TY - JOUR
T1 - Genetic variants in the complement system predisposing to age-related macular degeneration
T2 - A review
AU - Schramm, Elizabeth C.
AU - Clark, Simon J.
AU - Triebwasser, Michael P.
AU - Raychaudhuri, Soumya
AU - Seddon, Johanna M.
AU - Atkinson, John P.
N1 - Funding Information:
This work was supported by US National Institutes of Health (NIH) grants ( R01 AI041592 and P30AR48335 to JPA and R01-EY11309 to JMS); The Edward N and Della L Thome Memorial Foundation (JPA); Massachusetts Lions Eye Research Fund, Inc. (JMS); the Foundation Fighting Blindness (JMS); the Macular Vision Research Foundation (JMS); Research to Prevent Blindness Challenge Grant to the New England Eye Center, Department of Ophthalmology, Tufts University School of Medicine; American Macular Degeneration Foundation (JMS) and the Macular Degeneration Research Fund of the Ophthalmic Epidemiology and Genetics Service, New England Eye Center, Tufts Medical Center, Tufts University School of Medicine. SJC is supported by MRC Career Development Fellowship ( MR/K024418/1 ). MPT was supported by the F30 National Heart Lung and Blood Institute Ruth L Kirschstein National Research Award.
PY - 2014/10
Y1 - 2014/10
N2 - Age-related macular degeneration (AMD) is a major cause of visual impairment in the western world. It is characterized by the presence of lipoproteinaceous deposits (drusen) in the inner layers of the retina. Immunohistochemistry studies identified deposition of complement proteins in the drusen as well as in the choroid. In the last decade, genetic studies have linked both common and rare variants in genes of the complement system to increased risk of development of AMD. Here, we review the variants described to date and discuss the functional implications of dysregulation of the alternative pathway of complement in AMD.
AB - Age-related macular degeneration (AMD) is a major cause of visual impairment in the western world. It is characterized by the presence of lipoproteinaceous deposits (drusen) in the inner layers of the retina. Immunohistochemistry studies identified deposition of complement proteins in the drusen as well as in the choroid. In the last decade, genetic studies have linked both common and rare variants in genes of the complement system to increased risk of development of AMD. Here, we review the variants described to date and discuss the functional implications of dysregulation of the alternative pathway of complement in AMD.
KW - Age-related macular degeneration
KW - Alternative pathway
KW - Complement system
KW - Genetic variants
UR - http://www.scopus.com/inward/record.url?scp=84907598829&partnerID=8YFLogxK
U2 - 10.1016/j.molimm.2014.06.032
DO - 10.1016/j.molimm.2014.06.032
M3 - Review article
C2 - 25034031
AN - SCOPUS:84907598829
SN - 0161-5890
VL - 61
SP - 118
EP - 125
JO - Molecular Immunology
JF - Molecular Immunology
IS - 2
ER -