Genetic variations within the regulatory region of the gene encoding NOD-like receptor pyrin domain containing 3 (NLRP3) have been associated with Crohn’s Disease (CD). NLRP3 is part of the NLRP3-inflammasome that mediates the maturation of IL-1β and IL-18. Carrying the major allele of the single nucleotide polymorphisms (SNPs) rs10733113, rs4353135 and rs55646866 is associated with an increased risk for CD. We here studied the impact of these polymorphisms on clinical characteristics in patients of the Swiss IBD Cohort Study (SIBDCS). We included 981 Crohn’s disease (CD) patients and 690 ulcerative colitis (UC) patients of the SIBDCS. We analyzed whether three CD-associated NLRP3 polymorphisms have an impact on the clinical disease course in these patients. In CD patients presence of the major allele (G) of rs10733113 was associated with less surgeries and lower maximal CDAI and a similar trend was observed for rs55646866 and rs4353135. Presence of the major allele of all three SNPs was negatively correlated to maximal CDAI. In UC patients homozygous genotype for the major allele (CC) for rs55646866 was associated with a higher age at diagnosis and a higher MTWAI index. Homozygous genotype for the major allele of all three polymorphisms was associated with a higher number of ambulatory visits and longer hospital stays. In CD patients presence of the major allele of all three polymorphisms was associated with markers of a less severe disease course, while in UC the homozygous genotype for all major alleles suggested a more severe disease activity.

中文翻译：

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瑞士炎症性肠病患者 NOD 样受体 pyrin 结构域基因座内多态性的基因型-表型关联 3

编码含有 3 (NLRP3) 的 NOD 样受体 pyrin 结构域的基因调控区内的遗传变异与克罗恩病 (CD) 相关。NLRP3 是介导 IL-1β 和 IL-18 成熟的 NLRP3 炎性体的一部分。携带单核苷酸多态性 (SNP) rs10733113、rs4353135 和 rs55646866 的主要等位基因与 CD 风险增加有关。我们在这里研究了这些多态性对瑞士 IBD 队列研究 (SIBDCS) 患者临床特征的影响。我们纳入了 SIBDCS 的 981 名克罗恩病 (CD) 患者和 690 名溃疡性结肠炎 (UC) 患者。我们分析了三种与 CD 相关的 NLRP3 多态性是否对这些患者的临床病程有影响。在 CD 患者中，rs10733113 的主要等位基因 (G) 的存在与较少的手术和较低的最大 CDAI 相关，并且在 rs55646866 和 rs4353135 中观察到类似的趋势。所有三个 SNP 的主要等位基因的存在与最大 CDAI 呈负相关。在 UC 患者中，rs55646866 的主要等位基因 (CC) 的纯合基因型与较高的诊断年龄和较高的 MTWAI 指数相关。所有三种多态性的主要等位基因的纯合基因型与更多的门诊就诊和更长的住院时间相关。在 CD 患者中，所有三个多态性的主要等位基因的存在与不太严重的疾病过程的标志物相关，而在 UC 中，所有主要等位基因的纯合基因型表明疾病活动更严重。