Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

Fisher, Sheila; Rivera, Andrea; Fritsche, Lars G.; Babadjanova, Gulja; Петров, С. Н.; Weber, Bernhard H. F.

doi:10.1136/bjo.2006.105577

Cited by 37 publications

(18 citation statements)

References 20 publications

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“…Moreover, assessment of differences between patients with GA and CNV has shown that the 270 T allele is primarily [28,29]. However, to our knowledge, the association of LOC387715 with the early stages of the disease has not been estimated in these or other studies.…”

Section: Discussionmentioning

confidence: 82%

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

Marioli

Pharmakakis

Deli

et al. 2009

Graefes Arch Clin Exp Ophthalmol

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Section: Discussionmentioning

confidence: 82%

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

Marioli

Pharmakakis

Deli

et al. 2009

Graefes Arch Clin Exp Ophthalmol

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“…This association was reported in Northern Americans [17,25], and this was later confirmed in European [26,27,28,29] and Chinese populations [30]. In addition, genotype-phenotype correlation studies have suggested that the AMD-associated CFH genetic variant may also play a role in the type or size of neovascular lesions in exudative AMD and in response to treatment with anti-vascular endothelial growth factor (anti-VEGF) therapy such as bevacizumab [31].…”

Section: Introductionmentioning

confidence: 59%

Y402H Polymorphism in Complement Factor H and Age-Related Macular Degeneration in the Tunisian Population

Habibi¹,

Sfar²,

Kort

et al. 2013

Ophthalmic Res

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To evaluate a possible association between the complement factor H (CFH) Y402H polymorphism and susceptibility to age-related macular degeneration (AMD) in the Tunisian population, as well as the impact of the genotype distribution among different phenotypes and the response to treatment with intravitreal bevacizumab, exon 9 of CFH was analyzed for the Y402H polymorphism by direct sequencing in 135 healthy controls and 127 sporadic unrelated AMD patients classified into the following groups: 12 atrophic AMD (group G1), 115 exudative AMD (G2) and 10 AMD patients who had fibrovascular scarring (G3) that did not allow a precise grading of the phenotype. Seventy patients in G2 were treated with 1.25 mg intravitreal bevacizumab at 6-week intervals until choroidal neovascularization (CNV) was no longer active. The frequency of the CFH 402H allele was significantly higher in AMD patients than in controls (p = 2.62 × 10^–16). However, subgroup analysis does not reveal any association between the variant allele H and phenotypes of AMD or CNV. Also, there was no significant difference in response to bevacizumab treatment according to Y402H CFH genotype (p = 0.59). A strong association of the 402H allele with susceptibility to AMD in the Tunisian population was confirmed; however, this variant does not appear to be involved in the clinical progression of this disease or in the postintravitreal bevacizumab response.

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“…The ORs for the Hong Kong population were similar to those of the Caucasian population. Studies have also found associations between the ARMS2 SNP and AMD in Russian [21], German [15] and Japanese populations [39].…”

Section: Plekha1/arms2/htra1mentioning

confidence: 96%

“…Specific associations have been identified in the populations of France, The Netherlands, Iceland, India, Germany, UK, China, Russia and Australia [12,[15][16][17][18][19][20][21][22]. The Y402H polymorphism does not appear to be an AMD risk factor in the Japanese population [23].…”

Section: Complement Factor Hmentioning

confidence: 99%

Genetic markers and biomarkers for age-related macular degeneration

Ross

Verma²,

Rosenberg³

et al. 2007

Expert Review of Ophthalmology

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Age-related macular degeneration (AMD) is the leading cause of visual impairment and blindness in the USA. Although the treatment of AMD has evolved to include laser photocoagulation, photodynamic therapy, surgical macular translocation and antiangiogenesis agents, treatment options for advanced AMD are limited. Furthermore, the dry form of AMD, albeit less devastating than the wet form, has even fewer viable treatment options. This review summarizes the various biomarkers of AMD and analyzes whether or not they may one day be exploited to determine risks of disease onset, measure progression of disease or even assess the effects of treatment of AMD. Potential biomarkers are important to identify since some might be utilized to reflect the disease state of a particular patient and to individualize therapy. Although studies have yielded promising results for nutrient and inflammatory biomarkers, these results have been inconsistent. At present, the best available markers of AMD risk are single nucleotide polymorphisms (SNPs). SNPs in complement factor H (CFH) and PLEKHA1/ARMS2/HtrA1 capture a substantial fraction of AMD risk and permit the identification of individuals at high risk of developing AMD. Keywordsage-related macular degeneration; biomarker; genetic marker; inflammation; nutrient; risk assessment; single nucleotide polymorphism; target molecules † Author for correspondence 10/10N103, 10 Center Drive, Bethesda, MD 20892-1857 NIH-PA Author ManuscriptNIH-PA Author Manuscript NIH-PA Author ManuscriptAge-related macular degeneration (AMD) is a disease characterized by chronic and progressive degeneration of photoreceptors, the underlying retinal pigment epithelium (RPE), Bruch's membrane and, possibly, the choriocapillaries in the macula. Clinical and pathological features of AMD include thickened Bruch's membrane, drusen formation, pathological changes of the RPE, photoreceptor atrophy, choroidal neovascularization (CNV) and/or fibroglial tissue in the macula. These alterations result in the loss of central visual acuity [1].AMD is the leading cause of visual impairment and blindness in the USA [2]. To date, there is no proven treatment of advanced or early AMD. Low-intensity laser treatment in patients with bilateral large drusen has not been shown to be effective in the prevention of vision loss [3]. Medical therapy of AMD has focused mainly on treatments of CNV. Of these treatments, most target vascular endothelial growth factor (VEGF), which is recognized as the major angiogenic factor.The etiology of AMD remains elusive. AMD pathogenesis involves environmental factors and varying susceptibilities to these external factors based upon different genetic backgrounds [4]. Many efforts have been made to identify genetic markers or biological features that can be used to predict the risk of disease onset and measure the progression of AMD or the effects of treatment. Given that serum and tissue levels of select nutrients, such as xanthophylls, have shown to be associated with a decreased risk of AMD...

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Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

Cited by 37 publications

References 20 publications

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

Complement factor H and LOC387715 gene polymorphisms in a Greek population with age-related macular degeneration

Y402H Polymorphism in Complement Factor H and Age-Related Macular Degeneration in the Tunisian Population

Genetic markers and biomarkers for age-related macular degeneration

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