Genome and Disease Risk
Genome and Disease Risk

Human Genome Latest Research

Good Health May Be Simpler than We Thought

The human genome is complex. Its 3 billion “base pairs”—fundamental units of chemical coding—make up the blueprint for every cell, organ, and process in your body.  It would be reasonable to assume, then, that your genetically-determined susceptibility to all the diseases that might beset you is a complicated affair, spread throughout your genome. Researchers at the UNC School of Medicine, Lineberger Comprehensive Cancer Center, however, have found evidence that suggests otherwise.

Looking at results from several hundred human Genome-Wide Association Studies (GWAS) done by the National Human Genome Research Institute, they discovered that 90 percent of all locations on the genome have no disease risk association, and even more surprisingly, that nearly a third of all disease risk can be traced to just two “hotspots.”

Genes at the first location determine susceptibility to a broad range of autoimmune diseases such as arthritis, celiac disease, type 1 diabetes, asthma, psoriasis, and lupus. Illnesses associated with the second location include atherosclerosis, heart attacks, stroke, type 2 diabetes, glaucoma, and various cancers—all diseases of aging. The researchers also identified five other less significant hotspots.

It turned out that all of the locations contained genes associated with either immunity or cellular senescence. Senescence is a permanent state in which a cell no longer reproduces. It helps the body suppress tumor growth, but it’s also responsible for many of the aspects of aging.

Since the body handles so many diseases either through immune response or by stopping cellular growth, it’s not surprising that much of overall disease risk is associated with these locations. And with so few of them to look at, determining how sick or healthy you’re likely to be throughout your life may be a simpler task than we thought.