Interactions among different genetic loci in age-related macular degeneration

Ophthalmic Genetics
Mortaza BonyadiMasoud Soheilian

Abstract

To evaluate the possible synergistic effect of at risk genotypes of ARMS2/LOC387715 (A69S), DNA repair SMUG1 rs3087404, CCL2-2518, C3 (R102G), CFH Y402H, complement factor B (L9H), and complement factor I (CFI) (G119R) in advanced age-related macular degeneration compared to those of healthy controls. Elucidation of synergistic effects between different genetic loci may clarify their pathogenetic pathways. We calculated relative excess risk due to interaction (RERI), attributable proportion due to interaction (AP), and synergy index (S) to estimate the additive or supra-additive effects of the mentioned genotypes. ARMS2-CFH [RERI = 4.78 (95% CI 2.17-10.61), AP = 0.65 (95% CI 0.33-0.83), S = 4.11 (95% CI 1.40-12.06)], and CFH-C3 combinations [RERI = 2.71 (95% CI 0.04-7.01) AP = 0.47 (95% CI -0.03-0.7) S = 2.30 (95%CI 0.97-5.45)] have the most significant levels of synergism and C3-CFI combination [RERI = -1.65 (95%CI -4.34-0.06), AP = -0.92(95%CI -3.09 - -0.09), S = 0.32 (95%CI 0.09 = 1.20)] has the most significant level of antagonism. Among different genotype combinations ARMS2-CFH and CFH-C3 combinations have the most significant levels of synergism and C3-CFI combination has the most significant level of antagonism in AMD pa...Continue Reading

References

Mar 12, 2005·Science·Robert J KleinJosephine Hoh
Aug 27, 2005·European Journal of Epidemiology·Tomas AnderssonAnders Ahlbom
Jul 20, 2007·The New England Journal of Medicine·John R W YatesUNKNOWN Genetic Factors in AMD Study Group
Oct 27, 2007·Molecular Immunology·L A TrouwP Gasque
May 31, 2008·American Journal of Epidemiology·Guang Yong Zou
Dec 15, 2010·Human Heredity·Xuefeng WangXiaofeng Zhu
Sep 17, 2015·Kidney International·Véronique Frémeaux-Bacchi, Christophe M Legendre
Oct 2, 2015·Journal of Ophthalmic & Vision Research·Mohammad Hossein Jabbarpoor BonyadiZakieh Yagubi

❮ Previous
Next ❯

Citations


❮ Previous
Next ❯

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.