Protective coding variants inCFHandPELI3and a variant nearCTRB1are associated with age-related macular degeneration† Article Swipe
Yi Yu
,
Erin K. Wagner
,
Eric H. Souied
,
Sanna Seitsonen
,
Ilkka Immonen
,
Paavo Häppölä
,
Soumya Raychaudhuri
,
Mark J. Daly
,
Johanna M. Seddon
·
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1093/hmg/ddw336
YOU?
·
· 2016
· Open Access
·
· DOI: https://doi.org/10.1093/hmg/ddw336
Although numerous common age-related macular degeneration (AMD) alleles have been discovered using genome-wide association studies, substantial disease heritability remains unexplained. We sought to identify additional common and rare variants associated with advanced AMD. A total of 4,332 cases and 25,268 controls of European ancestry from three different populations were genotyped using the Illumina Infinium HumanExome BeadChip. We performed meta-analyses to identify associations with common variants, and single variant and gene-based burden tests to identify rare variants. Two protective, low-frequency, non-synonymous variants were significantly associated with a decrease in AMD risk: A307V in PELI3 (odds ratio [OR] = 0.14, P = 4.3 × 10-10) and N1050Y in CFH (OR = 0.76, P = 6.2 × 10-12). The new variants have a large effect size, similar to some rare mutations we reported previously in a targeted sequencing study, which remain significant in this analysis: CFH R1210C (OR = 18.82, P = 3.5 × 10-07), C3 K155Q (OR = 3.27, P = 1.5 × 10-10) and C9 P167S (OR = 2.04, P = 2.8 × 10-07). We also identified a strong protective signal for a common variant (rs8056814) near CTRB1 associated with a decrease in AMD risk (logistic regression: OR = 0.71, P = 1.8 × 10-07). Suggestive protective loci were identified in the COL4A3 and APOH genes. Our results support the involvement of common and low-frequency protective variants in this vision-threatening condition. This study expands the roles of the innate immune pathway as well as the extracellular matrix and high-density lipoprotein pathways in the aetiology of AMD.
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Metadata
- Type
- review
- Language
- en
- Landing Page
- https://doi.org/10.1093/hmg/ddw336
- https://academic.oup.com/hmg/article-pdf/25/23/5276/25420497/ddw336.pdf
- OA Status
- bronze
- Cited By
- 20
- References
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- Related Works
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- OpenAlex ID
- https://openalex.org/W2566517477
All OpenAlex metadata
Raw OpenAlex JSON
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https://openalex.org/W2566517477Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1093/hmg/ddw336Digital Object Identifier
- Title
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Protective coding variants inCFHandPELI3and a variant nearCTRB1are associated with age-related macular degeneration†Work title
- Type
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reviewOpenAlex work type
- Language
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enPrimary language
- Publication year
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2016Year of publication
- Publication date
-
2016-10-21Full publication date if available
- Authors
-
Yi Yu, Erin K. Wagner, Eric H. Souied, Sanna Seitsonen, Ilkka Immonen, Paavo Häppölä, Soumya Raychaudhuri, Mark J. Daly, Johanna M. SeddonList of authors in order
- Landing page
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https://doi.org/10.1093/hmg/ddw336Publisher landing page
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https://academic.oup.com/hmg/article-pdf/25/23/5276/25420497/ddw336.pdfDirect link to full text PDF
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YesWhether a free full text is available
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bronzeOpen access status per OpenAlex
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https://academic.oup.com/hmg/article-pdf/25/23/5276/25420497/ddw336.pdfDirect OA link when available
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Biology, Macular degeneration, Genetics, Ophthalmology, MedicineTop concepts (fields/topics) attached by OpenAlex
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20Total citation count in OpenAlex
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2025: 1, 2024: 2, 2023: 1, 2022: 2, 2021: 2Per-year citation counts (last 5 years)
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70Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.0.76, | 109 |
| abstract_inverted_index.2.04, | 167 |
| abstract_inverted_index.3.27, | 156 |
| abstract_inverted_index.4,332 | 36 |
| abstract_inverted_index.A307V | 90 |
| abstract_inverted_index.CTRB1 | 186 |
| abstract_inverted_index.K155Q | 153 |
| abstract_inverted_index.P167S | 164 |
| abstract_inverted_index.PELI3 | 92 |
| abstract_inverted_index.cases | 37 |
