From Human Nutritional Sciences and the Richardson Centre for Functional Foods and Nutraceuticals (ASL, MAS, NY, and PE), the University of Manitoba Inflammatory Bowel Disease Clinical and Research Centre (CNB), and the Department of Internal Medicine (CNB and HE-G), University of Manitoba, Winnipeg, Canada.
Am J Clin Nutr. 2014 Jul;100(1):289-94. doi: 10.3945/ajcn.113.080549. Epub 2014 Apr 16.
SLC22A23 is an orphan gene in the SLC22 family of organic membrane transporters, and its single-nucleotide polymorphism rs17309827-T was recently nominally associated with intestinal inflammation in a genome-wide association study. Other polymorphisms in the SLC22A23 gene have been associated with diseases with an inflammatory component, and polymorphisms in related genes in the SLC22 family have been repeatedly associated with inflammatory bowel disease (IBD).
In a candidate-gene study using a well-phenotyped, highly monitored, Manitoban white cohort, we investigated whether variations in SLC22A23 were associated with intestinal inflammation.
Selected genetic variations were genotyped by using fluorescent-based assays or a polymerase chain reaction-restriction fragment length polymorphism analysis in 160 individuals with Crohn disease, 149 individuals with ulcerative colitis, and 142 healthy control subjects to determine genetic associations.
Homozygocity for single-nucleotide polymorphisms rs4959235-TT and rs950318-GG was associated with IBD, whereby 6% of patients (18 of 311 cases) carried these genotypes, but they were not seen in healthy controls.
Associations reported in this article add to the emerging evidence that SLC22A23 variants could modify IBD risk. However, the biology of the gene and impact of variations on the gene's functions need to be tested to validate a causative role.
SLC22A23 是有机膜转运体 SLC22 家族的孤儿基因，其单核苷酸多态性 rs17309827-T 最近在全基因组关联研究中被命名为与肠道炎症相关。SLC22A23 基因中的其他多态性与具有炎症成分的疾病相关，并且 SLC22 家族中相关基因的多态性与炎症性肠病 (IBD) 反复相关。
在一项使用表型良好、高度监测的马尼托巴白人群进行的候选基因研究中，我们研究了 SLC22A23 中的变异是否与肠道炎症相关。
通过荧光基础检测或聚合酶链反应-限制性片段长度多态性分析，对 160 名克罗恩病患者、149 名溃疡性结肠炎患者和 142 名健康对照个体中的选定遗传变异进行基因分型，以确定遗传关联。
单核苷酸多态性 rs4959235-TT 和 rs950318-GG 的纯合性与 IBD 相关，其中 6%的患者（311 例病例中的 18 例）携带这些基因型，但在健康对照组中未发现。
本文报道的关联增加了 SLC22A23 变体可能改变 IBD 风险的证据。然而，需要测试该基因的生物学和变异对基因功能的影响，以验证其因果作用。
