The C/C-13910 and G/G-22018 genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease
The C/C-13910 and G/G-22018 genotypes for adult-type hypolactasia are not associated with inflammatory bowel disease
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DOI：
10.1080/00365520310000555a
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发表时间：
2003-01-01
影响因子：
1.9
通讯作者：
Schmidt, H
中科院分区：
文献类型：
--
作者：
Büning, C;Ockenga, J;Schmidt, H
背景：乳糖不耐受是由于乳糖酶根皮苷水解酶（LPH）活性不足所致。它常见于克罗恩病患者，但其机制仍有待阐明。两个DNA基因型，C/C-13910和G/G（-22018），位于LCT基因座的上游，LPH的基因编码，最近被确定为代表乳糖不耐症的遗传标记。我们利用这两种DNA基因型来研究它们在炎症性肠病中的作用。研究方法：我们调查了这两种DNA变异的患病率，使用特异性限制性内切酶消化试验在166例克罗恩病患者，在120例健康的一级亲属克罗恩病患者，在63例溃疡性结肠炎患者和187名健康人。结果如下：分析显示，在我们研究的德国健康个体队列中，成人型乳酸脱氢酶缺乏的2种基因型的频率为21.4%，高于先前基于氢（H-2）呼吸试验的报道（15%）。这可能表明基因分型的灵敏度更高，但必须在更大的队列中证实。C/C-13910和G/G（-22018）基因型在克罗恩病患者中的频率无显著性差异（C/C-13910：21.7%; G/G（-22018）：22.3%）（C/C-13910：21.7%; G/G（-22018）：20.8%），溃疡性结肠炎患者（C/C-13910：20.3%; G/G（-22018）：20.3%）和健康个体（C/C-13910：21.4%; G/G（-22018）：21.4%）。结论：成人型乳糖缺乏症的C/C-13910和G/G（-22018）基因型与克罗恩病和溃疡性结肠炎发病机制的易感性无关。
Background: Lactose intolerance with adult-onset is due to the inadequate enzymatic activity of lactase-phlorizin hydrolase (LPH). It is frequently seen in patients with Crohn disease, but the mechanism remains to be elucidated. Two DNA genotypes, C/C-13910 and G/G(-22018), located upstream from the LCT locus, the gene encoding for LPH, were recently identified as representing genetic markers for lactose intolerance. We utilized these two DNA genotypes to study their role in inflammatory bowel disease. Methods: We investigated the prevalence of these two DNA variants using specific restriction enzyme digest assays in 166 patients with Crohn disease, in 120 healthy first-degree relatives of Crohn disease patients, in 63 patients with ulcerative colitis and in 187 healthy individuals. Results: The analysis revealed a frequency of 21.4% of the 2 genotypes for adult-type hypolactasia in our studied German cohort of healthy individuals, which is higher than previously reported (15%) based on the hydrogen (H-2) breath test. This might indicate a higher sensitivity of genotyping, but it has to be confirmed in larger cohorts. No significant difference was detectable in the frequency of the C/C-13910 and G/G(-22018) genotypes in patients with Crohn disease (C/C-13910: 21.7%; G/G(-22018): 22.3%) compared to first-degree relatives (C/C-13910: 21.7%; G/G(-22018): 20.8%), patients with ulcerative colitis (C/C-13910: 20.3%; G/G(-22018): 20.3%) and healthy individuals (C/C-13910: 21.4%; G/G(-22018): 21.4%). Conclusion: The C/C-13910 and G/G(-22018) genotype of adult-type hypolactasia is not associated with susceptibility to the pathogenesis of Crohn disease and ulcerative colitis.