SynthesisMolecular biology reports2013
Cumulative association between age-related macular degeneration and less studied genetic variants in PLEKHA1/ARMS2/HTRA1: a meta and gene-cluster analysis.
Synthesis in Molecular biology reports, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Association of coding and UTR variants in the known regions with wet age-related macular degeneration in Han Chinese population.Journal of human genetics · 2018Trial
- Association of NLRPs with pathogenesis of dry age-related macular degeneration.International ophthalmology · 2023Article
- Rare Genetic Variants in Jewish Patients Suffering from Age-Related Macular Degeneration.Genes · 2019Article
- Transcriptome-wide analysis of differentially expressed chemokine receptors, SNPs, and SSRs in the age-related macular degeneration.Human genomics · 2019Article
- Polymorphisms in Selected Genes and Their Association with Age-Related Macular Degeneration in a Chinese Population.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Geographic atrophy phenotype identification by cluster analysis.The British journal of ophthalmology · 2018Article
- Age-related macular degeneration associated polymorphism rs10490924 in ARMS2 results in deficiency of a complement activator.Journal of neuroinflammation · 2017Article
- Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression ofMolecular vision · 2017Article
- Phenome-wide association studies (PheWASs) for functional variants.European journal of human genetics : EJHG · 2015Article
- Complement activation and choriocapillaris loss in early AMD: implications for pathophysiology and therapy.Progress in retinal and eye research · 2015Review
Corrections and comments
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Authors and funding
6 authors at 6 institutions in 2 countries.
Funding
Abstract
The objective of this study is to examine the cumulative effect of the less studied genetic variants in PLEKHA1/ARMS2/HTRA1 on age-related macular degeneration (AMD). We performed an extensive literature search for studies on the association between AMD and the less studied genetic variants in PLEKHA1/ARMS2/HTRA1. Multiple meta-analyses were performed to evaluate the association between individual genetic variants and AMD. A gene-cluster analysis was used to investigate the cumulative effect of these less studied genetic variants on AMD. A total of 23 studies from 20 published papers met the eligibility criteria and were included in our analyses. Several genetic variants in the gene cluster are significantly associated with AMD in our meta-analyses or in individual studies. Gene-cluster analysis reveals a strong cumulative association between these genetic variants in this gene cluster and AMD (p < 10(-5)). However, two previously suspected SNPs in ARMS2, including rs2736911, the SNP having the largest number of studies in our meta-analyses; and rs3793917, the SNP with the largest sample size, were not significantly associated with AMD (both p's > 0.12). Sensitivity analyses reveal significant association of AMD with rs2736911 in Chinese but not in Caucasian, with c.372_815del443ins54 in Caucasian but not in Chinese, and with rs1049331 in both ethnic groups. These less studied genetic variants have a significant cumulative effect on wet AMD. Our study provides evidence of the joint contribution of genetic variants in PLEKHA1/ARMS2/HTRA1 to AMD risk, in addition to the two widely studied genetic variants whose association with AMD was well established.
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