A Candidate Gene Association Study Identifies DAPL1 as a Female-Specific Susceptibility Locus for Age-Related Macular Degeneration (AMD)

Graßmann, Felix; Friedrich, Ulrike; Fauser, Sascha; Schick, Tina; Milenkovic, Andrea; Schulz, Heidi L.; Strachwitz, Claudia N. von; Bettecken, Thomas; Lichtner, Peter; Meitinger, Thomas; Arend, Nicole; Wolf, Armin; Haritoglou, Christos; Rudolph, Guenther; Chakravarthy, Usha; Silvestri, Guido; McKay, Gareth J.; Freitag‐Wolf, Sandra; Krawczak, Michael; Rjh, Smith; Merriam, John C.; Merriam, Joanna E.; Allikmets, Rando; Heid, Iris M.; Weber, Bernhard H. F.

doi:10.1007/s12017-015-8342-1

Cited by 32 publications

(33 citation statements)

References 26 publications

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“…Certain AMD risk SNPs may also be gender specific (Grassmann et al, 2015). These results suggest that women may be at a higher risk of developing the disease, but more epidemiological studies are needed to draw definitive conclusions on the association between gender and AMD.…”

Section: Biomarkers Of Susceptibilitymentioning

confidence: 99%

Risk factors and biomarkers of age-related macular degeneration

Lambert

Elshelmani

Singh

et al. 2016

Progress in Retinal and Eye Research

273

223

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A biomarker can be a substance or structure measured in body parts, fluids or products that can affect or predict disease incidence. As age-related macular degeneration (AMD) is the leading cause of blindness in the developed world, much research and effort has been invested in the identification of different biomarkers to predict disease incidence, identify at risk individuals, elucidate causative pathophysiological etiologies, guide screening, monitoring and treatment parameters, and predict disease outcomes. To date, a host of genetic, environmental, proteomic, and cellular targets have been identified as both risk factors and potential biomarkers for AMD. Despite this, their use has been confined to research settings and has not yet crossed into the clinical arena. A greater understanding of these factors and their use as potential biomarkers for AMD can guide future research and clinical practice. This article will discuss known risk factors and novel, potential biomarkers of AMD in addition to their application in both academic and clinical settings.

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Section: Biomarkers Of Susceptibilitymentioning

confidence: 99%

Risk factors and biomarkers of age-related macular degeneration

Lambert

Elshelmani

Singh

et al. 2016

Progress in Retinal and Eye Research

273

223

View full text Add to dashboard Cite

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“…The death-associated protein-like 1 (DAPL1) protein, encoded by DAPL1 gene, was reported to be associated with the pathogenesis of age-related macular degeneration (AMD) [2] and the regulation of cell proliferation in the retinal pigment epithelium (RPE) [3,4]. A whole genome expression profiling data suggested that DAPL1 gene may be linked to the chewing-tobacco-associated oral cancer [5].…”

mentioning

confidence: 99%

WITHDRAWN: Identification of death-associated protein-like 1 (DAPL1) as a novel prognostic biomarker of breast cancer

Zhang

Liang

2020

Preprint

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Background: It is meaningful to identify the potential clinical prognosis-associated oncogenes for cases with breast cancer, considering the complicated pathogenesis of breast cancer.Methods: We first utilized the bioinformatics approach to investigate the role of the DAPL1 (death-associated protein-like 1) in breast cancer, based on the available datasets of TCGA and GEO.Results: DAPL1 is lowly expressed in breast cancer tissues compared with the normal tissues. For the breast cancer cases of the TCGA-BRCA cohort, we observed a correlation between lowly expressed DAPL1 gene and poor clinical prognosis of overall survival ( P =0.0028). Based on the survival data of GEO, the low DAPL1 expression was associated with a poor prognosis of distant metastasis free survival ( P =0.0023), and relapse free survival ( P =0.0065). DAPL1 expression was linked to the mutation status or copy number variation o f several genes, such as MAP3K1 , NUP98 , and CCDC59. The infiltration level of immune cells (e.g., M1 macrophage, Follicular B helper T cells, etc.) may be involved in the etiology of breast cancer. Based on the DAPL1 -correlated genes, GSEA, GO, and KEGG analysis data indicated the association between DAPL1 expression and a series of biological issues, such as DNA packaging complex, DNA repair complex, nucleotide excision repair, ubiquitin-like protein binding, and ubiquitin proteasome pathway. We also identified several DAPL1 -associated phosphorylation kinases, such as MAPK, PRKACA, and GSK3B.Conclusions: DAPL1 gene is first identified as a prognosis biomarker of breast cancer, and the underlying molecular mechanism involves protein phosphorylation, immune cell infiltration, and DNA repair or protein ubiquitin-associated cellular pathways.

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“…X-linked inactivation in females appears to be one source of variability in IPSCs development (12,13). Also, at least one sex-specific susceptibility locus for AMD has been identified (14). Although Blenkinsop and coworkers (15) found that stem cell derived RPE essentially reflects the key features of native RPE, we recently also found that there's still considerable non-sex influenced whole genome variation between stem cell derived RPE and native RPE (16).…”

Section: 2mentioning

confidence: 72%