Association of Apolipoprotein E Polymorphisms with Age-related Macular Degeneration Subtypes: An Updated Systematic Review and Meta-analysis

Mao, Xiying; Wu, Wenbo; Fang, Wangyi; Liu, Qinghuai

doi:10.1016/j.arcmed.2017.08.002

Cited by 31 publications

(38 citation statements)

References 37 publications

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“…45,46 Another large meta-analysis reported an association between a single-nucleotide polymorphism (SNP) in the promoter region of APOE (rs449647) and glaucoma 47 ; this SNP, however, is not associated with AD. 48 Interestingly, APOE ε4 is associated with decreased risk for another common neurodegenerative disease of the eye, age-related macular degeneration (AMD), [49][50][51][52] opposite of its effect on AD. To our knowledge, the genetic association between TREM2 and POAG has not been previously explored.…”

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confidence: 99%

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4

Margeta

Letcher

Igo

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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Prior studies have demonstrated that microglial activation is involved in the pathogenesis of primary open-angle glaucoma (POAG). Here we sought to identify genetic associations between POAG and variants in APOE and TREM2, genes associated with Alzheimer disease (AD) that critically regulate microglial neurodegenerationassociated molecular signature. METHODS. APOE genotypes were called using imputed data from the NEIGHBOR consortium (2120 POAG cases, 2262 controls) and a second cohort from the Massachusetts Eye and Ear Infirmary (MEEI; 486 cases, 344 controls). TREM2 coding variants were genotyped by means of the Illumina HumanExome BeadArray. The data set was analyzed for association with POAG overall, as well as the high-tension glaucoma (HTG) and normaltension glaucoma (NTG) subgroups, using logistic regression adjusting for age and sex. RESULTS. In the combined NEIGHBOR-MEEI data set, significant association was observed for APOE ε4 in POAG overall (odds ratio [OR], 0.83; 95% confidence interval [CI], 0.74-0.94; P = 0.0022) and in both the HTG subgroup (OR, 0.81; 95% CI, 0.70-0.94; P = 0.0052) and NTG subgroup (OR, 0.71; 95% CI, 0.58-0.87; P = 0.0014). A rare TREM2 variant (A105V) was found only in HTG cases (3 of 2863 cases) and in none of the controls (P = 0.03). Three TREM2 rare variants associated with AD were not significantly associated with POAG (P > 0.05). CONCLUSIONS. We have found that the APOE ε4 allele is associated with a reduced risk of POAG. Interestingly, the same allele is adversely associated with AD, suggesting a mechanistic difference between neurodegenerative diseases of the eye and the brain. TREM2 variants associated with AD did not significantly contribute to POAG risk.

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confidence: 99%

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4

Margeta

Letcher

Igo

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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“…A genome-wide association study (GWAS) in 2005 confirmed the association between AMD risk and genetic variations, suggesting that AMD is a polygenic disease [10], and in the following 15 years triggered many studies involving AMD genetic association [11][12][13]. So far, polymorphism about age-related maculopathy susceptibility 2 (AMRS2) rs10490924, complement factor H (CFH), complement 2 (C2)/complement factor H (CFB), complement component C3 and apolipoprotein E (APOE) haplotypes have been demonstrated as associated factors with susceptibility to AMD [14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects

