Abstract
Genome-wide association studies (GWAS) have been invaluable in identifying genes associated with susceptibility to and pathogenesis of complex diseases. Numerous studies have been conducted in European and Asian populations. These studies have focused on identifying single-nucleotide variants in various physiological pathways. In bone diseases such as osteoporosis and in cartilage inflammatory responses, including arthritis, variants have been found in endocrine pathways such as estrogen and vitamin D, pathways that regulate bone metabolism, such as osteoprotegerin, and structural pathways. Although a large number of gene variations have been identified, the most significant ones are already considered to be of biomedical interest due to their impact on disease development. This review compiles the main variants associated with osteoporosis and arthritis in sub represented populations. As well as, new variants reported in GWAS besides the effect they generate on cartilage and bone metabolism. We focus on compiles studies that analyze these risk variants in Latin American populations, scarcely studied and underrepresented in biobanks databases. Their risk allele frequencies reported and the implications they could have in precision medicine. In addition to analyzing the genomic structure populations through these variants reported in the Latin American populations.