The role of molecular genetic factors in age-related macular degeneration.
Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Recently, single nucleotide polymorphisms, DNA sequence variations found within the complement factor H (CFH) gene, have been found to be strongly associated with the development of AMD. Several other genes have had at least one positive association finding and deserve further exploration. The purpose of this review is to provide an extensive report of the current data of AMD genetics and the contribution of this knowledge helps to the better understanding of its pathophysiology.
Almeida
Luciana Negrão Frota de
LN
Hospital São Geraldo e Instituto Nacional de Ciência e Tecnologia de Medicina Molecular, Laboratório de Genética Molecular, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brazil. luciananfalmeida@gmail.com
Carolino
Rachel Melilo
RM
Sperandio
Diogo Cazelli
DC
Nehemy
Márcio Bittar
MB
De Marco
L A
LA
D018450:Disease Progression; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008268:Macular Degeneration / Q000235:genetics*; D011110:Polymorphism, Genetic; D012307:Risk Factors