Key result
Low-frequency PELI3 variant A307V linked to ~86% lower risk of advanced AMD.
Why the study?
Substantial heritability of advanced age-related macular degeneration remains unexplained despite discovery of over 20 common frequency alleles by genome-wide association studies.
Are specific coding variants in CFH, PELI3, and near CTRB1 associated with the risk of advanced age-related macular degeneration?
Population
4,332 advanced AMD cases and 25,268 controls of European ancestry from three populations
Comparison
Protective coding variants in CFH, PELI3, and variant near CTRB1 vs non-carriers
Design
Meta-analysis of genotyping using Illumina Infinium HumanExome BeadChip
Authors
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Supports PELI3 as a novel protective locus in advanced AMD; extends genetic insights into innate immunity but should not yet alter clinical practice.
Case-Control (n=29,600)
Yes
Are specific coding variants in CFH, PELI3, and near CTRB1 associated with the risk of advanced age-related macular degeneration?
Odds Ratio: 0.14
p-value: p=4.3x10-10
Identification of protective coding variants in PELI3, CFH, and near CTRB1 expands the understanding of genetic factors and potential pathways (HDL and innate immunity) involved in age-related macular degeneration.
Wagner et al. (2015) conducted a case-control in Age-related macular degeneration (n=29,600). PELI3 A307V variant vs. Non-carriers / Reference allele was evaluated on Risk of advanced age-related macular degeneration (OR 0.14, p=4.3x10-10). The low frequency, non-synonymous variant A307V in PELI3 is significantly associated with a decreased risk of advanced age-related macular degeneration (OR 0.14, P=4.3x10-10).
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