Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease caused by the combination of genetic predisposition and environmental factors. Using genome linkage scan and association studies, multiple potentially causative genes have been identified. In AMD, there are two phenotypes, atrophic/ dry and neovascular/ wet. The former is characterized by the geographic atrophy due to death of retinal pigment epithelium, and the latter is usually characterized by the abnormal growth of new blood vessels under the macula, which causes severe loss of vision. While wet AMD can be treated by the inhibition of vascular endothelial growth factor or photodynamic therapy, so far there are no available treatments for dry AMD.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B75 Macular disorders
H00821 Age-related macular degeneration
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H00821 Age-related macular degeneration
nt06527 Necroptosis
H00821 Age-related macular degeneration
Immune system
nt06513 Complement cascade
H00821 Age-related macular degeneration
nt06517 TLR signaling
H00821 Age-related macular degeneration
Schultz DW, Klein ML, Humpert AJ, Luzier CW, Persun V, Schain M, Mahan A, Runckel C, Cassera M, Vittal V, Doyle TM, Martin TM, Weleber RG, Francis PJ, Acott TS
Title
Analysis of the ARMD1 locus: evidence that a mutation in HEMICENTIN-1 is associated with age-related macular degeneration in a large family.
Rivera A, Fisher SA, Fritsche LG, Keilhauer CN, Lichtner P, Meitinger T, Weber BH
Title
Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.
Zareparsi S, Buraczynska M, Branham KE, Shah S, Eng D, Li M, Pawar H, Yashar BM, Moroi SE, Lichter PR, Petty HR, Richards JE, Abecasis GR, Elner VM, Swaroop A
Title
Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.
Seddon JM, Yu Y, Miller EC, Reynolds R, Tan PL, Gowrisankar S, Goldstein JI, Triebwasser M, Anderson HE, Zerbib J, Kavanagh D, Souied E, Katsanis N, Daly MJ, Atkinson JP, Raychaudhuri S
Title
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the vessel wall. A variety of environmental and genetic risk factors are associated with CAD, including hypercholesterolemia, hypertension, obesity, diabetes, and a family history of early CAD. It has been reported that an autosomal dominant form of CAD is caused by the mutation in transcription factor MEF2A. A missense mutation in LRP6, which encodes a co-receptor in the Wnt signaling pathway, has also been identified.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
11 Diseases of the circulatory system
Diseases of coronary artery
BA8Z Diseases of coronary artery, unspecified
H01742 Coronary artery disease
Pathway-based classification of diseases [BR:br08402]
Cellular process
nt06535 Efferocytosis
H01742 Coronary artery disease
Wang L, Hauser ER, Shah SH, Pericak-Vance MA, Haynes C, Crosslin D, Harris M, Nelson S, Hale AB, Granger CB, Haines JL, Jones CJ, Crossman D, Seo D, Gregory SG, Kraus WE, Goldschmidt-Clermont PJ, Vance JM
Title
Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.
Ye S, Eriksson P, Hamsten A, Kurkinen M, Humphries SE, Henney AM
Title
Progression of coronary atherosclerosis is associated with a common genetic variant of the human stromelysin-1 promoter which results in reduced gene expression.
