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Updated: Aug 15, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
The effects of NLRP3 and MAVS gene polymorphisms on the risk of asthma: A case-control study
Cai Xulong1, Zhou Li, Yin Tongjin
1Department of Pediatrics, Yancheng Third People's Hospital (The Sixth Affiliated Hospital of Nantong University), Yancheng, China.
Abstract:
Genetic factors are important risk factors for asthma. Nucleotide-binding oligomerization domain-like receptor containing pyrin domain 3 (NLRP3) is closely associated with asthma. Mitochondrial antiviral signaling protein (MAVS) mediates the recruitment of NLRP3 to the mitochondria and activation of the NLRP3 inflammasome. The purpose of this study was to analyze the effects of NLRP3 and MAVS polymorphisms on the risk of asthma and the interactions between them. Children with asthma (n = 127) and healthy children (n = 100) were recruited between August, 2020 and July, 2021. Multiplex polymerase chain reaction and sequencing was used to analyze genotypes of single nucleotide polymorphisms. The multifactor dimensionality reduction statistical method was used to detect and model epistasis of gene-gene interactions. There were significant differences in the distribution of MVAS rs6515831 and NLRP3 rs10925023 genotypes between the asthma and healthy groups. Compared with rs6515831 TT genotype, the results showed that rs6515831CT genotype increased the risk of asthma (odds ratio: 2.243, 95% CI: 1.221-4.122, P = .009). Compared with rs10925023 GG genotype, the results showed that the risk of asthma in the population with rs10925023 TT genotype was lower (odd ratio: 0.643, 95% CI: 0.423-0.979, P = .039). In the genotype of the NLRP3 rs12048215 locus, the IgE level of asthma patients with genotype AG was lower than that of patients with genotype AA. The dendrogram model showed the strongest interaction between rs7272495 and rs10925023, which was expressed in a synergistic manner. Haplotype analysis revealed that rs10925023T/rs7272495G and rs10925023T/rs3272495A were statistically different in distribution between the two groups. The MAVS rs6515831 and NLRP3 rs10925023 polymorphisms were associated with the risk of asthma in children. There may be interactions between NLRP3 and MAVS polymorphisms in the risk of asthma.
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