Complex Diseases: GWAS

By definition, complex diseases are defined as pathologies whose development is influenced by multiple factors. Genetics is only one part and other factors, called environmental, such as lifestyle, diet, the place where we live, our daily stress level, age, etc., can have an impact as important or greater than that of our genes.

In this section we are going to include exclusively complex diseases that have been analyzed using the GWAS (Genome-Wide Association Studies) methodology, i.e. biostatistical analysis, to which we have already referred in the “Methodology” section.

In these pathologies, the information we are going to obtain is based on a comparison with the average of the population. Therefore, your result will indicate whether you are more, equally or less predisposed than the population average. Normally, we will indicate that you have a higher genetic predisposition than the average if you are in the 10% of the population with the highest predisposition to that disease, and lower if you are in the 10% of the population with the lowest predisposition. We remind you, as we have already indicated in this report, that having or not a predisposition does not mean that you will suffer from a disease or that you are free of it, since many other factors have an influence. In addition, it is common to have a higher than average predisposition in a percentage of between 10 and 20% of the pathologies analyzed.

To make it easier to understand the information, we have classified these diseases by medical specialties or areas of the organism.

• Neurology
• Circulatory system
• Digestive system
• Musculoskeletal system
• Endocrinology
• Urogenital system
• Dermatology
• Other

Complex diseases: oncogenic mutations

In this section we continue to analyze complex diseases, i.e. multifactorial diseases, which are influenced by both genetic and environmental factors, but the difference with the previous section is that we rely on the detection of mutations in one or more markers of one or more genes (monovariate or multivariate analysis, as described in the “Methodology” section). These mutations by themselves already mark the genetic predisposition to suffer from that disease, without any comparison with the population. Therefore, in the results of these diseases, we tell you whether or not we have found mutations likely to be pathogenic, and we do not make any comparison with the population. For this section, we consider pathogenic the mutations included in the ClinVar database.

Since, in this type of diseases, the same or different mutations in the same gene can predispose to different pathologies, in this section the features are organized by gene and not by disease.

Complex diseases: other

In this section we include complex diseases, analyzed by detecting mutations in one or more markers of one or more genes (monovariate or multivariate analysis) but which are not related to oncological processes. In other words, they share the same methodology as the previous section but are not cancer-related diseases. As in the previous cases, these are complex diseases and, as such, multifactorial.

Viruses, bacteria and fungi

Genetics plays an important role in the relationship between viruses, bacteria and fungi, and the diseases they can cause. That is, your genes may indicate greater susceptibility or greater resistance to a viral, bacterial or fungal infection. Using all our types of methodologies (GWAS, multivariate or monovariate), in this section we will inform you of your genetic predisposition to multiple infectious diseases, such as tuberculosis, Covid, pneumonia, bronchitis or herpes, among others, and even the risk of aggravation of some of them.