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Comprehensive evaluation method of polygenic diseases genetic risk

A technology of genetic risk and comprehensive assessment, applied in the field of comprehensive assessment of genetic risk of polygenic diseases, to achieve the effect of easy operation

Inactive Publication Date: 2008-11-12
上海中优医药高科技股份有限公司
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, when these research results are actually applied to the assessment of the genetic risk of individual polygenic diseases, there are two problems: one is how to transform the results of population-based molecular epidemiology into individual assessment results; Comprehensive assessment of each genetic risk factor and determination of the corresponding risk level in the population

Method used

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  • Comprehensive evaluation method of polygenic diseases genetic risk
  • Comprehensive evaluation method of polygenic diseases genetic risk
  • Comprehensive evaluation method of polygenic diseases genetic risk

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0027] Individual genetic risk assessment of essential hypertension in Chinese population

[0028] 1. According to the large-scale molecular epidemiological research results of essential hypertension in the Chinese population, the following three gene polymorphism sites were screened out as genetic risk factors.

[0029]

[0030] Some filters are based on:

[0031] Shen Dan, Hadeiwen "Study on the Correlation between Angiotensin Converting Enzyme Genotype and Essential Hypertension in Different Genders"

[0032] In the study of 116 cases of essential hypertension and 91 normal controls in Wuhan, China, Shen Dan et al. found that the DD genotype in the I / D polymorphism of ACE had a significant effect on the incidence of essential hypertension and the increase of blood pressure in men. There is a significant effect (P<0.05).

[0033] Logistic regression analysis of multiple factors such as polymorphism of angiotensin II receptor gene and left ventricular remodeling in hyper...

Embodiment 2

[0052] Implementation Example 2: Individual Genetic Risk Assessment of Alzheimer's Disease in the Chinese Population

[0053] According to steps 1, 2, and 3, 4 polymorphic sites were selected, of which 3 sites were three genotypes, and 1 site was six genotypes. After determining the frequency and risk of each genotype, the formation The following table.

[0054]

[0055] Import the above table Import the above table figure 1 In the calculation program, the corresponding table for the evaluation of the genetic risk coefficient of the disease can be calculated as follows:

[0056]

[0057]

[0058]

[0059]

[0060] Individuals have undergone genetic testing of the above four loci, and after determining their haplotypes, they can obtain the corresponding risk assessment coefficients according to the above table. For example: the haplotype of the test result is a1b1c1e1, according to the above table, the corresponding risk assessment coefficient is 1, which means...

Embodiment 3

[0061] Example 3: Individual genetic risk assessment of lung cancer in the Chinese population

[0062] According to steps 1, 2, and 3, 5 polymorphic sites were selected, of which 3 sites were three genotypes, and 2 sites were 2 genotypes. After determining the frequency and risk of each genotype, the formation The following table.

[0063]

[0064] Import the above table Import the above table figure 1 In the calculation program, the corresponding table for the evaluation of the genetic risk coefficient of the disease can be calculated as follows:

[0065]

[0066]

[0067]

[0068]

[0069] Individuals have undergone genetic testing of the above five loci, and after determining their haplotype, the corresponding risk assessment coefficient can be obtained according to the above table. For example, the haplotype of the test result is a2b1c2e2f1. According to the above table, the corresponding risk assessment coefficient is 0.571729024, meaning that it belongs ...

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Abstract

The invention relates to a method for performing multi-gene disease inheritance risk comprehensive assessment to an individual. The method comprises the following steps that: inheritance risk factors of a special multi-gene disease in a special crowd are screened; the risk degree of each risk factor to the special multi-gene disease is determined; and resources such as NCBI, HapMap databases and so on, are utilized to determine the frequencies of gene types of polymorphic gene type loci in the special crowd. The method is characterized in that: an assessment model is established, and the risk rank of the multi-gene disease of the individual is assessed from the genetic angle. The method is a comprehensive, objective, easily-operated, and intellectualized risk assessment method.

Description

technical field [0001] The invention relates to a comprehensive assessment method for genetic risk of polygenic diseases, which can be used for two or more genetic risk factors, and each genetic factor can contain two or more genotypes. The method belongs to molecular biology field of technology. Background technique [0002] With the completion of the Human Genome Project's sequencing of the entire human genome, scientists have gained a better understanding of the total number, functions, and polymorphic sites of human genes. The types of gene polymorphisms currently found are mainly SNPs (single nucleotide polymorphisms) on DNA, base insertions and deletions, repeat polymorphisms of small satellite fragments, and the like. The polymorphisms of these gene loci are considered to be used for primary screening of disease-related loci and assessment of disease risk. [0003] Polygenic diseases are hereditary diseases caused by the joint action of multiple genes and environmen...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
Inventor 傅咏南邵敏华王校
Owner 上海中优医药高科技股份有限公司
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