Genetic association between the NLRP3 gene and acne vulgaris in a Chinese population

Clin Exp Dermatol. 2019 Mar;44(2):184-189. doi: 10.1111/ced.13657. Epub 2018 Jun 11.


Background: Acne vulgaris is a common chronic skin disease. Inflammation is an important pathogenetic mechanism of acne, and NLRP3 polymorphisms have been reported to be involved in the mediation and occurrence of the inflammation. However, only a few studies on NLRP3 and acne have been reported, and the mechanism remains unclear.

Aim: To investigate two SNPs in the NLRP3 gene in patients with acne vulgaris (AV) and healthy controls (HCs) in a Chinese population.

Methods: A case-control study was performed with 428 patients with AV and 384 (HCs). The SNPs rs10754558 and rs4612666 of the NLRP3 gene were genotyped using PCR with sequence-specific primers. A dual luciferase reporter assay was performed to determine whether the SNP rs10754558 might be responsible for the altered NLRP3 gene expression in AV by disrupting the interaction between micro-RNA (miR)-4273 and NLRP3 mRNA. Additionally, the mRNA level of NLRP3 was measured by PCR in the two groups.

Results: The frequencies of the G allele of rs10754558 were 0.54 in patients and 0.49 in HCs (P < 0.05). No significant difference was observed for SNP rs4612666. Dual luciferase reporter assay revealed that luciferase activity was downregulated by about 40% when the G allele of rs10754558 coexisted with miRNA-4273, indicating that the G allele might interfere with miR-4273 function and alter NLRP3 expression. The level of NLRP3 mRNA in patients with AV was significantly higher than that in HCs.

Conclusions: Our study suggests that the NLRP3 SNP rs10754558 is associated with the incidence of AV. The G allele might be a genetic risk factor for AV in the Chinese population.

MeSH terms

  • Acne Vulgaris / genetics*
  • Adult
  • Asian People / genetics
  • Case-Control Studies
  • China
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Male
  • NLR Family, Pyrin Domain-Containing 3 Protein / genetics*
  • NLR Family, Pyrin Domain-Containing 3 Protein / physiology
  • Polymorphism, Single Nucleotide / genetics
  • Young Adult


  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human