期刊
MOLECULAR IMMUNOLOGY
卷 61, 期 2, 页码 118-125出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.molimm.2014.06.032
关键词
Age-related macular degeneration; Complement system; Alternative pathway; Genetic variants
资金
- Medical Research Council [MR/K004441/1, MR/K024418/1] Funding Source: researchfish
- Medical Research Council [MR/K004441/1, MR/K024418/1] Funding Source: Medline
- NEI NIH HHS [R01-EY11309, R01 EY011309] Funding Source: Medline
- NHLBI NIH HHS [U54 HL112303] Funding Source: Medline
- NIAID NIH HHS [R01 AI041592] Funding Source: Medline
- NIAMS NIH HHS [P30AR48335, P30 AR048335] Funding Source: Medline
- NIGMS NIH HHS [R01 GM099111] Funding Source: Medline
- MRC [MR/K024418/1, MR/K004441/1] Funding Source: UKRI
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. (C) 2014 Elsevier Ltd. All rights reserved.
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