NLRP3 gene is associated with ulcerative colitis (UC), but not Crohn's disease (CD), in Chinese Han population

This study aimed to investigate whether NLRP3 is associated with IBD in Chinese Han population.

Three SNPs were genotyped using polymerase chain reaction with sequence-specific primers in 288 patients [232 Crohn's disease (CD) patients, 56 ulcerative colitis (UC) patients] and 274 controls.

In IBD group, the results showed no significant association. When subdivided to CD and UC, it showed in CD subgroup, there was no significant association. However, in UC subgroup, rs10754558 (P allele=0.015272, P genotype=0.029776, OR [95% CI]=0.604190[0.401200-0.909886]) and rs10925019 (P allele=0.013042, P genotype=0.037045, OR [95% CI]=2.022613[1.149854-3.557812]) have significant associations with UC. The G and T alleles were risk factors of the susceptibility of UC, the GG and TT genotypes may increase risk of this disease. Rs4925648 has no association with UC. The haplotypes analysis results showed as follow: for rs4925648-rs10925019, CC and TT are risk factors for UC (for CC, χ2=3.605, P=0.057613, OR [95% CI]=1.645 [0.980-2.761], for TT, χ2=5.522, P=0.018804, OR [95% CI]=0.426[0.205-0.884]), and for rs10754558-rs10925019, CT and GC haplotypes are risk factors for UC (for CT, χ2=3.545, P=0.059739, OR [95% CI]=0.571[0.317-1.029], for GC, χ2=9.359, P=0.002228, OR [95% CI]=1.904 [1.255-2.887]).

We first demonstrated that rs10754558 and rs10925019 are significantly associated with the susceptibility of UC, but not CD in Chinese Han population, suggesting that NLRP3 may play an important role in the pathogenesis of UC.