These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: Association of single-nucleotide polymorphisms in the IRF6 gene with non-syndromic cleft lip with or without cleft palate in the Xinjiang Uyghur population.
    Author: Mijiti A, Ling W, Guli, Moming A.
    Journal: Br J Oral Maxillofac Surg; 2015 Mar; 53(3):268-74. PubMed ID: 25592222.
    Abstract:
    Our main aim was to investigate the association between the interferon regulatory factor (IRF6) gene and non-syndromic cleft lip and palate (nsCLP) in the Xinjiang Uyghur population. Twelve single nucleotide polymorphisms (SNP) were screened in a group of 100 patients with nsCLP and in a control group of 60 unaffected subjects by next generation sequencing using a MiSeq Benchtop Sequencer (Illumina). Our case-control association analysis showed that the SNP marker rs7545538 differed significantly in genotype (codominant model; CC compared with CG compared with GG; p=0.038) and allele frequencies (odds ratio (OR)=1.89, 95% CI 1.18-3.03, p=0.007) between patients with nsCLP and controls. Analysis of the recessive model of inheritance showed that distribution of the recessive model of rs7545538 (GG compared with CC+GC) was significantly higher in patients with nsCLP than in controls (OR=2.5, 95% CI 1.13-5.37, p=0.021) and had a borderline association with an increased risk of nsCLP (OR=2.5, 95% CI 1.13-5.37, p=0.021). Markers rs2235377 and rs2235371 also differed significantly in dominant and over-dominant models of inheritance (p=0.037) while increased G allele frequency was seen in SNP rs2235373 (p=0.03). A haplotype analysis showed four common haplotypes in Block 1: CCGGT>CCGAT>CACAT>TAGAC (in frequency). The 5-marker combination haplotype CCGAT was significantly more common in patients with nsCLP than in controls (p=0.032). In Block 2, the overall distribution of the haplotypes TAC and TAG predicted by the three SNP differed significantly between the patients with nsCLP and control subjects (p=0.009 and 0.003, respectively). Our results showed that genetic polymorphism of the IRF6 gene is associated with increased risk of nsCLP in a Xinjiang Uyghur population.
    [Abstract] [Full Text] [Related] [New Search]