Seminario 21 PARTE B Herencia compleja o multifactorial - María Paz Bidondo

Hello, how are you? My name is Maria Pazvidondo. I will accompany you in this second part or part B of seminar 22. We already saw in part A the conceptualization and characteristics of the type of complex multifactorial inheritance. And now we are going to look at some study approaches such as Shivos and PRS and the differences between these

categories, monogenic, digenic, olevogosenic and polygenic entities. At the end of the other presentation, we saw some characteristics to highlight, such as that the term multifactorial as a concept describes a complex, non-Mendelian inheritance, which does show familial aggregation, but does not have those inheritance patterns of the characteristic Mendelian trees and which are caused by the

interaction of several genetic factors which in this case are what we define as variants. of susceptibility or variants that have very low penetrance and high frequency and environmental risk factors. So, we had worked with this scheme where we said that the variants we called pathogenic, which were the ones we used in Mendelian monogenic entities

, were in this part of the graph, where they are very rare in frequency in the population, but have a, in general, high or intermediate penetrance, that is, a lot of effect when they are present in a cellular process, in a biological process. In contrast, the variants we were working on here in

multifactorial studies were in this part of the graph, those we call susceptibility variants, where they are frequent in the population. Note that they can be up to 10%, for example, or more. And these variants have little penetration, meaning that each one in isolation does not change the effect of the process, but in their