Diagnosis of lactose intolerance: concordance between 13910-C/T genotype and lactose tolerance test in a Danish population.

IF 1.3 4区 医学 Q4 MEDICINE, RESEARCH & EXPERIMENTAL Scandinavian Journal of Clinical & Laboratory Investigation Pub Date : 2024-10-01 Epub Date: 2024-10-19 DOI:10.1080/00365513.2024.2417273
Sumaya Durrani Khan, Henrik L Jørgensen, Nikki H Mitchell
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Abstract

The association between the MCM6-13910-C/T polymorphism and lactose intolerance in individuals of European descent is well known. However, the notion that having a single versus a double allelic mutation might influence one's phenotype has been hypothesized. This study investigated whether patients with the three genotypes C/C, C/T, T/T differed in response to a lactose tolerance test (LTT) in a Danish setting. Anonymized data on 603 individuals with results for both genetic test and LTT were investigated. Mean delta glucose values were plotted for the time points of the LTT (0, 15, 30, 45 and 60 min) for the C/C, C/T and T/T genotype, respectively. Further, the agreement between the three genotypes and the diagnostic interpretation of the LTT were examined using a cut-off of > 1.4 mmol/L rise in glucose. In subjects with the C/C genotype, mean glucose delta levels were markedly lower compared to both the C/T and T/T genotypes at all time points. Overall, a difference between mean glucose delta values among the C/T and T/T genotype could not be shown. Using a LTT cut-off of > 1.4 mmol/L, the proportions of lactose intolerant LTT results for each genotype were as follows: 58% among C/C, 5% among C/T, and 7% among T/T. In a Danish healthcare setting, the C/C genotype was on average associated with a smaller glucose response during a LTT when compared to the C/T and T/T genotypes. A marked difference in the LTT response among the C/T and T/T genotype was not observed.

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乳糖不耐症的诊断:丹麦人群中 13910-C/T 基因型与乳糖耐受性测试的一致性。
众所周知,欧洲后裔的 MCM6-13910-C/T 多态性与乳糖不耐症之间存在关联。然而,单等位基因突变和双等位基因突变可能会影响一个人的表型,这一观点一直被假设。本研究调查了在丹麦环境中,C/C、C/T、T/T 三种基因型的患者对乳糖耐受性测试(LTT)的反应是否存在差异。该研究调查了 603 名基因测试和乳糖耐受性测试均有结果的患者的匿名数据。分别绘制了 C/C、C/T 和 T/T 基因型在 LTT 时间点(0、15、30、45 和 60 分钟)的平均 delta 葡萄糖值。此外,还以血糖上升> 1.4 mmol/L为临界值,检查了三种基因型与 LTT 诊断解释之间的一致性。与 C/T 和 T/T 基因型相比,C/C 基因型受试者在所有时间点的平均葡萄糖δ水平都明显较低。总体而言,C/T 基因型和 T/T 基因型的平均葡萄糖δ值之间没有差异。以 > 1.4 mmol/L 为 LTT 临界值,各基因型的乳糖不耐受 LTT 结果比例如下:C/C型占58%,C/T型占5%,T/T型占7%。在丹麦的医疗机构中,与 C/T 和 T/T 基因型相比,C/C 基因型在 LTT 中的血糖反应平均较小。C/T 和 T/T 基因型之间的 LTT 反应没有明显差异。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
3.50
自引率
4.80%
发文量
85
审稿时长
4-8 weeks
期刊介绍: The Scandinavian Journal of Clinical and Laboratory Investigation is an international scientific journal covering clinically oriented biochemical and physiological research. Since the launch of the journal in 1949, it has been a forum for international laboratory medicine, closely related to, and edited by, The Scandinavian Society for Clinical Chemistry. The journal contains peer-reviewed articles, editorials, invited reviews, and short technical notes, as well as several supplements each year. Supplements consist of monographs, and symposium and congress reports covering subjects within clinical chemistry and clinical physiology.
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