Th2 cell regulatory and effector molecules single nucleotide polymorphisms and periodontitis

J Leukoc Biol. 2020 Nov;108(5):1641-1654. doi: 10.1002/JLB.4MA0720-698RR. Epub 2020 Aug 3.


To investigate the association between T helper 2 (Th2) cell regulatory and effector molecules' genetic polymorphisms and periodontitis. Single nucleotide polymorphisms (SNPs) of 11 Th2 cell regulatory or effector molecules genes (CD28, CTLA4, IL4, IL5, IL6, IL9, IL10, IL13, IL4R, GATA3, STAT6, and rs1537415; total 130 SNPs) were studied in Chinese nonsmokers (163 periodontitis-free controls, 141 periodontitis patients) using Sequenom iPlex assays. SNPs potentially associated with periodontitis (adjusted allelic P < 0.1) in this cross-sectional study were further investigated via meta-analysis. Allele G of rs4553808 in promoter of CTLA4 was more frequently detected in periodontitis than controls (P < 0.005), but did not remain significant after age and gender adjustment. Haplotype (GTT) in a block of three CTLA4 SNPs (rs4553808, rs16840252, rs5742909) was significantly associated with periodontitis. Meta-analysis of SNPs identified indicated allele T of CTLA4 rs5742909 (3 studies; 461 control, 369 periodontitis) and allele G of IL6 rs1800796 (18 studies; 2760 control, 2442 periodontitis) were significantly associated with periodontitis (OR = 1.44 and OR = 1.30, respectively). Within limitations of this study, a haplotype of CTLA4 concerning Th2 cell regulation, may be associated with periodontitis in Chinese nonsmokers followed. Meta-analysis indicated rs5742909 of CTLA4 and rs1800796 of IL6 appeared significantly associated with periodontitis.

Keywords: CTLA-4 antigen; IL-6; Th2 cells; periodontitis; polymorphisms; single nucleotide.

Publication types

  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Alleles*
  • CTLA-4 Antigen* / genetics
  • CTLA-4 Antigen* / immunology
  • Female
  • Humans
  • Interleukin-6* / genetics
  • Interleukin-6* / immunology
  • Male
  • Meta-Analysis as Topic
  • Middle Aged
  • Periodontitis* / genetics
  • Periodontitis* / immunology
  • Periodontitis* / pathology
  • Polymorphism, Single Nucleotide*
  • Th2 Cells / immunology*
  • Th2 Cells / pathology


  • CTLA-4 Antigen
  • CTLA4 protein, human
  • IL6 protein, human
  • Interleukin-6