A Common Variant at 11q23.3 Is Associated with Susceptibility to Atopic Dermatitis in the Han Chinese Population.

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  • Additional Information
    • Source:
      Publisher: Mary Ann Liebert, Inc Country of Publication: United States NLM ID: 101494210 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1945-0257 (Electronic) Linking ISSN: 19450257 NLM ISO Abbreviation: Genet Test Mol Biomarkers Subsets: MEDLINE
    • Publication Information:
      Original Publication: New Rochelle, NY : Mary Ann Liebert, Inc.
    • Subject Terms:
      Genetic Loci* ; Genetic Predisposition to Disease*; Chromosomes, Human, Pair 11/*genetics ; Dermatitis, Atopic/*genetics; Adolescent ; Adult ; Asian People/genetics ; Case-Control Studies ; Child ; Child, Preschool ; China/epidemiology ; Dermatitis, Atopic/epidemiology ; Female ; Genome-Wide Association Study ; Humans ; Infant ; Infant, Newborn ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Young Adult
    • Abstract:
      Background: Genome-wide association studies (GWASs) have identified many genetic variants that are risk factors for numerous immune-mediated diseases. In particular, different immune-mediated diseases have been found to share the same susceptibility loci. Therefore, exploring the genetic overlap between atopic dermatitis (AD) and other immune-mediated diseases in more detail may help identify additional shared susceptibility loci among common immune-mediated diseases. Recent evidence suggests that the 11q23.3 locus is a susceptibility locus shared among multiple immune-mediated diseases. Objective: This study was designed to investigated whether SNPs at the chromosome 11q23.3 locus are associated with AD in the Han Chinese population. Methods: In total, 16 SNPs within the 11q23.3 locus were genotyped using TaqMan assays for 1,012 AD cases and 1,362 controls. From these SNPs, we selected rs638893 with an association values of p  < 5 × 10 -2 for AD for further analysis in an independent replication study using the Sequenom MassARRAY system to genotype an additional (consisting of 1,288 cases and 1,380 controls). The combined analyses were performed in two stages using a meta-analytical method. Results: We identified a common variant at 11q23.3 (rs638893), that was significantly associated ( p  = 1.58 × 10 -3 , OR = 1.22) with AD. The genotype-based association analysis revealed that the recessive model provided the best fit for rs638893. Conclusion: Our study identified a variant on chromosome 11q23.3 that likely confers susceptibility to AD, thereby advancing our understanding of the genetic basis of this disease.
    • Contributed Indexing:
      Keywords: 11q23.3; association analyses; atopic dermatitis; single nucleotide polymorphisms (SNPs)
    • Publication Date:
      Date Created: 20211005 Date Completed: 20220215 Latest Revision: 20221207
    • Publication Date:
      20240105
    • Accession Number:
      10.1089/gtmb.2020.0335
    • Accession Number:
      34609929