The SERPING1 gene and age-related macular degeneration.

نویسندگان

  • Rando Allikmets
  • Michael Dean
  • Gregory S Hageman
  • Paul N Baird
  • Caroline C Klaver
  • Arthur A Bergen
  • Bernhard H Weber
چکیده

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Association between the SERPING1 gene and age-related macular degeneration: a two-stage case–control study

BACKGROUND Age-related macular degeneration is the most prevalent form of visual impairment and blindness in developed countries. Genetic studies have made advancements in establishing the molecular cause of this disease, identifying mutations in the complement factor H (CFH) gene and a locus on chromosome 10 encompassing the HTRA1/LOC387715/ARMS2 genes. Variants in complement 3 (C3) and an HLA...

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Background & Aims: To investigate the association of CFI p.Gly119Arg polymorphism with Age-related macular degeneration (AMD). Materials & Methods: In this case-control study, the association of p.Gly119Arg polymorphism in CFI gene was investigated in 65 patients suffering from AMD and150 healthy age, sex and ethnicity matched unrelated people as control group. Both of the case and cont...

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Common variation in the SERPING1 gene is not associated with age-related macular degeneration in two independent groups of subjects

PURPOSE Common genetic variation in the complement component 1 inhibitor gene (SERPING1) was recently reported to increase the risk of developing age-related macular degeneration (AMD). This study was performed to replicate the association between SERPING1 and AMD. METHODS Seven single nucleotide polymorphisms (SNPs) tagging common haplotypes across SERPING1 were genotyped on 786 (The Mayo Cl...

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The effect of genetic variants in SERPING1 on the risk of neovascular age-related macular degeneration.

PURPOSE Genetic factors influence an individual's risk for developing age-related macular degeneration (AMD), a leading cause of irreversible vision loss. Previous studies investigating the potential association between all AMD subtypes and the SERPING1 gene, which encodes a key regulator of the classic complement pathway, have yielded conflicting results. The purpose of this study is to determ...

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An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population

PURPOSE Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study. METHODS Six SNPs, including rs2511990, rs1005510, rs1154666...

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عنوان ژورنال:
  • Lancet

دوره 372 9652  شماره 

صفحات  -

تاریخ انتشار 2008