| abstract_inverted_index.large | 120 |
| abstract_inverted_index.ratio | 94 |
| abstract_inverted_index.risk: | 89 |
| abstract_inverted_index.roles | 234 |
| abstract_inverted_index.size, | 122 |
| abstract_inverted_index.study | 231 |
| abstract_inverted_index.tests | 71 |
| abstract_inverted_index.three | 45 |
| abstract_inverted_index.total | 34 |
| abstract_inverted_index.using | 11, 50 |
| abstract_inverted_index.which | 136 |
| abstract_inverted_index.10-10) | 102, 161 |
| abstract_inverted_index.18.82, | 146 |
| abstract_inverted_index.25,268 | 39 |
| abstract_inverted_index.COL4A3 | 211 |
| abstract_inverted_index.N1050Y | 104 |
| abstract_inverted_index.R1210C | 143 |
| abstract_inverted_index.burden | 70 |
| abstract_inverted_index.common | 2, 25, 63, 182, 221 |
| abstract_inverted_index.effect | 121 |
| abstract_inverted_index.genes. | 214 |
| abstract_inverted_index.immune | 238 |
| abstract_inverted_index.innate | 237 |
| abstract_inverted_index.matrix | 245 |
| abstract_inverted_index.remain | 137 |
| abstract_inverted_index.signal | 179 |
| abstract_inverted_index.single | 66 |
| abstract_inverted_index.sought | 21 |
| abstract_inverted_index.strong | 177 |
| abstract_inverted_index.study, | 135 |
| abstract_inverted_index.10-07), | 151 |
| abstract_inverted_index.10-07). | 172, 203 |
| abstract_inverted_index.10-12). | 114 |
| abstract_inverted_index.alleles | 7 |
| abstract_inverted_index.disease | 16 |
| abstract_inverted_index.expands | 232 |
| abstract_inverted_index.macular | 4 |
| abstract_inverted_index.pathway | 239 |
| abstract_inverted_index.remains | 18 |
| abstract_inverted_index.results | 216 |
| abstract_inverted_index.similar | 123 |
| abstract_inverted_index.support | 217 |
| abstract_inverted_index.variant | 67, 183 |
| abstract_inverted_index.Although | 0 |
| abstract_inverted_index.European | 42 |
| abstract_inverted_index.Illumina | 52 |
| abstract_inverted_index.Infinium | 53 |
| abstract_inverted_index.advanced | 31 |
| abstract_inverted_index.ancestry | 43 |
| abstract_inverted_index.controls | 40 |
| abstract_inverted_index.decrease | 86, 190 |
| abstract_inverted_index.identify | 23, 60, 73 |
| abstract_inverted_index.numerous | 1 |
| abstract_inverted_index.pathways | 249 |
| abstract_inverted_index.reported | 129 |
| abstract_inverted_index.studies, | 14 |
| abstract_inverted_index.targeted | 133 |
| abstract_inverted_index.variants | 28, 80, 117, 225 |
| abstract_inverted_index.(logistic | 194 |
| abstract_inverted_index.BeadChip. | 55 |
| abstract_inverted_index.aetiology | 252 |
| abstract_inverted_index.analysis: | 141 |
| abstract_inverted_index.different | 46 |
| abstract_inverted_index.genotyped | 49 |
| abstract_inverted_index.mutations | 127 |
| abstract_inverted_index.performed | 57 |
| abstract_inverted_index.variants, | 64 |
| abstract_inverted_index.variants. | 75 |
| abstract_inverted_index.HumanExome | 54 |
| abstract_inverted_index.Suggestive | 204 |
| abstract_inverted_index.additional | 24 |
| abstract_inverted_index.associated | 29, 83, 187 |
| abstract_inverted_index.condition. | 229 |
| abstract_inverted_index.discovered | 10 |
| abstract_inverted_index.gene-based | 69 |
| abstract_inverted_index.identified | 175, 208 |
| abstract_inverted_index.previously | 130 |
| abstract_inverted_index.protective | 178, 205, 224 |
| abstract_inverted_index.sequencing | 134 |
| abstract_inverted_index.(rs8056814) | 184 |
| abstract_inverted_index.age-related | 3 |
| abstract_inverted_index.association | 13 |
| abstract_inverted_index.genome-wide | 12 |
| abstract_inverted_index.involvement | 219 |
| abstract_inverted_index.lipoprotein | 248 |
| abstract_inverted_index.populations | 47 |
| abstract_inverted_index.protective, | 77 |
| abstract_inverted_index.regression: | 195 |
| abstract_inverted_index.significant | 138 |
| abstract_inverted_index.substantial | 15 |
| abstract_inverted_index.associations | 61 |
| abstract_inverted_index.degeneration | 5 |
| abstract_inverted_index.heritability | 17 |
| abstract_inverted_index.high-density | 247 |
| abstract_inverted_index.unexplained. | 19 |
| abstract_inverted_index.extracellular | 244 |
| abstract_inverted_index.low-frequency | 223 |
| abstract_inverted_index.meta-analyses | 58 |
| abstract_inverted_index.significantly | 82 |
| abstract_inverted_index.low-frequency, | 78 |
| abstract_inverted_index.non-synonymous | 79 |
| abstract_inverted_index.vision-threatening | 228 |
| cited_by_percentile_year.max | 98 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5104928419 |
| countries_distinct_count | 4 |
| institutions_distinct_count | 9 |
| corresponding_institution_ids | https://openalex.org/I121934306, https://openalex.org/I1290900354 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.5299999713897705 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.87625912 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |