Department of Medicine II, Division of Gastroenterology, Rostock University Medical Center, Rostock 18057, Germany.
Institute for Biostatistics and Informatics in Medicine and Ageing Research, Rostock 18057, Germany.
World J Gastroenterol. 2020 May 14;26(18):2194-2202. doi: 10.3748/wjg.v26.i18.2194.
Crohn's disease (CD) is characterized by a multifactorial etiology and a significant impact of genetic traits. While mutations represent well established risk factors of CD, the role of other genes is incompletely understood.
To challenge the hypothesis that single nucleotide polymorphisms (SNPs) in the genes and , two members of the C-type lectin domain family of pattern recognition receptors, may be associated with CD.
SNPs in , and the known CD risk gene were studied using real time PCR-based SNP assays. Therefore, DNA samples from 175 patients and 157 healthy donors were employed. Genotyping data were correlated with clinical characteristics of the patients and the results of gene expression data analyses.
In accordance with previous studies, rs2066844 and rs2066847 in were found to be significantly associated with CD (allelic values = 0.0368 and 0.0474, respectively). Intriguingly, for genotype AA of rs1285933 in , a potential association with CD (recessive = 0.0523; odds ratio = 1.90) was observed. There were no associations between CD and SNPs rs2078178 and rs16910631 in . Variants of rs1285933 had no impact on gene expression. In contrast, genotype-dependent differences of expression in peripheral blood mononuclear cells were observed. There is no statistical interaction between the tested SNPs of and , suggesting of a novel pathway contributing to the disease.
Our data encourage enlarged follow-up studies to further address an association of SNP rs1285933 in with CD. The C-type lectin domain family member also deserves attention regarding a potential role in the pathophysiology of CD.
克罗恩病（CD）的发病机制具有多因素特征，且受遗传因素的显著影响。虽然突变是 CD 明确的风险因素，但其他基因的作用尚不完全清楚。
验证 C 型凝集素结构域家族模式识别受体成员 和 中的单核苷酸多态性（SNP）与 CD 相关的假设。
采用基于实时 PCR 的 SNP 检测方法，研究 和 中的 SNP 以及已知的 CD 风险基因 。因此，我们使用了 175 例患者和 157 例健康供体的 DNA 样本。将基因分型数据与患者的临床特征和基因表达数据分析的结果进行相关性分析。
与既往研究一致， 中的 rs2066844 和 rs2066847 与 CD 显著相关（等位基因 值分别为 0.0368 和 0.0474）。有趣的是， 在 rs1285933 的 AA 基因型与 CD 存在潜在关联（隐性 = 0.0523；比值比 = 1.90）。 在 rs2078178 和 rs16910631 中未观察到 CD 与 SNP 之间的关联。rs1285933 的变体对 基因表达没有影响。相反，在外周血单核细胞中观察到 表达的基因型依赖性差异。提示可能存在一个新的通路与疾病相关。
我们的数据鼓励进行更大规模的随访研究，以进一步确定 中的 SNP rs1285933 与 CD 的关联。C 型凝集素结构域家族成员也值得关注，因为其在 CD 病理生理学中可能具有潜在作用。
