Interlaboratory evaluation of plasma N-glycan antennary fucosylation as a clinical biomarker for HNF1A-MODY using liquid chromatography methods.
Interlaboratory evaluation of plasma N-glycan antennary fucosylation as a clinical biomarker for HNF1A-MODY using liquid chromatography methods.
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使用液相色谱法对血浆n -聚糖天线聚焦作为HNF1A-MODY临床生物标志物的实验室间评估
DOI：
10.1007/s10719-021-09992-w
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发表时间：
2021-06
影响因子：
3
通讯作者：
Spencer DIR
中科院分区：
文献类型：
--
作者：
Demus D;Jansen BC;Gardner RA;Urbanowicz PA;Wu H;Štambuk T;Juszczak A;Medvidović EP;Juge N;Gornik O;Owen KR;Spencer DIR
血浆糖蛋白中的触角岩藻糖基化改变先前已被提出并测试为区分携带 HNF1A 基因功能突变的年轻成年型糖尿病 (MODY) 患者的生物标志物。在这里，我们开发了一种基于 LC 的新型工作流程，用于分析 320 例糖尿病患者的血浆 N-聚糖岩藻糖基化，这些患者的临床特征与 HNF1A-MODY 风险患者相匹配。在两个独立研究中心使用类似的基于 LC 的方法测量的岩藻糖基化水平相关联，以评估生物标志物的实验室间性能。实验室间研究显示，两个中心的 320 例病例测得的岩藻糖基化水平之间存在良好的相关性，单个性状 A3FG3S2 的相关系数 (r) 高达 0.88。改进的色谱分离允许鉴定六种单聚糖特征和衍生的天线岩藻糖基化特征，这些特征能够将携带致病性突变的个体与良性或无 HNF1A 突变病例区分开来，由高达 0.94 的曲线下面积 (AUC) 确定。 HNF1A-MODY 聚糖生物标志物出色的 (r = 0.88) 实验室间性能进一步支持了测量天线岩藻糖基化水平的临床相关诊断测试的开发。在线版本包含可在 10.1007/s10719-021-09992-w 获取的补充材料。
Antennary fucosylation alterations in plasma glycoproteins have been previously proposed and tested as a biomarker for differentiation of maturity onset diabetes of the young (MODY) patients carrying a functional mutation in the HNF1A gene. Here, we developed a novel LC-based workflow to analyze blood plasma N-glycan fucosylation in 320 diabetes cases with clinical features matching those at risk of HNF1A-MODY. Fucosylation levels measured in two independent research centers by using similar LC-based methods were correlated to evaluate the interlaboratory performance of the biomarker. The interlaboratory study showed good correlation between fucosylation levels measured for the 320 cases in the two centers with the correlation coefficient (r) of up to 0.88 for a single trait A3FG3S2. The improved chromatographic separation allowed the identification of six single glycan traits and a derived antennary fucosylation trait that were able to differentiate individuals carrying pathogenic mutations from benign or no HNF1A mutation cases, as determined by the area under the curve (AUC) of up to 0.94. The excellent (r = 0.88) interlaboratory performance of the glycan biomarker for HNF1A-MODY further supports the development of a clinically relevant diagnostic test measuring antennary fucosylation levels. The online version contains supplementary material available at 10.1007/s10719-021-09992-w.
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影响因子：
4.9
作者：
Lundstrom, Susanna L.;Hensvold, Aase H.;Catrina, Anca I.
通讯作者：
Catrina, Anca I.
影响因子：
4.3
作者：
Kailemia, Muchena J.;Park, Dayoung;Lebrilla, Carlito B.
通讯作者：
Lebrilla, Carlito B.
影响因子：
3.7
作者：
Joenvaara S;Saraswat M;Kuusela P;Saraswat S;Agarwal R;Kaartinen J;Järvinen A;Renkonen R
通讯作者：
Renkonen R
影响因子：
7.7
作者：
Byrne, MM;Sturis, J;Polonsky, KS
通讯作者：
Polonsky, KS
DOI：
10.1016/j.bbadis.2018.03.018
发表时间：
2018-06-01
影响因子：
6.2
作者：
Gudelj, Ivan;Salo, Perttu P.;Lauc, Gordan
通讯作者：
Lauc, Gordan