Influence of CFH, HTRA1 and ARMS2 haplotype polymorphisms in the development of age-related macular disease

Archivos de la Sociedad Española de Oftalmología
F Cruz-GonzálezR González-Sarmiento


To demonstrate genetic influence on the onset of age-related macular disease (AMD), analyzing genotype distribution of haplotypes, including polymorphisms of genes with proved relationships with AMD risk (CFH, ARMS2, HTRA1) in patients with AMD and in healthy people. We took 101 consecutive patients with an AMD diagnosis following Wisconsin international classification. For our control group, we took 91 patients without AMD or any significant macular changes. We analyzed CFH rs1410996, ARMS2rs 10940923 polymorphisms using real time PCR with taqman probes, and HTRA1 -625 using restriction endonuclease digestion. We studied haplotypes by simultaneously combining genotypes which, in previous studies, had been shown to have relationship with AMD (CFH, ARMS2, HTRA1) in patients with AMD and healthy people. There was a statistically significant higher proportion of patients with AMD simultaneously expressing CFH GG (rs1410996) and ARMS2 TT (rs10940923) (P=.037; OR: 7.742 [1.010-63.156]); ARMS2 TT (rs10940923) and HTRA1-625 TT (P=.001; OR: 9.006 [2.019-40.168]) and CFH GG (rs1410996), ARMS2 TT (rs1040923) and HTRA1 -625 GG (P=.043; OR: 6.702 [1.003-55.565]) genotypes. Haplotypes which combine "risk genotypes", demonstrated in previous...Continue Reading


Jul 1, 1991·Ophthalmology·R KleinL Hubbard
Aug 1, 1991·Ophthalmology·R KleinD L De Mets
Jan 1, 1972·Transactions of the American Ophthalmological Society·J D Gass
Mar 6, 1999·American Journal of Epidemiology·W G ChristenC H Hennekens
Feb 9, 2000·Journal of Medical Genetics·J R Yates, A T Moore
Aug 6, 2003·American Journal of Human Genetics·Jacek MajewskiMichael L Klein
Mar 12, 2004·American Journal of Ophthalmology·Frank G HolzAlan C Bird
Apr 14, 2004·Archives of Ophthalmology·Marco A Zarbin
Mar 12, 2005·Science·Jonathan L HainesMargaret A Pericak-Vance
Mar 12, 2005·Science·Albert O EdwardsLindsay A Farrer
May 5, 2005·Proceedings of the National Academy of Sciences of the United States of America·Gregory S HagemanRando Allikmets
Aug 5, 2005·American Journal of Human Genetics·Johanna JakobsdottirMichael B Gorin
Oct 11, 2005·Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft·P Charbel IssaC Kurts
Nov 23, 2005·PLoS Medicine·Kristinn P MagnussonJeffrey R Gulcher
Feb 28, 2006·Survey of Ophthalmology·Larry A DonosoGregory Hageman
Apr 1, 2006·Seminars in Thrombosis and Hemostasis·Peter F ZipfelChristine Skerka
Apr 28, 2006·American Journal of Human Genetics·Silke SchmidtMargaret A Pericak-Vance
Jul 5, 2006·Survey of Ophthalmology·Stephen HaddadJohanna M Seddon
Jul 20, 2006·JAMA : the Journal of the American Medical Association·Dominiek D G DesprietPaulus T V M de Jong
Sep 7, 2006·Ophthalmologica. Journal international d'ophtalmologie. International journal of ophthalmology. Zeitschrift für Augenheilkunde·Barkur S Shastry
Oct 6, 2006·The New England Journal of Medicine·Paulus T V M de Jong
Oct 21, 2006·Science·Andrew DewanJosephine Hoh
Jan 11, 2007·Archives of Ophthalmology·Margaret M DeAngelisThaddeus P Dryja
Sep 22, 2007·Proceedings of the National Academy of Sciences of the United States of America·Atsuhiro KandaAnand Swaroop
Feb 28, 2008·Retina·Jane-Ming LinSung-Huei Tseng
Mar 5, 2008·Investigative Ophthalmology & Visual Science·Pancy O S TamChi Pui Pang
May 31, 2008·Nature Genetics·Lars G FritscheBernhard H F Weber
Mar 4, 2009·Investigative Ophthalmology & Visual Science·Gaofeng WangMargaret A Pericak-Vance
Apr 21, 2009·Annals of Epidemiology·Na-Ping TangRong-Bin Yu

❮ Previous
Next ❯


❮ Previous
Next ❯

Related Concepts

Trending Feeds


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 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.


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.