Role of genetic variability in Mendelian and multifactorial diseases

Abstract

VNTRs and STRs have been used in linkage studies to detect regions involved with Mendelian (or monogenic) diseases, such as Duchenne or Becker muscular dystrophy, cystic fibrosis, sickle cell anemia, etc., which due to their low prevalence are quite rare in populations. These diseases have the characteristic that a single altered gene results in a phenotype (Fig. 1), given that the mutation has great biological effect; however, there are always exceptions and, in some cases, even if a mutation occurs, it will not lead to the disease

Effects of genetic variation on the structure of RNA and protein

“…RNA molecules fold into complex structures due to intramolecular interactions between nucleotides, a folding process that involves not only simpler secondary structures but also forces in three dimensions. In this process, GV can directly affect the structure of coding RNA molecules by changing sequence [4, 5], or affect the non‐coding RNA (ncRNA) involved in biological processes [6], such as microRNA (miRNA) [7], mitochondrial tRNAs (mt‐tRNAs) [8, 9], and long non‐coding RNA (lncRNA) [10, 11].…”

Polymorphism rs7214723 in CAMKK1: a new genetic variant associated with cardiovascular diseases

“…In addition to lifestyle habits (tobacco usage, unhealthy diet, alcohol abuse, physical inactivity), it is important to stress that CVDs represent a complex trait with multiple genetic and environmental components. Since complex diseases do not follow a clear pattern of Mendelian inheritance, the study of genetic variants in candidate genes is expected to provide insights into the genetic basis of not only for disease predisposition but also for responses to drugs and aging [4][5][6].…”