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Article

Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.

Human molecular genetics - 1 Jul 2014

Yang Jin, Li Yao, Chan Lawrence, Tsai Yi-Ting, Wu Wen-Hsuan, Nguyen Huy V, Hsu Chun-Wei, Li Xiaorong, Brown Lewis M, Egli Dieter, Sparrow Janet R, Tsang Stephen H

Abstract excerpt

While the past decade has seen great progress in mapping loci for common diseases, studying how these risk alleles lead to pathology remains a challenge. Age-related macular degeneration (AMD) affects 9 million older Americans, and is characterized by the loss of the retinal pigment epithelium (RPE). Although the closely linked genome-wide association studies ARMS2/HTRA1 genes, located at the chromosome 10q26...

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Identifiers

PMID: 24497574
DOI: 10.1093/hmg/ddu053
PMCID: PMC4049304

Genes

RPE
ARMS2
HTRA1
SOD2

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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Validation of genome-wide association study (GWAS)-identified disease risk alleles with patient-specific stem cell lines.PMID 24497574Read ↗

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