Purpose: The purpose of this study was to clarify the association between the NLRC4  gene and the susceptibility and clinical characteristics of type 1 diabetes (T1D) in a Chinese Han population.
Patients and Methods: A case-control study was performed in a Chinese Han population including 510 classical T1D patients and 531 healthy controls. rs212704 and rs385076 of the NLRC4  gene were genotyped by MassARRAY. The frequency distributions of alleles and genotypes of polymorphisms in the NLRC4  gene were compared by logistic regression and the chi-square test. The relationships between the polymorphisms of the NLRC4  gene and various clinical characteristics were analyzed by Kruskal–Wallis one-way ANOVA. The statistical power was calculated by Quanto software.
Results: 1) rs385076 of the NLRC4  gene was significantly correlated with the onset age of T1D patients and the positive rate of GADA. The relationship between rs212704 and 2-h postprandial C-peptide was statistically significant. 2) There was no significant difference in the frequency distributions of the genotypes and alleles of rs212704 and rs385076 between T1D patients and controls. 3) rs212704 and rs385076 were not correlated with T1D susceptibility under different genetic models.
Conclusion: rs212704 was associated with 2-h postprandial C-peptide, while rs385076 of the NLRC4  gene was associated with the onset age and positive rate of GADA in patients with T1D.
Keywords: type 1 diabetes, inflammasome, single nucleotide polymorphism