Comparison of Lactase Variant MCM6 -13910 C>T Testing and Self-report of Dairy Sensitivity in Patients With Irritable Bowel Syndrome.
Comparison of Lactase Variant MCM6 -13910 C>T Testing and Self-report of Dairy Sensitivity in Patients With Irritable Bowel Syndrome.
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DOI：
10.1097/mcg.0000000000001065
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发表时间：
2019-07
影响因子：
2.9
通讯作者：
Saito YA
中科院分区：
文献类型：
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作者：
Almazar AE;Chang JY;Larson JJ;Atkinson EJ;Locke GR;Talley NJ;Saito YA
评价IBS受试者中LCT-13910与乳制品敏感性（DS）和乳糖氢甲烷呼气试验（LHMBT）结果自我报告的一致性。肠易激综合征（IBS）是一种功能性胃肠道疾病，其症状包括腹痛、排便习惯和腹胀。乳糖吸收不良的成年患者可能会出现类似的症状。乳糖吸收不良患者具有乳糖酶非持续性（LNP）表型。最近的研究发现了两个与LNP相关的单核苷酸多态性：G/A-22018和C/T-13910。对538例IBS患者和317例对照（无IBS）中LNP的LCT-13910变体进行基因分型。受试者完成了关于胃肠道问题和饮食消费的问卷调查，并绘制了图表。IBS患者自我报告的DS（45%）高于对照组（9.8%，OR = 6.46，p<0.001）。C/C−13910基因型在IBS病例和对照组中相似，分别为81例（15.1%）和47例（14.8%）。在报告DS的受试者中，49例（18.0%）具有C/C基因型。基因型和自我报告的DS之间的总体一致性在IBS中为0.06，在对照中为0.07。有20例受试者的LHMBT结果; 3例阳性，17例阴性。在所有3例阳性LHMBT结果中均发现乳糖酶非持久性基因型;在17例乳糖酶持久性中，16例LHMBT阴性。C/C−13910基因型和LHMBT之间的一致性极好，κ统计量为0.83 [0.50-1.00]。在IBS患者中，自我报告的乳糖不耐症非常普遍，但对于潜在的C/C−13910基因型来说，这是一个很差的指标。LHMBT与C/C−13910基因型具有极好的一致性。
To evaluate agreement of LCT-13910 with self-report of dairy sensitivity (DS) and lactose hydrogen methane breath test (LHMBT) results in subjects with IBS. Irritable bowel syndrome (IBS) is a functional gastrointestinal disorder with symptoms including abdominal pain, variable bowel habits and bloating. Adult patients with lactose malabsorption may present with similar symptoms. Patients with lactose malabsorption have a lactase non-persistent (LNP) phenotype. Recent studies found two single nucleotide polymorphisms associated with LNP: G/A−22018 and C/T−13910. Genotyping the LCT-13910 variant of LNP in 538 IBS patients and 317 controls (without IBS). Subjects completed questionnaires pertaining to gastrointestinal problems and dietary consumption, with charts abstracted. Self-reported DS was higher in IBS (45%) than controls (9.8%, OR = 6.46, p<0.001). The C/C−13910 genotype was similar in IBS cases and controls, 81 (15.1%) and 47 (14.8%). Among subjects reporting DS, 49 (18.0%) had the C/C genotype. Overall agreement between genotype and self-reported DS was 0.06 in IBS and 0.07 in controls. There were 20 subjects with LHMBT results; three had positive results, 17 were negative. Lactase non-persistence genotypes were found in all three of positive LHMBT results; 16 had negative LHMBT among the 17 who were lactase persistent. Agreement between C/C−13910 genotype and LHMBT was excellent with κ-statistic of 0.83 [0.50–1.00]. In IBS patients, self-report of lactose intolerance are highly prevalent but are a poor indicator of underlying C/C−13910 genotype. LHMBT had excellent agreement with C/C−13910 genotype.