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Susceptibility loci of rheumatoid arthritis and application of susceptibility loci

A site and mutation site technology, applied in the field of medical diagnosis, can solve the problems of easy delay in treatment, inability to diagnose in time, and easy misdiagnosis, etc., and achieve the effects of easy acquisition, improved accuracy, rapid diagnosis and prediction

Pending Publication Date: 2019-11-15
SHENZHEN HUADA GENE INST +1
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AI Technical Summary

Problems solved by technology

However, these methods are prone to misdiagnosis, resulting in inability to diagnose in time and delaying the best time for treatment.
In addition, although the detection of anti-citrullinated peptide antibodies can improve the diagnostic accuracy, the cost is high

Method used

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  • Susceptibility loci of rheumatoid arthritis and application of susceptibility loci
  • Susceptibility loci of rheumatoid arthritis and application of susceptibility loci
  • Susceptibility loci of rheumatoid arthritis and application of susceptibility loci

Examples

Experimental program
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Effect test

Embodiment 1

[0064] In this example, two SNP sites related to rheumatoid arthritis were found creatively. Then for these two SNP loci, combined with genetic risk score and smoking status, referring to the existing literature, a risk model of rheumatoid arthritis was constructed, and the model was corrected by gender and age information, and the risk model of rheumatoid arthritis was corrected. predict the risk of inflammation. The prediction results showed that the accurate prediction of rheumatoid arthritis could be achieved by using any one of these two sites. Including the following steps:

[0065] (1) Referring to the literature Cao, H. et al. An integrated tool to study MHC region: accurate SNV detection and HLA genes typing in human MHC region using targeted high-throughput sequencing. PLoS One 8, e69388 (2013), using the MHC target region The method of capture sequencing, 370 cases of anti-citrullinated protein antibody (anti-citrullinated protein antibody, ACPA) positive RA sampl...

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Abstract

The invention relates to the field of medical diagnosis, in particular to susceptibility loci of rheumatoid arthritis and application of the susceptibility loci. The discovered susceptibility loci ofrheumatoid arthritis are selected from one or more of A obtained through mutation of C located at the 32609965 position on the chromosome 6, and / or T obtained through mutation of C located at the 32551894 position on the chromosome 6. By utilizing the discovered SNP loci, rheumatoid arthritis can be quickly predicted, when symptoms of rheumatoid arthritis are not expressed, or a baby is just born,the disease risk can be predicted, and the accurate and efficient purpose is achieved.

Description

technical field [0001] The invention relates to the field of medical diagnosis, in particular to a rheumatoid arthritis susceptibility site and its application. Background technique [0002] Rheumatoid arthritis (Rheumatoid Arthritis, RA) is a chronic, systemic immune disease that mainly affects peripheral joints. Characterized by aggressive and aggressive inflammation. If it is not treated in time, the patient is likely to experience joint deformity, and in severe cases, it may even lead to loss of joint function, which seriously affects the daily life of the patient. At present, the clinical diagnosis of rheumatoid arthritis is mainly based on the patient's main manifestations, characteristics, X-ray examination results, rheumatoid factor and other indicators. However, these methods are prone to misdiagnosis, resulting in inability to diagnose in time and delaying the best time for treatment. In addition, although the detection of anti-citrullinated peptide antibodies c...

Claims

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Application Information

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IPC IPC(8): G16H50/20
CPCG16H50/20
Inventor 李小苇郭健萍张涛栗占国贾慧珏
Owner SHENZHEN HUADA GENE INST
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