Composition for estimating risk of onset of systemic lupus erythematosus, comprising primer for detecting dna copy number variation in 1q25.1(RABGAP1L) location, 6P21.32 (c4) location and 10.q21.3 location

A technology for copy number variation and lupus erythematosus, which is applied in the direction of recombinant DNA technology, DNA/RNA fragments, genetic material components, etc., to prevent the deterioration of the state and reduce the effect of analysis errors

Inactive Publication Date: 2015-06-10
ザカソリックユニバーシティーオブコリアインダストリーアカデミックコーポレーションファウンデーション
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

As an example, CNVs in C4 and FCGR3B increase the risk of SLE in Caucasians, but there are few studies on this in other ethnic groups.

Method used

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  • Composition for estimating risk of onset of systemic lupus erythematosus, comprising primer for detecting dna copy number variation in 1q25.1(RABGAP1L) location, 6P21.32 (c4) location and 10.q21.3 location
  • Composition for estimating risk of onset of systemic lupus erythematosus, comprising primer for detecting dna copy number variation in 1q25.1(RABGAP1L) location, 6P21.32 (c4) location and 10.q21.3 location
  • Composition for estimating risk of onset of systemic lupus erythematosus, comprising primer for detecting dna copy number variation in 1q25.1(RABGAP1L) location, 6P21.32 (c4) location and 10.q21.3 location

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0042] Embodiment 1. Research object and statistical analysis method

[0043] 1-1. Research object

[0044] All subjects were composed of Korean ethnicity.

[0045] For CNV-GWAS analysis, 400 SLE patients (all female, mean age 31±10.0 years) were recruited from the BAE systemic lupus erythematosus population of the Department of Rheumatic Diseases, Hanyang University Hospital (Seoul, Republic of Korea). These patients were all patients diagnosed as suffering from SLE through the 1997 American College of Rheumatology classification criteria (American College of Rheumatology classification criteria). Meanwhile, 200 non-SLE patients were recruited from the same hospital as a control group (all female, mean age 33±9.2 years).

[0046] For independent copies, 564 patients and 511 controls (1075 in total) were recruited from the same hospital.

[0047] This study was conducted after approval by the institutional review board (CUMC11U199).

[0048] 1-2. Statistical analysis...

Embodiment 2

[0050] Example 2. Whole genome SNP genotype (genotype) analysis

[0051] The human 610s Quad-Bead Chip platform (including 620,901 SNP markers) produced by Illumina was used to perform genotype analysis on the whole genome SNP. For each known CNV, the average number of probes was 37.7. Approximately 750 ng of genomic DNA per sample was used for genotype analysis. The samples used by the inventors showed an average SNP call rate of 99.89±0.16%. All steps were performed in the same environment at the same time in order to minimize plate or batch effects.

Embodiment 3

[0052] Example 3. Quality verification and copy number variation (CNV) exploration

[0053] The experimental data including signal intensity (log R ratio: LRR) and allele intensity (B allele frequency) were obtained using GenomeStudio software produced by Illumina.

[0054] 3-1. Quality Verification

[0055] First, a process of verifying the quality of said data was passed. In the following cases, the relevant individuals were excluded from the experimental results: when the successful SNP sampling rate (SNP interpretation rate) was less than 90% or the LRR standard deviation exceeded 0.24; when the B zygote frequency drift (drift) exceeded 0.01; When the wave factor (wave factor) is less than 0.05.

[0056] 3-2. CNV sampling

[0057] The present inventors sampled CNV based on signal intensity (log R ratio: LRR) and allele intensity (B allele frequency) data and using the PennCNV algorithm as the basic setting state.

[0058] The PennCNV algorithm uses HMM, although ...

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Abstract

The present invention relates to a composition for a systemic lupus erythematosus risk prediction. In detail, in case where copy number variants of 1q25.1, C4 and 10q21.3 loci occur, the variants are regarded as high-risk groups for a systemic lupus erythematosus through the composition. The composition of the present invention enables prediction for the risk of systemic lupus erythematosus as the copy number variants of the three loci have a synergy effect for a development of systemic lupus erythematosus. Furthermore, the present invention is a test-friendly method which reduces analytical errors which may be created due to a new equipment purchased or technological limitations as a PCR generally implemented in a inspection room of majority of hospitals is used. In addition, the present invention is able to apply a non-invasive method to a person to be tested. Ultimately, the present invention predicts the risk of systemic lupus erythematosus which will essentially contribute to delaying development of the disease or to preventing an aggravation of state.

Description

technical field [0001] The invention relates to a composition for predicting the onset risk of systemic lupus erythematosus. Specifically, it relates to a composition that exhibits the characteristics of a high-risk group of systemic lupus erythematosus when DNA copy number variation occurs in the 1q25.1 (RABGAP1L) region, 6p21.32 (C4) region and 10q21.3 position. Background technique [0002] Systemic lupus erythematosus (SLE), as a chronic autoimmune disease that can affect multiple organs at the same time, mainly affects young women of childbearing age. In SLE patients, the abnormal immune response leads to the production of pathological autoantibodies, and the immune complexes accumulate on various organs to induce inflammation and organ damage. Although the pathogenesis of SLE has not yet been clarified, it is inferred that genetic factors are an important reason from the two points that monozygotic twins have a higher risk of developing the disease at the same time th...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
CPCA61K48/00C12Q1/6827C12Q1/6851
Inventor 郑演濬郑承贤
Owner ザカソリックユニバーシティーオブコリアインダストリーアカデミックコーポレーションファウンデーション
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