Uncovering genetic and non-genetic biomarkers specific for exudative age-related macular degeneration: significant association of twelve variants

Oncotarget
Raffaella CascellaEmiliano Giardina

Abstract

Age-related Macular Degeneration (AMD) represents one of the most sight-threatening diseases in developed countries that substantially impacts the patients' lifestyle by compromising everyday activities, such as reading and driving. In this context, understanding the prevalence, burden, and population-specific risk/protective factors of AMD is essential for adequate health care planning and provision. Our work aimed to characterize exudative AMD in Italian population and to identify the susceptibility/protective factors (genetic variants, age, sex, smoking and dietary habits) which are specific for the onset of disease. Our study involved a cohort of 1976 subjects, including 976 patients affected with exudative AMD and 1000 control subjects. In particular, the sample cohort has been subjected to a large genotyping analysis of 20 genetic variants which are known to be associated with AMD among European and Asiatic populations. This analysis revealed that 8 genetic variants (CFH, ARMS2, IL-8, TIMP3, SLC16A8, RAD51B, VEGFAandCOL8A1) were significantly associated with AMD susceptibility. Successively, we performed a multivariate analysis, considering both genetic and non-genetic data available for our sample cohort. The multivariat...Continue Reading

References

Jun 9, 2004·The Journal of Experimental Medicine·Tetiana A ZaichukOlga V Volpert
May 31, 2008·Nature Genetics·Lars G FritscheBernhard H F Weber
Nov 6, 2008·Clinical Interventions in Aging·Rita EhrlichBarbara Wirostko
Jan 10, 2009·Nature Protocols·Da Wei HuangRichard A Lempicki
Mar 3, 2010·PLoS Genetics·Naomi R WrayPeter M Visscher
Apr 14, 2010·Proceedings of the National Academy of Sciences of the United States of America·Wei ChenAnand Swaroop
Nov 4, 2010·Molecular Interventions·Yuhong ChenKang Zhang
Jul 26, 2011·American Journal of Ophthalmology·Tiziana LepreGiuseppe Novelli
Mar 5, 2013·Nature Genetics·Lars G FritscheUNKNOWN AMD Gene Consortium
May 25, 2013·Nucleic Acids Research·Jing WangBing Zhang
Aug 21, 2013·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Fanxing ZengHaifeng Xu
Jan 1, 2014·Progress in Retinal and Eye Research·Lucia Sobrin, Johanna M Seddon
Jan 28, 2014·Nutrition Research·Stefania ZampattiEmiliano Giardina
Apr 30, 2014·Annual Review of Genomics and Human Genetics·Lars G FritscheAnand Swaroop
Jul 19, 2014·Molecular Immunology·Elizabeth C SchrammJohn P Atkinson
Aug 12, 2014·Biochemical and Biophysical Research Communications·Kuniko Horie-Inoue, Satoshi Inoue
Sep 23, 2014·Eye·M Gemenetzi, A J Lotery
Dec 6, 2014·Journal of Ophthalmology·Raffaella CascellaEmiliano Giardina
Jan 9, 2016·Immunobiology·Menno van Lookeren CampagneBrian L Yaspan
May 10, 2016·Progress in Retinal and Eye Research·Nathan G LambertBalamurali K Ambati

❮ Previous
Next ❯

Citations

Jan 9, 2019·Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Für Klinische Und Experimentelle Ophthalmologie·Fabrizio ScottiGianpaolo Zerbini
Apr 3, 2019·International Journal of Molecular Sciences·Claudia StrafellaRaffaella Cascella
Sep 8, 2018·Frontiers in Neurology·Claudia StrafellaEmiliano Giardina
Aug 31, 2019·Case Reports in Ophthalmological Medicine·G AloeF Ricci
Jun 2, 2020·World Journal of Diabetes·Valerio CaputoRaffaella Cascella
Jul 8, 2020·BMC Medical Genomics·Andrea R WaksmunskiJessica N Cooke Bailey
Nov 1, 2020·Journal of Cellular and Molecular Medicine·Valerio CaputoRaffaella Cascella
Oct 22, 2019·Journal of Cellular and Molecular Medicine·Janusz BlasiakKai Kaarniranta
Mar 17, 2021·Cell Death and Differentiation·Anthea Di RitaFlavie Strappazzon
Jan 1, 2020·Expert Review of Ophthalmology·Maria Cristina Kenney, Sonali Nashine
Feb 12, 2020·Molecular Therapy. Nucleic Acids·Xue ChenQinghuai Liu

❮ Previous
Next ❯

Methods Mentioned

BETA
genotyping
PCR

Software Mentioned

DAVID Bioinformatic Database
SPSS
Pathway Commons Analysis Target
GEne SeT AnaLysis Toolkit
Sequence Detection System
Pathway Commons
GO

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.