Biomarker for systemic lupus erythematosus combined pulmonary arterial hypertension and application thereof

A technique for pulmonary arterial hypertension and lupus erythematosus, which is applied in biological testing, biochemical equipment and methods, microbial measurement/testing, etc., and can solve problems such as the lack of genetic markers

Pending Publication Date: 2022-08-09
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

[0004] At present, there is still a lack of reliable genetic markers for early identification and prognosis assessment in SLE-PAH

Method used

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  • Biomarker for systemic lupus erythematosus combined pulmonary arterial hypertension and application thereof
  • Biomarker for systemic lupus erythematosus combined pulmonary arterial hypertension and application thereof
  • Biomarker for systemic lupus erythematosus combined pulmonary arterial hypertension and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0037] Example 1 Genomics study Screening TRAF5 as SLE-PAH susceptibility gene

[0038] The team has collected 150 patients with SLE-PAH confirmed by right heart catheterization (RHC) based on the CSTAR platform, matched 1000 healthy controls, and analyzed them by whole exome sequencing (WES) technology. High-throughput sequencing of DNA sequences of probe hybridization-enriched exon regions, through data quality control and filtering, mutation site deleterious filtering and gene load correlation analysis, to find genetic mutations related to protein function variation.

[0039] Gene-based association analysis was used to explore the relationship between low frequency deleterious mutations (MAFfigure 1 ).

Embodiment 2

[0040] Example 2 Transcriptome verification of abnormal expression of TRAF5 in SLE-PAH

[0041] At the transcriptional level, the team collected 10 peripheral blood mononuclear cells (PBMCs) from healthy controls (NH), SLE-PAH, and SLE-nPAH patients. The detection results showed that the transcription level of TRAF5 in PBMC of SLE-PAH patients was significantly reduced, indicating that peripheral blood TRAF5 can be used as a clinical diagnostic marker for SLE-PAH.

[0042] The specific implementation steps are as follows:

[0043] 1. Take 9ml of peripheral blood from enrolled patients and healthy controls; plasma collection: collect supernatant plasma by centrifugation at 500g for 10min, and dispense into 1.5ml centrifuge tubes (1ml / tube), at least 5 tubes. Store at -80°C; PBMC separation: add equal volume of PBS to the lower sediment to dilute, add an equal volume of separation solution to a 50ml centrifuge tube, and spread the diluted blood sample on top of the sepa...

Embodiment 3

[0049] Example 3 In vitro test to verify the effect of TRAF5 deletion on the function of human pulmonary artery endothelial cells

[0050] TRAF5 is an important adaptor molecule upstream of the TNF-R superfamily and Toll-like / IL-1 receptor (TIR) ​​superfamily signaling pathways; it is related to the process of cell proliferation, differentiation and apoptosis. It plays an important role in innate and acquired immunity. Studies have shown that abnormal TRAF5 is related to inflammatory diseases, autoimmune diseases, cardiovascular and cerebrovascular diseases, including Behçet's syndrome, ventricular hypertrophy, ischemic cerebral infarction, atherosclerosis, etc., but there is no relationship between TRAF5 and PAH. sex research. In our study, it was found that TRAF5 is transcriptionally expressed in PAECs, and knockdown of TRAF5 can promote TNF-α-induced death of PAECs and enhance their migration ability. It is inferred that TRAF5 deletion may mediate inflammatory response...

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PUM

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Abstract

The invention belongs to the field of biological detection, and particularly relates to a biomarker for systemic lupus erythematosus and pulmonary arterial hypertension and application of the biomarker. The specific susceptibility gene TRAF5 of the SLE-PAH is found for the first time on the basis of a large sample SLE-PAH genomics association analysis technology, it is preliminarily proved that the transcriptional level of the TRAF5 in PBMC of an SLE-PAH patient is remarkably reduced, and on this basis, it is proposed for the first time that deletion of the TRAF5 plays a key role in the pathogenesis of the SLE-PAH. The discovery discloses an SLE-PAH biomarker for the onset risk of the SLE-PAH, and the SLE-PAH biomarker comprises TRAF5 gene mutation or TRAF5 expression abnormality.

Description

technical field [0001] The invention belongs to the field of biological detection, and particularly relates to a biological marker of systemic lupus erythematosus complicated with pulmonary hypertension and its application. Background technique [0002] Pulmonary arterial hypertension (PAH) is a rare but serious prognostic complication of systemic lupus erythematosus (SLE). The results of a multi-center cohort study (Chinese SLETreatment and Research Group, CSTAR) show that the 5-year mortality rate of SLE-PAH patients exceeds 20%, which has become one of the main causes of death in current SLE patients, seriously jeopardizing the prognosis and quality of life of SLE patients. Society and family bring a heavy burden. [0003] Previous clinical genetic studies have shown that about 80% of familial PAH patients can detect Bone Morphogenetic Protein Receptor Type 2 (BMPR2) gene mutation, which leads to abnormal expression of BMP / TGF-β pathway and promotes Pulmonary artery end...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): G01N33/68C12Q1/6883
CPCG01N33/6893C12Q1/6883G01N2333/4706G01N2800/12G01N2800/104C12Q2600/158
Inventor 曾小峰李梦涛田庄王迁赵久良钱君岩邓小月
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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