Researchers from Queen Mary University of London led the completion of the largest human disease sequencing study to date, investigating the genetic basis of six autoimmune diseases. The results of the study were published in the May 22 issue of Nature. These six diseases are autoimmune thyroid disease, celiac disease, Crohn's disease, psoriasis, multiple sclerosis, and type 1 diabetes. The exact cause of these diseases is currently unclear, and it is considered genetic and environmental Caused by the complex combination of factors. The genetic variation that has been identified can only explain the heterogeneity of each disease component. So far, the techniques used usually identify common variations in groups with only weak effects.
In this study, a research team of scientists from around the world used high-throughput sequencing technology to try to identify the past in a sample of nearly 42,000 individuals (24,892 autoimmune disease patients and 17,019 controls) New identified 25 risk gene variants, including rare variants and potentially high-risk variants. In a "rare variant comprehensive genome-wide association hypothesis", it was suggested that a small number of rare mutations in risk genes may be the main reason for the heterogeneity of these diseases.
However, new Nature research shows that the genetic risk of these diseases is more likely to be related to a complex combination of hundreds of common weak-effect variants in the population. The authors estimate that for diseases that can be explained by common mutations, the rare mutations in these risk genes only cause about 3% heterogeneity.
The leader of the study, David van Heel, professor of gastrointestinal genetics at Queen Mary University of London, said: "The findings show that the risk of these autoimmune diseases is not attributed to a small number of high-risk genetic variants, but has a weak Many common genetic variations of the effects are caused by random selection. "
"Hundreds and thousands of such mutations are possible in every disease, and the genetic risk may come from the large number of these mutations inherited from the parents. If this is the case, we may never be able to accurately predict Individuals suffer from the genetic risk of these common autoimmune diseases. However, the new research results provide us with important information about the biological basis of these diseases and related signaling pathways, which may prompt the discovery of new drug targets.
The study used high-throughput sequencing technology and proved for the first time that sequencing can be as accurate as a genotyping chip platform and can be used as a "gold standard technology" for genotyping. The paper ’s co-author, Barts, and Richard Trembath, vice president of the London School of Medicine and Dentistry, said: “The findings suggest that the genetic structure that determines the risk of the formation of common autoimmune diseases needs to be reassessed. Regions of the human genome outside these sensitive areas of medical disease. "
Sintered Stone is very attractive, durable, and non-porous, making it one of the easiest countertop materials to care for and maintain. Different shades of slate include green, black, dark red, gray, or even mottled purple. It has a stylish uniform look that is ideal for modern design settings.
Because of its nature, Slate can easily be split into thin piece. Slate is most frequently used for floors, fireplace surrounds and hearths, bathroom applications, and countertops.
Sintered Stone
Slate Stone Tiles,Sturdy Slate Stone Tiles,Beauty Slate Stone Tiles,Colorful Slate Stone Tiles
Guangzhou Jade River Enterprises Co.,Ltd. , https://www.gzjaderiver.com