P in Xinjiang Uyghur population.
  
  
  METHODS
  Eighteen SNPs were screened in a group of 200 patients with nsCL/P and in a control group consisting of 180 unaffected individuals by next generation sequencing using MiSeq Benchtop Sequencer (Illumina).
  
  
  RESULTS
  Our case-control association analysis showed that the SNP marker rs1546124 showed statistically significant differences in genotype (CC vs. CG vs. GG P=0.004) and allele frequencies (49% vs. 37.8% OR=1.58; 95% CI=1.19-2.1, P=0.002) between nsCL/P and controls. Under the recessive model of inheritance, the GG homozygotes had an OR of 2.4 (95% CI=1.37-4.18; P=0.002), and the result of significance was maintained even after multiple testing correction. Haplotype combinations of CACC were significantly more frequent in the nsCL/P patients than in controls (P=0.037). Finally, the MDR analysis identified the two-SNP model including rs1546124 and rs4782675 as best combination of possibly interactive polymorphisms (P<0.001).
  
  
  CONCLUSIONS
  Our results demonstrate that genetic polymorphism of CRISPLD2 gene is associated with an increased risk of nsCL/P in a Xinjiang Uyghur population.
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: anwardentist@yahoo.com.
authors.forename: Ainiwaer
authors.initials: A
authors.lastname: Mijiti
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: crstalwl272@126.com.
authors.forename: Wang
authors.initials: W
authors.lastname: Ling
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: kusan1010@163.com.
authors.forename: Abudukelimujiang
authors.initials: A
authors.lastname: Maimaiti
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: anwarsurgeon1010@gmail.com.
authors.forename: Maimaitituxun
authors.initials: M
authors.lastname: Tuerdi
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: 1505036680@qq.com.
authors.forename: Julaiti
authors.initials: J
authors.lastname: Tuerxun
authors.affiliation: Department of Oral and Maxillofacial Surgery, The First Affiliated Hospital of Xinjiang Medical University, No.137 South Li YU-shan Road, New City District 830054 Urumqi, Xinjiang, PR China; Stomatological Research Institute of Xinjiang Uyghur Autonomous Region, Urumqi, Xinjiang 830054, PR China. Electronic address: adili928@hotmail.com.
authors.forename: Adili
authors.initials: A
authors.lastname: Moming
mesh_terms: D044466:Asian People / Q000235:genetics*; D016022:Case-Control Studies; D015815:Cell Adhesion Molecules / Q000235:genetics*; D002681:China; D002971:Cleft Lip / Q000235:genetics*; D002972:Cleft Palate / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D050835:Interferon Regulatory Factors / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C525599:CRISPLD2 protein, human; D015815:Cell Adhesion Molecules; D050835:Interferon Regulatory Factors
keywords: CRISPLD2 gene; Case-control study; Uyghur; nsCL/P