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Article

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.

PLoS genetics - 5 Feb 2010

Yang Zhenglin, Tong Zongzhong, Chen Yuhong, Zeng Jiexi, Lu Fang, Sun Xufang, Zhao Chao, Wang Kevin, Davey Lisa, Chen Haoyu, London Nyall, Muramatsu Daisuke, Salasar Francesca, Carmona Ruben, Kasuga Daniel, Wang Xiaolei, Bedell Matthew, Dixie Manjuxia, Zhao Peiquan, Yang Ruifu, Gibbs Daniel, Liu Xiaoqi, Li Yan, Li Cai, Li Yuanfeng, Campochiaro Betsy, Constantine Ryan, Zack Donald J, Campochiaro Peter, Fu Yinbin, Li Dean Y, Katsanis Nicholas, Zhang Kang

Abstract excerpt

A common haplotype on 10q26 influences the risk of age-related macular degeneration (AMD) and encompasses two genes, LOC387715 and HTRA1. Recent data have suggested that loss of LOC387715, mediated by an insertion/deletion (in/del) that destabilizes its message, is causally related with the disor...

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Identifiers

PMID: 20140183
DOI: 10.1371/journal.pgen.1000836
PMCID: PMC2816682

Genes

HTRA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20140183-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Click a neighbor to travelStep 1 · 12 closest

Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.PMID 20140183Read ↗

Variants in the 10q26 gene cluster (LOC387715 and HTRA1) exhibit enhanced risk of age-related macular degeneration along with CFH in Indian patients.Semantic proximity Read ↗

The LOC387715 polymorphism and age-related macular degeneration: replication in three case-control samples.Semantic proximity Read ↗

Further mapping of 10q26 supports strong association of HTRA1 polymorphisms with age-related macular degeneration.Semantic proximity Read ↗

An intergenic region between the tagSNP rs3793917 and rs11200638 in the HTRA1 gene indicates association with age-related macular degeneration.Semantic proximity Read ↗

A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration.Semantic proximity Read ↗

Protective effects of an HTRA1 insertion-deletion variant against age-related macular degeneration in the Chinese populations.Semantic proximity Read ↗

Phenotype analysis of patients with the risk variant LOC387715 (A69S) in age-related macular degeneration.Semantic proximity Read ↗

Transcriptome-wide association implicates <i>HTRA1-AS1</i> in age-related macular degeneration riskSemantic proximity Read ↗

Ongoing controversies and recent insights of the ARMS2-HTRA1 locus in age-related macular degenerationSemantic proximity Read ↗

The LOC387715 gene, smoking, body mass index, environmental associations with advanced age-related macular degeneration.Semantic proximity Read ↗

Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.Semantic proximity Read ↗

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.Semantic proximity Read ↗

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