et al. 2020

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Background: The high-temperature requirement factor A1 (HTRA1) gene located at 10q26 locus has been associated with age-related macular degenerative (AMD), with the significantly related polymorphism being (rs11200638, −625G/A), however, above association is not consistent. We investigated a comprehensive analysis to evaluate the correlations between rs11200638 polymorphism and AMD susceptibility thoroughly addressing this issue. Methods: An identification was covered from the PubMed and Wanfang databases until 27th Jan, 2020. Odds ratios (OR) with 95% confidence intervals (CI) were applied to evaluate the associations. After a thorough and meticulous search, 35 different articles (33 case-control studies with HWE, 22 case-control studies about wet/dry AMD) were retrieved. Results: Individuals carrying A-allele or AA genotype may have an increased risk to be AMD disease. For example, there has a significantly increased relationship between rs11200638 polymorphism and AMD both for Asians (OR: 2.51, 95%CI: 2.22-2.83 for allelic contrast) and Caucasians [OR (95%CI) = 2.63(2.29-3.02) for allelic contrast]. Moreover, a similar trend in the source of control was detected. To classify the type of AMD, increased association was also observed in both wet (OR: 3.40, 95%CI: 2.90-3.99 for dominant model) and dry (OR: 2.08, 95%CI: 1.24-3.48 for dominant model) AMD. Finally, based on the different genotyping methods, increased relationships were identified by sequencing, TaqMan, PCR-RFLP and RT-PCR. Conclusions: Our meta-analysis demonstrated that HTRA1 rs11200638 polymorphism may be related to the AMD development, especially about individuals carrying A-allele or AA genotype, who may be as identified targets to detect and intervene in advance. Further studies using Larger sample size studies, including information about gene-environment interactions will be necessary to carry out.

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“…A genome-wide association study (GWAS) showed a clearer view about significant links between AMD risk and genetic variations in 2005, suggesting AMD is a polygenic disease [10], which triggered numerous studies involving the genetic associations of AMD in the following 15 years [11][12][13]. So far, AMRS2 rs10490924 polymorphism, SNPs from complement factor H, C2/CFB, complement component C3, APOE haplotypes have been confirmed as being associated with susceptibility of AMD [14][15][16][17][18].…”

Section: Introductionmentioning

confidence: 99%

High-temperature requirement factor A1 rs11200638 polymorphism and age-related macular degenerative from a comprehensive analysis about 15316 subjects

Liu¹,

Jin²,

Wei³

et al. 2020

Preprint

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Background The high-temperature requirement factor A1 (HTRA1) gene at the 10q26 locus has been associated with age-related macular degenerative (AMD) risk, with the significantly associated polymorphism being (rs11200638, -625G/A), however, above association is not consistent. We investigated an updated meta-analysis to evaluate the association between rs11200638 polymorphism and AMD risk thoroughly addressing this issue. Methods An identification was covered with the Pubmed and Chinese Wanfang databases through 27th Jan, 2020. Odds ratios (OR) and 95% confidence intervals (CI) were used to assess the strength of associations. After a thorough and meticulous search, 35 different articles (33 case-control studies with HWE, 22 case-control studies about wet/dry AMD) were retrieved. Results Individuals carrying A-allele or AA genotype may have an increased risk to be AMD disease. For example, there has a significantly increased relationship between rs11200638 polymorphism and AMD both for Asians (OR: 2.50, 95%CI: 2.22-2.80 for A-allele vs. G-allele) and Caucasians (OR: 2.11, 95%CI: 1.43-3.13 for A-allele vs. G-allele). Moreover, a similar trend in the source of control subgroup was detected. To classify the type of AMD, increased association was also observed in both wet (OR: 3.40, 95%CI: 2.90-3.99 for dominant model) and dry (OR: 2.08, 95%CI: 1.24-3.48 for dominant model) AMD. Finally, based on the different genotyping methods, increased relationships were identified by sequencing, TaqMan, PCR-RFLP. Conclusions Our present meta-analysis suggests that the HTRA1 rs11200638 polymorphism are potentially associated with the risk of AMD development, especially about individuals carrying A-allele or AA genotype, who may be as identified targets to detect and intervene in advance. Further studies using larger sample sizes and including information about gene-environment interactions should be conducted to elucidate.

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Association of Apolipoprotein E Polymorphisms with Age-related Macular Degeneration Subtypes: An Updated Systematic Review and Meta-analysis

Cited by 31 publications

References 37 publications

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4

Association of APOE With Primary Open-Angle Glaucoma Suggests a Protective Effect for APOE ε4

HTRA1 rs11200638 variant and AMD risk from a comprehensive analysis about 15,316 subjects

High-temperature requirement factor A1 rs11200638 polymorphism and age-related macular degenerative from a comprehensive analysis about 15316 subjects

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