The role of molecular genetic factors in age-related macular degeneration

Arquivos Brasileiros de Oftalmologia

Luciana Negrão Frota De Almeida²  Rachel Melilo Carolino¹  Diogo Cazelli Sperandio¹  Márcio Bittar Nehemy¹  La De Marco¹ 

[1] ,Universidade Federal de Minas GeraisBelo Horizonte MG ,Brazil

关键词: Macular degeneration;    Age effect;    Complement factor H;    Base sequence;    Polymorphism;    single nucleotide;    Inflammation;    Degeneração macular;    Fator idade;    Fator do complemento H;    Sequência de bases;    Polimorfismo de um único nucleotídeo;    Inflamação;   

DOI  :  10.1590/S0004-27492009000400027

来源: SciELO

【 摘 要 】

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.

【 授权许可】

CC BY   
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