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Coronary heart disease susceptibility substantially-associated single nucleotide polymorphism (SNP) sites of susceptible region chr5p15, and applications thereof

A single nucleotide polymorphism and polymorphic site technology, applied in the determination/testing of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc., can solve the lack of identification methods, little knowledge of the exact genetic molecular mechanism, etc. problem, to achieve the effect of reducing the incidence of

Active Publication Date: 2012-10-24
FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

From basic to clinical, people have done a lot of research on this, and accumulated a lot of knowledge on the risk factors of coronary heart disease and the pathophysiology of coronary heart disease, but the exact genetic molecular mechanism of coronary heart disease and myocardial infarction is not known Very few, there has been a lack of comprehensive, systematic and effective identification methods for how to identify genetic susceptibility genes and the genetic susceptibility of subjects to coronary heart disease

Method used

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  • Coronary heart disease susceptibility substantially-associated single nucleotide polymorphism (SNP) sites of susceptible region chr5p15, and applications thereof
  • Coronary heart disease susceptibility substantially-associated single nucleotide polymorphism (SNP) sites of susceptible region chr5p15, and applications thereof
  • Coronary heart disease susceptibility substantially-associated single nucleotide polymorphism (SNP) sites of susceptible region chr5p15, and applications thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0021] Example 1 Determination of single nucleotide polymorphism sites, alleles and risk alleles thereof that are significantly associated with susceptibility to coronary heart disease:

[0022] 1. Method

[0023] Firstly, 1515 patients with coronary heart disease and 5019 normal people were selected as the research objects in the Chinese Han population. Using Affymetrix's genome-wide chip (AffymetrixAxiom TM Genome-Wide CHB 1 ArrayPlate) was detected by the BIO-X Center of Shanghai Jiao Tong University. The genotype data of 1515 patients with coronary heart disease and 5019 normal people were obtained by whole genome microarray SNP. The significance level (P value) of the association between each site in the SNP chip and coronary heart disease was obtained through the statistical analysis of genome-wide association (GWAS), and the potential association with coronary heart disease was found according to the significance level (P value less than 0.001) Chromosomal regions, ...

Embodiment 2

[0036] Example 2 Determination of the most significant representative single nucleotide polymorphism loci associated with susceptibility to coronary heart disease

[0037] 1. Method

[0038] Use Haploview software to calculate the linkage disequilibrium (Linkage disequilibrium, LD) situation between the chromosomal region SNP sites that embodiment 1 gains, use r 2 Represents (0-1). Representative loci with strong linkage disequilibrium were selected and further validated in 11211 patients with coronary heart disease and 7286 control samples by using the FludigmEP 1 gene analysis system (FludigmEP 1 TM GENETIC ANALYSIS system), Taqman MGB probe method genotyped 11211 cases and 7286 control samples, combined the typing results of all 12726 cases and 12305 control samples, analyzed its association with coronary heart disease, and determined the correlation with coronary heart disease Representative SNP loci most significantly associated with susceptibility.

[0039] 2. Inclusi...

Embodiment 3

[0077] Example 3 Use of single nucleotide polymorphism sites significantly associated with susceptibility to coronary heart disease for assessing susceptibility to coronary heart disease

[0078] 1. Method

[0079] Three haplotypes were constructed from the 5p15 region rs117297784, rs1058312, rs9942367, rs17500919, and rs11133787. According to the genotype data of 1515 cases and 5019 control samples obtained by the whole genome chip, these SNP sites and a series of SNPs were analyzed The frequency difference of the haplotypes composed of the loci is different between patients and normal people, and the relationship between the variation of the specific bases at each locus and the haplotype differences composed of them and the susceptibility to coronary heart disease can be obtained. Also apply Fludigm EP1 TM GENETIC ANALYSIS system, Taqman MGB probe method conducts genotyping experiments on the population to be tested, which can determine the susceptible population of coronar...

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Abstract

The invention discloses disease susceptibility associated SNP sites, especially relates to coronary heart disease susceptibility substantially-associated SNP sites of a susceptible region chr5p15, and applications of the SNP sites in the assessment of the susceptibility of the coronary heart disease, and belongs to the biotechnological field. The SNP sites are a series of SNP sites positioned in a segment of a closely linked region of a TRIO gene region of a chromosome 5p15, comprising rs117297784, rs1058312, rs9942367, rs17500919 and rs11133787. According to a method for determining the coronary heart disease susceptible populations through the variation characteristics of the haplotype composed of the SNP sites in the TRIO gene region of the chromosome 5p15 and a series of the SNP sites, the populations without early-stage clinical symptoms of the coronary heart disease, especially coronary heart disease high-risk populations with traditional danger factors, can be non-invasively, rapidly and simply screened, so coronary heart disease susceptible objects can be early discovered, and corresponding health measures can be adopted, thereby the incidences of the coronary heart disease and myocardial infarction are reduced

Description

technical field [0001] The present invention relates to a single nucleotide polymorphism site associated with disease susceptibility, in particular to a single nucleotide polymorphism site in the susceptibility region chr5p15 associated with susceptibility to coronary heart disease and its role in evaluating coronary heart disease The application in susceptibility to heart disease belongs to the field of biotechnology. Background technique [0002] Atherosclerotic cardiovascular and cerebrovascular diseases have become a major health problem worldwide. According to the World Health Organization (WHO) report in 2004, the number of deaths from cardiovascular diseases, mainly coronary heart disease and stroke, is as high as 17.2 million each year, accounting for one-third of all deaths. It is estimated that this number will further increase by 50% in 2020, reaching 25 million. Cardiovascular disease is the "number one killer" of human beings in the world. A large-scale prospe...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
Inventor 顾东风鲁向锋王来元李宏帆郝永臣陈恕凤
Owner FUWAI HOSPITAL OF CARDIOVASCULAR DESEASE CHINESE ACAD OF MEDICAL SCI
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