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Article

Analysis of copy number variation at DMBT1 and age-related macular degeneration.

BMC medical genetics - 15 Jul 2016

Polley Shamik, Cipriani Valentina, Khan Jane C, Shahid Humma, Moore Anthony T, Yates John R W, Hollox Edward J

Abstract excerpt

BACKGROUND: DMBT1 is a gene that shows extensive copy number variation (CNV) that alters the number of bacteria-binding domains in the protein and has been shown to activate the complement pathway. It lies next to the ARMS2/HTRA1 genes in a region of chromosome 10q26, where single nucleotide variants have been strongly associated with age-related macular degeneration (AMD), the commonest cause of blindness in...

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Source

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Identifiers

PMID: 27416785
DOI: 10.1186/s12881-016-0311-5
PMCID: PMC4946147

Genes

DMBT1
ARMS2
HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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