Gene Environment Interactions Between the COL9A1 Gene and Maternal Drinking of Alcohol Contribute to the Risk of Congenital Talipes Equinovarus.

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  • Author(s): Zhao J;Zhao J; Cai F; Cai F; Liu P; Liu P; Wei J; Wei J; Chen Q; Chen Q
  • Source:
    Genetic testing and molecular biomarkers [Genet Test Mol Biomarkers] 2021 Jan; Vol. 25 (1), pp. 48-54. Date of Electronic Publication: 2020 Dec 28.
  • Publication Type:
    Clinical Trial; Journal Article
  • Language:
    English
  • 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:
      Asian People* ; Gene-Environment Interaction* ; Genetic Predisposition to Disease* ; Polymorphism, Single Nucleotide*; Alcohol Drinking/*adverse effects ; Clubfoot/*genetics ; Collagen Type IX/*genetics ; Maternal Exposure/*adverse effects; Child ; Child, Preschool ; Clubfoot/etiology ; Female ; Humans ; Infant ; Male
    • Abstract:
      Background: Previous studies have indicated that both genetic and environmental factors contribute to the risk of congenital talipes equinovarus (CTEV). The COL9A1 gene encodes one of the three alpha chains of type IX collagen, which is a key collagen component of hyaline cartilage. Our study aimed to evaluate the effect of COL9A1 gene polymorphisms on susceptibility to CTEV in the Han Chinese population. Methods: A total of 2205 unrelated subjects comprising 692 CTEV patients and 1513 healthy controls were recruited. Demographic and characteristic information was collected, including maternal smoking and maternal drinking. Genetic association analyses and gene-environment interaction analyses were conducted based on the genotypic data of 36 tag single nucleotide polymorphisms (SNPs). Results: Although there was no association between genotyped SNPs and CTEV, a gene-environment interaction signal between SNP rs6455357 and maternal drinking was identified. Furthermore, significant heterogeneity was identified for this interaction signal when stratified by maternal drinking. For subjects with never maternal drinking, the A allele of SNP rs6455357 was significantly associated with a decreased risk of CTEV. In contrast, the A allele was associated with an increased risk of CTEV in the "occasional" and "often" groups. Conclusions: Our results indicate a combined effect of genetics and environmental factors on the etiology of CTEV. This study increases our understanding of the etiology of CETV and provides useful information for genetic counseling for at-risk families for the development of prevention programs and improved management.
    • Contributed Indexing:
      Keywords: COL9A1 gene; case–control study; congenital talipes equinovarus; single nucleotide polymorphism
    • Accession Number:
      0 (COL9A1 protein, human)
      0 (Collagen Type IX)
    • Publication Date:
      Date Created: 20201229 Date Completed: 20210128 Latest Revision: 20221207
    • Publication Date:
      20240105
    • Accession Number:
      10.1089/gtmb.2020.0196
    • Accession Number:
      33372835