Susceptibility Genes and Progression in Age-Related Maculopathy: A Study of Single Eyes

Farwick, Astrid; Wellmann, Jürgen; Stoll, Monika; Pauleikhoff, Daniel; Hense, Hans‐Werner

doi:10.1167/iovs.09-3953

Cited by 32 publications

(26 citation statements)

References 44 publications

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“…Eligibility criteria and examination protocols have been described in detail before [10,22,24] . In brief, subjects were residents of the Münster region in northwestern Germany, aged between 60 and 80 years, of Caucasian origin, who had early AMD in at least 1 eye and no contraindications to pupil dilatation, no or minimal lens opacity, and no other factors that prevented clear view of the central retina.…”

Section: Study Populationmentioning

confidence: 99%

“…The selected patients had shown early AMD signs in at least 1 eye in MARS-III and were either homozygous for the risk SNP in the CFH gene (rs1061170) and/or homozygous for the risk SNP in the ARMS2 gene (rs10490924), or they were non-carriers (i.e., carried neither of these risk SNPs in both alleles). The procedure of genotyping was described in detail prior to this [10,11] .…”

Section: Study Populationmentioning

confidence: 99%

“…Previous studies showed that the process of aging in combination with genetic risk factors, smoking, and obesity may lead to the occurrence of AMD and modify its progression [5][6][7][8] . More recently, genetic factors have been shown to be particularly important in disease progression [9][10][11] . In epidemiological genomewide association studies, single nucleotide polymorphisms (SNPs) in specific genes could be identified, and homozygous patients, carrying both risk alleles, were more strongly affected than their heterozygous counterparts or non-carriers [12,13] .…”

mentioning

confidence: 99%

“…In epidemiological genomewide association studies, single nucleotide polymorphisms (SNPs) in specific genes could be identified, and homozygous patients, carrying both risk alleles, were more strongly affected than their heterozygous counterparts or non-carriers [12,13] . Due to their population frequency and effect sizes, SNPs in the CFH and ARMS2 genes contribute most prominently to the incidence and progression of AMD [10,11,[14][15][16] .…”

mentioning

confidence: 99%

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Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration

Oeverhaus

Westrup²,

Dietzel³

et al. 2017

Ophthalmologica

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Purpose: While the importance of risk polymorphisms for the pathogenesis of age-related macular degeneration (AMD) is well established, their impact on morphological and functional phenotypes is largely unclear. We aimed to characterize individual phenotypes in patients who were either homozygous for a risk allele in the CFH gene, ARMS2 gene, or both as compared to non-carriers. Methods: Patients with early AMD (n = 85) were assessed during a follow-up examination of a prospective study (MARS) with multimodal diagnostics including SD-OCT and microperimetry. Results: Compared to non-carriers, OCT scans revealed lower retinal thickness in patients homozygous for CFH or ARMS2, which was caused by a significantly reduced photoreceptor layer. The number and ultrastructure of drusen were also significantly different. Conclusions: These findings indicate that patients with risk alleles demonstrate distinct phenotypic differences of morphology and function as compared to non-carriers. In particular in the CFH group, a loss of photoreceptors occurred concomitantly with reduced retinal sensitivity. Further studies might help to better understand the pathophysiology.

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Section: Study Populationmentioning

confidence: 99%

Section: Study Populationmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration

Oeverhaus

Westrup²,

Dietzel³

et al. 2017

Ophthalmologica

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“…Data on both GA and nAMD were included in the previous genome-wide association study meta-analysis [24]. The differences in some genetic variants and their relative contributions to the development of either exudative or atrophic AMD or the types of drusen have been noted [30,31]. Other explanations for the differences between our results and the meta-analysis include that the studies used in the meta-analysis may have had false-positive results, and heterogeneity originated in variable patterns of linkage disequilibrium between the genotyped SNP and untyped causal alleles [13].…”

Section: Discussionmentioning

confidence: 99%

Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

Yang¹,

Sun²,

Jin

et al. 2014

Ophthalmologica

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Purpose: To identify the associations of the two complement factor I (CFI) polymorphisms rs10033900 and rs2285714 with risk of neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in a Chinese case-control study. Methods: A total of 900 subjects - 300 controls, 300 cases with nAMD and 300 cases with PCV - were included in the present study. Genomic DNA was extracted from venous blood leukocytes. The allelic variants of rs10033900 and rs2285714 were determined by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. The differences in allele distribution between the cases and controls were tested by a χ² test with age and gender adjusted for by logistic regression analysis. We also performed a meta-analysis of the case-control studies of rs10033900 and rs2285714 based on the currently available evidence from the literature. The meta-analysis was conducted via an inverse-variance, fixed-effects model, as previously described. Results: No statistically significant association was observed between the two polymorphisms of CFI and AMD risk, including nAMD, PCV and combined AMD (p > 0.05 for all comparisons). By meta-analysis, we detected significant associations between both of the SNPs and late AMD, which is consistent with previous results (odds ratio, OR, rs10033900 = 0.814, p rs10033900 < 0.001; OR rs2285714 = 1.221, p rs2285714 < 0.001). For rs2285714, the results of the meta-analysis were less reliable due to its heterogeneity. Conclusions: In our case-control study, neither of the two SNPs most studied (rs10033900 or rs2285714) in the CFI gene was a risk factor for developing nAMD or PCV in a Chinese population. Additional large, comprehensive and well-designed association studies are needed to better understand the role of ethnicity and other gene interactions in the association between the CFI gene and AMD.

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AMD Genetics: Methods and Analyses for Association, Progression, and Prediction

Yan

Ding

Weeks

et al. 2021

Age-Related Macular Degeneration

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Susceptibility Genes and Progression in Age-Related Maculopathy: A Study of Single Eyes

Cited by 32 publications

References 44 publications

Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration

Genetic Polymorphisms and the Phenotypic Characterization of Individuals with Early Age-Related Macular Degeneration

Complement Factor I Polymorphism Is Not Associated with Neovascular Age-Related Macular Degeneration and Polypoidal Choroidal Vasculopathy in a Chinese Population

AMD Genetics: Methods and Analyses for Association, Progression, and Prediction

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