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Article

Joint Analysis of Nuclear and Mitochondrial Variants in Age-Related Macular Degeneration Identifies Novel Loci TRPM1 and ABHD2/RLBP1.

Investigative ophthalmology & visual science - 1 Aug 2017

Persad Patrice J, Heid Iris M, Weeks Daniel E, Baird Paul N, de Jong Eiko K, Haines Jonathan L, Pericak-Vance Margaret A, Scott William K

Abstract excerpt

Purpose: Presently, 52 independent nuclear single nucleotide polymorphisms (nSNPs) have been associated with age-related macular degeneration (AMD) but their effects do not explain all its variance. Genetic interactions between the nuclear and mitochondrial (mt) genome may unearth additional genetic loci previously unassociated with AMD risk. Methods: Joint effects of nSNPs and selected mtSNPs were analyzed by...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28813576
DOI: 10.1167/iovs.17-21734
PMCID: PMC5559178

Genes

TRPM1
ABHD2
RLBP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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