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SNP (Single Nucleotide Polymorphism) marker for identifying high-risk groups with nasopharyngeal carcinoma, and kit and application thereof

A marker and nasopharyngeal carcinoma technology, applied in the fields of genetic engineering and oncology, to improve early diagnosis rate, reduce mortality rate, and improve positive predictive value

Active Publication Date: 2021-06-18
SUN YAT SEN UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] The technical problem to be solved by the present invention is to overcome the defects and deficiencies of the existing nasopharyngeal carcinoma screening methods, and provide a SNP for identifying high-risk groups of nasopharyngeal carcinoma Markers and their kits and applications

Method used

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  • SNP (Single Nucleotide Polymorphism) marker for identifying high-risk groups with nasopharyngeal carcinoma, and kit and application thereof
  • SNP (Single Nucleotide Polymorphism) marker for identifying high-risk groups with nasopharyngeal carcinoma, and kit and application thereof
  • SNP (Single Nucleotide Polymorphism) marker for identifying high-risk groups with nasopharyngeal carcinoma, and kit and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0057] Example 1 Genome-wide association analysis to determine new genetic susceptibility loci for nasopharyngeal carcinoma

[0058] In this example, the genome-wide association study and analysis of the population in the high-incidence area of ​​nasopharyngeal carcinoma was carried out, and the SNP sites significantly related to the risk of nasopharyngeal carcinoma were initially screened out, and further external verification was carried out in an independent population, and finally the SNP sites associated with nasopharyngeal carcinoma were identified. SNP sites associated with risk of disease (P-8 ). The specific experimental method is as follows:

[0059] 1. Establish a unified standard specimen bank and database

[0060] For 6,828 nasopharyngeal cancer patients and 10,473 healthy controls, systematically collect complete demographic data and clinical data, collect blood, saliva or oropharyngeal swab samples that meet the standards according to standard operating procedu...

Embodiment 2

[0075] Example 2 Establishment of polygenic genetic risk score model and detection kit for nasopharyngeal carcinoma

[0076] This example combines the 8 new SNPs (rs1867277, rs226241, rs3131875, rs1611163, rs9357092, rs2596506, rs2844484, rs9268644) obtained in Example 1, and other 6 SNPs (rs2106123, rs31489, rs259650) associated with the pathogenesis of nasopharyngeal carcinoma , rs2251830, rs6475604, rs9507124), through statistical analysis of data, a polygenic genetic risk score model for nasopharyngeal carcinoma and a detection kit were established. The specific experimental methods are as follows:

[0077] 1. Establishment and validation of a polygenic genetic risk score model for nasopharyngeal carcinoma

[0078] According to the GWAS study, we not only found 8 new SNPs associated with the risk of nasopharyngeal carcinoma, but also verified 6 SNPs associated with the incidence of nasopharyngeal carcinoma. In order to further study the effect of the comprehensive index c...

Embodiment 3

[0136] Example 3 High-risk individuals for nasopharyngeal carcinoma can be effectively identified based on the polygenic genetic risk score for nasopharyngeal carcinoma

[0137] Using the polygenic genetic risk score model and the kit constructed in Example 2, we tested the polygenic risk score for the population.

[0138] The distribution of polygenic risk scores can be obtained according to the scores of polygenic inheritance scores, see Table 2 for details.

[0139] Table 2 Score distribution of polygenic risk score

[0140]

[0141]

[0142] The dose-effect relationship between polygenic risk score and nasopharyngeal carcinoma risk figure 1 As shown, PRS can effectively identify high-risk groups of nasopharyngeal carcinoma, that is, with the increase of PRS, the risk of developing nasopharyngeal carcinoma gradually increases, and there is a significant dose-effect relationship. Such as figure 1 As shown in (A) in the figure, in the establishment population of the ...

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Abstract

The invention discloses an SNP (Single Nucleotide Polymorphism) marker for identifying high-risk groups with nasopharyngeal carcinoma, and a kit and application thereof. The marker is any one or more of rs2106123, rs31489, rs3131875, rs1611163, rs9357092, rs9261506, rs2251830, rs2596506, rs2844484, rs9268644, rs6475604, rs1867277, rs9507124 or rs226241. The kit and a risk scoring model constructed by using the marker can improve the positive predicted value of EBV antibody screening, effectively identify and gather high-risk groups with nasopharyngeal carcinoma, and guide different risk groups to formulate individualized screening starting age, so that individualized accurate screening is realized, the screening groups are shunted to a certain extent, the nasopharyngeal carcinoma screening efficiency is improved, and risk early warning is carried out on people who do not suffer from nasopharyngeal carcinoma in advance.

Description

technical field [0001] The invention belongs to the technical fields of genetic engineering and tumor medicine. More specifically, it relates to a SNP marker for identifying high-risk groups of nasopharyngeal carcinoma, a kit and application thereof. Background technique [0002] Nasopharyngeal carcinoma (Nasopharyngeal Carcinoma) is a malignant tumor originating from the epithelium of the nasopharynx, mostly in the top and side walls of the nasopharyngeal cavity. Nasopharyngeal carcinoma has extremely significant regional distribution differences. Its overall incidence rate in the world is extremely low, and the age-standardized incidence rate is about 0.4 / 100,000. However, it is extremely high in South China, with an incidence rate as high as 20-50 / 100,000 100,000. According to estimates by the International Agency for Research on Cancer (IARC), there were about 129,000 new cases of nasopharyngeal carcinoma in the world in 2018, of which 60,600 were new cases in my count...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11G16B20/20G16H50/30
CPCC12Q1/6886G16B20/20G16H50/30C12Q2600/156Y02A50/30
Inventor 贾卫华何永巧王曈旻曾益新
Owner SUN YAT SEN UNIV
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