A Clinician's View of the Molecular Genetics of Age-Related Maculopathy

Gorin, Michael B.

doi:10.1001/archopht.125.1.21

Cited by 32 publications

(22 citation statements)

References 65 publications

(56 reference statements)

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“…43 Genetic studies revealed highly significant associations between AMD and variants of several complement pathway-associated genes, including complement factor H, complement factor H-related 1 and 3, complement factor B, complement component 2 and complement component 3. [39][40][41][42]44 Associations between markers of inflammation (such as C-reactive protein) and AMD have been observed in some 45,46 but not all 47 previous epidemiological studies. Results of the Beaver Dam Eye Study indicated an association between histories of gout and emphysema, two diseases associated with inflammation, and intermediate and late stages of AMD.…”

Section: Discussionmentioning

confidence: 99%

Reconsidering the connection between vitamin D levels and age-related macular degeneration

Golan

Shalev

Treister

et al. 2011

Eye

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Section: Discussionmentioning

confidence: 99%

Reconsidering the connection between vitamin D levels and age-related macular degeneration

Golan

Shalev

Treister

et al. 2011

Eye

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“…AMD is caused by interactions of environmental and genetic factors, and it is believed that genetic factors contribute strongly to AMD. [5][6][7] Thus, AMD-associated genetic factors may also be associated with the development of CNV in highly myopic eyes of elderly patients.…”

Section: Introductionmentioning

confidence: 99%

ARMS2/HTRA1 and CFH polymorphisms are not associated with choroidal neovascularization in highly myopic eyes of the elderly Japanese population

Nakanishi

Gotoh

Yamada

et al. 2009

Eye

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Purpose The purpose of this study was to investigate whether the genetic risk factors of age-related macular degeneration (AMD) are associated with the development of choroidal neovascularization (CNV) in highly myopic eyes of elderly Japanese. Methods Highly myopic elderly Japanese patients with and without CNV were genotyped for three AMD-associated single nucleotide polymorphisms (SNPs), namely rs10490924 (A69S) of ARMS2, rs11200638 of HTRA1, and rs1061170 (Y402H) of complement factor H (CFH), with the TaqMan SNP assay. One hundred and eighty-three unrelated highly myopic (axial lengths 426.00 mm or refractive errors 4À6.0 diopters) Japanese patients with CNV who were X50 years of age (mean age ± standard deviation of 62.7 ± 6.3 years) and 170 highly myopic patients without CNV who were X50 years old (62.3±7.1 years) were studied. The differences in the genotypic distributions for the three SNPs between the two groups were tested with the Trend v 2 test, and logistic regression analyses were performed for age and gender adjustment. Results No significant difference was detected in the distribution of the three SNPs, rs10490924 (P40.1), rs11200638 (P40.1), and rs1061170 (P40.5), between the two groups even after adjustments for age and gender differences. Conclusion The genetic risk factors of AMD related to these SNPs do not contribute significantly to the development of CNV in a highly myopic elderly Japanese population.

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“…4,5 Simultaneously, more than a decade of genetic research directed our attention to multiple chromosomal loci that exhibited significant associations with AMD. 6–10 More recently, near completion of the Human Genome Project, the development of the International HapMap Project library of single-nucleotide polymorphisms (SNPs), and the development of statistical tools for analyzing large quantities of data have provided powerful new tools to investigators seeking to identify AMD-associated genes. 11,12 These high-throughput genotyping technologies allowed researchers to screen numerous unrelated individuals for common variations (eg, SNPs) that could be analyzed statistically for their probable relationship to AMD.…”

mentioning

confidence: 99%