Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
Abstract
Age-related macular degeneration (AMD) is a multifactorial disease and a prevalent cause of visual impairment in developed countries. Risk factors include environmental components and genetic determinants. The complement factor H (CFH) has been the first major susceptibility gene for AMD identified within 1q32. Here, we focused on a second region of interest in 10q26 where a recent meta-analysis revealed strongest evidence for linkage to AMD at a genome-wide significance level. Within an interval of 22 Mb, we have analyzed 93 single nucleotide polymorphisms for allelic association with AMD in two independent case-control cohorts of German origin (AMD(combined) n=1166; controls(combined) n=945). Significant association was found across a 60 kb region of high linkage disequilibrium harboring two genes PLEKHA1 and hypothetical LOC387715. The strongest association (P=10(-34)) centered over a frequent coding polymorphism, Ala69Ser, at LOC387715, strongly implicating this gene in the pathogenesis of AMD. Besides abundant expression in placenta, we demonstrate weak expression of LOC387715 in the human retina. At present, however, there is no functional information on this gene, which appears to have evolved recently within the primate lineage. The joint contribution of the common risk allele at LOC387715, Ala69Ser, and at CFH, Tyr402His, was assessed in our case-control population, which suggests an additive model indicating an independent contribution of the two gene loci to disease risk. Our data show a disease odds ratio of 57.6 (95% CI: 37.2, 89.0) conferred by homozygosity for risk alleles at both CFH and LOC387715 when compared with the baseline non-risk genotype.
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The association of the ARMS2 gene with AMD, especially advanced AMD, has been replicated in many independent studies.
“The association of ARMS2 gene with AMD, especially advanced AMD, susceptibility has now been replicated in numbers of independent studies (Conley et al., 2006; Rivera et al., 2005; Ross et al., 2007; Schmidt et al., 2006; Seddon et al., 2007; Kanda et al., 2007).”
From Molecular pathology of age-related macular degeneration (2009) · cites this paper as Rivera et al., 2005
Genes in the complement pathway and a region of chromosome 10 have been implicated as the major genetic contributors to AMD.
“Genes in the complement pathway4–11 and a region of chromosome 10 12,13 have now been implicated as the major genetic contributors to disease.”
From Seven new loci associated with age-related macular degeneration (2013) · cites this paper as [12]
Two reports implicated HTRA1 as a target of AMD susceptibility, whereas recent studies support the original claim of ARMS2 as a stronger candidate.
“Whereas two reports implicated HTRA1 as a target of AMD susceptibility (37, 167), recent studies support the original claim (122) of ARMS2 (previously LOC387715) as a stronger candidate (52, 82).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [122]
The association signal in the ARMS2/HTRA1 region was initially identified as a result of fine-mapping efforts designed to narrow the chromosome 10q26 linkage peak.
“The association signal in this region was initially identified as a result of fine-mapping efforts designed to narrow the chromosome 10q26 linkage peak (80, 122).”
From Unraveling a Multifactorial Late-Onset Disease: From Genetic Susceptibility to Disease Mechanisms for Age-Related Macular Degeneration (2009) · cites this paper as [122]
LOC387715(ARMS2)/HtrA1, located on chromosome 10q26, has been found to be associated with advanced age-related macular degeneration.
“A second important locus LOC387715(ARMS2)/HtrA1 (high temperature requirement factor A-1), located on chromosome 10q26, has also been found to be associated with advanced age-related macular degeneration.60,68–71”
From Age-related macular degeneration (2008) · cites this paper as [60]
Several studies have found an association between advanced age-related macular degeneration and complement factor H.
“More recently, several studies have found an association between advanced age-related macular degeneration and complement factor H, an integral component of the alternative pathway of complement activation.54–65”
From Age-related macular degeneration (2008) · cites this paper as [60]
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- Authors
- Rivera, A., Fisher, S. A., Fritsche, L. G., Keilhauer, C. N., Lichtner, P., Meitinger, T., & Weber, B. H. F.
- Affiliations
- University of Regensburg (DE)
- King's College London (GB)
- University of Würzburg (DE)
- Helmholtz Munich (DE)
- Corresponding author
- Rivera, Andrea
- ORCID
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2005-09-20
- Volume
- 14
- Issue
- 21
- Pages
- 3227-3236
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2140653050
- Cited by
- 788
- References
- 46
- Citations by year
- 2026: 6 · 2025: 7 · 2024: 13 · 2023: 12 · 2022: 20 · 2021: 29 · 2020: 24 · 2019: 12 · 2018: 15 · 2017: 18 · 2016: 19 · 2015: 33 · 2014: 60 · 2013: 59 · 2012: 70
- FWCI
- 53.81
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Molecular Genetics (publishedVersion)
- PubMed (publishedVersion)
- Research Portal (King's College London) (submittedVersion)
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich) (submittedVersion)
- Site cant be reached (submittedVersion)
- Funders
- Deutsche Forschungsgemeinschaft
- Bundesministerium für Bildung und Forschung
- Bayerische Forschungsstiftung
- Topics
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- age-related macular degeneration, LOC387715, complement factor H, genetic susceptibility, single nucleotide polymorphisms, 1q32, 10q26, linkage disequilibrium, additive hazards model
- MeSH terms
- Base Sequence, Chromosomes, Human, Pair 10, Gene Frequency, Genotype, Germany, Haplotypes, Humans, Macular Degeneration, Membrane Proteins, Molecular Sequence Data, Placenta, Proteins, Retina, Linkage Disequilibrium, Odds Ratio, Complement Factor H, Sequence Analysis, DNA, DNA Primers, Genetic Predisposition to Disease, Reverse Transcriptase Polymerase Chain Reaction, Polymorphism, Single Nucleotide, Intracellular Signaling Peptides and Proteins
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