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Markers for hereditary angioedema and their application

A marker and genetic technology, applied in the field of medical testing, can solve the problems of easy misdiagnosis and mistreatment, low incidence of HAE, etc., and achieve the effect of short time consumption, high sensitivity and high accuracy

Active Publication Date: 2022-06-21
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Due to the low incidence of HAE, it may have similar clinical manifestations with other diseases, and it is easy to be misdiagnosed and mistreated clinically.

Method used

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  • Markers for hereditary angioedema and their application
  • Markers for hereditary angioedema and their application
  • Markers for hereditary angioedema and their application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0079] Example 1 Markers used for HAE diagnosis

[0080] In the hereditary angioedema study cohort shown in Table 3, 141 N-glycan characteristics (including 59 directly detected glycan structures and 82 calculated glycans) were compared between HAE and healthy controls based on quantitative analysis results. N-glycan-derived characteristics). Characteristics of N-sugar chains (directly detected sugar chain structure + derived sugar chain characteristics calculated from directly detected sugar chains) with statistically significant differences between HAE and healthy controls, median of sugar chain expression amount in each group Values, p-values, AUC, sensitivity and specificity are shown in Table 4. The results showed that the expression levels of larger sugar chains (four-antennary), fucosylated sugar chains, and bisected sugar chains were significantly reduced in HAE compared with healthy controls, while sialylated sugar chains (including α2, 3-linked and α2,6-linked sial...

Embodiment 2

[0086] Example 2 Markers for Differentiating Treated and Untreated HAE Patients

[0087] The characteristic glycan markers of the treated HAE patients in the study cohort shown in Table 3 were analyzed. The results showed that five of the 33 glycan signatures used to distinguish untreated HAEs from healthy controls, namely A4G, A4S, A4L, A4F(0)E, and A4GE, recovered to the levels of healthy controls after treatment. (treated HAE vs. untreated HAE, p=* or ** or ***; treated HAE vs. HC, p=ns). Therefore, these five glycan characteristics (A4G, A4S, A4L, A4F(0)E and A4GE) can be used as markers for disease course monitoring, assessment and prognosis.

Embodiment 3

[0088] Example 3 Markers used to distinguish HAE with and without laryngeal edema

[0089] In the hereditary angioedema study cohort shown in Table 3, 141 N-glycan characteristics (including 59 directly detected glycan structures and 82 calculated glycans) were compared between HAE and healthy controls based on quantitative analysis results. The N-glycan-derived characteristics of these glycan characteristics were analyzed for the correlation between the glycan characteristics and the occurrence of laryngeal edema in HAE. The glycan characteristics significantly associated with laryngeal edema in HAE, the median value of glycan expression in subgroups with laryngeal edema and those without laryngeal edema, the p value of the correlation analysis, and the AUC value obtained by ROC evaluation are shown in the table. 6 shown. The results showed that H4N4F1 had a significant negative correlation with the occurrence of laryngeal edema, while A2G had a significant positive correlat...

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Abstract

The invention relates to the technical field of medical detection, in particular to markers for hereditary angioedema and applications thereof. The present invention provides markers for hereditary angioedema including N-sugar chain markers H4N6F1E1 and / or CA4. The expression levels of the N-sugar chain markers provided by the present invention are significantly different in healthy people, patients with hereditary angioedema, and patients with hereditary angioedema who develop laryngeal edema, severe abdominal pain, and patients with different degrees of severity, and can be used for hereditary angioedema The diagnosis of edema and the prediction of laryngeal edema, severe abdominal pain and the severity of hereditary angioedema have the advantages of convenient detection, short time consumption, specificity, high sensitivity and high accuracy, and can be used in practice for genetic Diagnosis of acute angioedema, stratification of patients' clinical symptoms, guidance of prevention and treatment, prediction and prognosis evaluation.

Description

technical field [0001] The invention relates to the technical field of medical detection, in particular to markers used for diagnosis of hereditary angioedema, stratification of clinical symptoms of patients, guidance for prevention and treatment, prediction and evaluation, and applications thereof. Background technique [0002] Hereditary angioedema (HAE) is a rare autosomal dominant genetic disease characterized by recurrent subcutaneous and / or submucosal edema, with an incidence of 1 / 10000-1 / 50000. Edema is spontaneous or induced by certain factors (mood swings, menstruation, fever, trauma, etc.), and has the characteristics of episodic, localized, non-pitting, self-limited, and asymmetric. Common sites of edema include the face, limbs, digestive tract and upper respiratory tract mucosa. A typical HAE is caused by a mutation in the complement C1 esterase inhibitor (C1 inhibitor, C1-INH) gene that reduces the amount or function of C1-INH. Currently, in clinical practice,...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G01N27/62A61K45/00A61P9/14A61P7/10
CPCG01N27/62G01N33/6848G01N33/6893A61K45/00A61P9/14A61P7/10G01N2800/52
Inventor 支玉香张泽建
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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