Comprehensive genetic analysis method of susceptibility of complex diseases

Abstract

The invention relates to a comprehensive genetic analysis method of susceptibility of complex diseases, which comprises the following steps: 1) establishing related genetic databases of complex diseases and determining related detection sites; 2) carrying out genotyping for SNPs sites within individual whole genome by using the Affymetrix6.0 chip technology to obtain the corresponding genotype of each SNP site; 3) exporting determined disease-related SNP site typing results from 900,000 SNP site detection results of a 6.0 chip, and calculating a CGR value according to the genotyping results; and 4) carrying out particular and deep genetic analysis for increased-risk diseases and high-risk diseases according to the calculated disease-related CGR value. The invention can improve the certainty of the susceptibility predication of complex diseases of Chinese Han population, shortens genetic analysis time and prevents calculation errors caused by manual calculation.

Description

technical field [0001] The invention relates to a method for comprehensive genetic analysis of complex disease susceptibility. Background technique [0002] Complex diseases, such as hypertension, coronary heart disease, etc., have high morbidity and mortality, and have become the main reason affecting the overall health level of our country, and also an important factor restricting the social and economic development of our country. Genetic detection of complex disease-related genes and mutation sites can assess the susceptibility of diseases early and take corresponding preventive measures to reduce the incidence of diseases. A large number of studies have confirmed that genetic factors play an important role in the susceptibility of diseases. The genetic factors of complex diseases have confirmed the existence of minor gene dosage effects, that is, the accumulation of minor gene effects can form a significant phenotypic comprehensive effect. Therefore, for many The detec...

AI Technical Summary

Problems solved by technology

At present, the genetic analysis of complex diseases by calculating the CGR value has not been reported in my country.

[0005] 2. Although there are many research results on finding susceptibility genes and SNP sites related to complex diseases, due to the obvious differences in SNP sites between races or groups and the types and effects of other risk factors related to diseases of various races or groups The intensity is also different. Therefore, genetic testing and genetic analysis for complex diseases of the Chinese Han must be based on the proprietary data of the Chinese Han. Lack of effective integration and evaluation system for SNP sites

[0006] 3. The CGR calculation process is cumbersome and time-consuming, and the genetic analysis takes a long time, which cannot well meet the customer's requirements for shortening the genetic testing and genetic analysis cycle

[0007] 4. Because western developed countries use the Affymetrix6.0 chip to conduct genome-wide association analysis research results, the detection sites they choose are all sites obtained from genome-wide association analysis for European and American populations, which are relatively reliable; while my country So far, there are few research results of genome-wide association analysis of complex diseases, but there are many complex disease-related loci obtained by the candidate gene method, but there is a lack of effective integration of these loci. How to effectively integrate these loci It is the main factor to determine the predictability of susceptibility to complex diseases in my country at this stage