Two genetic pathways for age-related macular degeneration

被引：28

作者：

DeWan, Andrew ^{[1
]}

Bracken, Michael B. ^{[1
]}

Hoh, Josephine ^{[1
]}

机构：

[1] Yale Univ, Dept Epidemiol & Publ Hlth, New Haven, CT 06520 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2007年 / 17卷 / 03期

基金：

美国国家卫生研究院;

关键词：

D O I：

10.1016/j.gde.2007.04.004

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The discovery of strong associations of the His402 variant of complement factor H (CFH) and the change in the promoter region of HtrA serine peptidase 1 (HTRA1) with age-related macular degeneration (AMD) have altered our conception of the pathophysiology of this disease. The complement system has been placed at the center of a flurry of research interest, and a similar growth in attention to the serine proteases is not far behind. The specific role of these variants in causing AMD is unknown, but they will undoubtedly lead to a deeper understanding of the biological mechanisms and will point to new avenues for pharmacologic management. Furthermore, these variants will enable clinicians and investigators to identify people at high risk for this condition, thereby establishing the preconditions for preventing the disease.

引用

页码：228 / 233

页数：6

共 46 条

[1] RETRACTED: The structure of complement C3b provides insights into complement activation and regulation (Retracted article. See vol. 532,2016) [J].

Ajees, A. Abdul ;

Gunasekaran, K. ;

Volanakis, John E. ;

Narayana, Sthanam. V. L. ;

Kotwal, Girish J. ;

Krishna Murthy, H. M. .

NATURE, 2006, 444 (7116) :221-225

[2] The simple design of complement factor H: Looks can be deceiving [J].

Alexander, Jessy J. ;

Quigg, Richard J. .

MOLECULAR IMMUNOLOGY, 2007, 44 (1-3) :123-132

[3] Ranibizumab versus verteporfin for neovascular age-related macular degeneration [J].

Brown, David M. ;

Kaiser, Peter K. ;

Michels, Mark ;

Soubrane, Gisele ;

Heier, Jeffrey S. ;

Kim, Robert Y. ;

Sy, Judy P. ;

Schneider, Susan .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (14) :1432-1444

[4] The human complement factor H:: functional roles, genetic variations and disease associations [J].

de Córdoba, SR ;

Esparza-Gordillo, J ;

de Jorge, EG ;

Lopez-Trascasa, M ;

Sánchez-Corral, P .

MOLECULAR IMMUNOLOGY, 2004, 41 (04) :355-367

[5] Mechanisms of disease: Age-related macular degeneration [J].

de Jong, Paulus T. V. M. .

NEW ENGLAND JOURNAL OF MEDICINE, 2006, 355 (14) :1474-1485

[6] HTRA1 promoter polymorphism in wet age-related macular degeneration [J].

DeWan, Andrew ;

Liu, Mugen ;

Hartman, Stephen ;

Zhang, Samuel Shao-Min ;

Liu, David T. L. ;

Zhao, Connie ;

Tam, Pancy O. S. ;

Chan, Wai Man ;

Lam, Dennis S. C. ;

Snyder, Michael ;

Barnstable, Colin ;

Pang, Chi Pui ;

Hoh, Josephine .

SCIENCE, 2006, 314 (5801) :989-992

[7] Treatment of nonexudative (dry) age-related macular degeneration [J].

Donaldson, Mark J. ;

Pulido, Jose S. .

CURRENT OPINION IN OPHTHALMOLOGY, 2006, 17 (03) :267-274

[8] Complement factor H polymorphism and age-related macular degeneration [J].

Edwards, AO ;

Ritter, R ;

Abel, KJ ;

Manning, A ;

Panhuysen, C ;

Farrer, LA .

SCIENCE, 2005, 308 (5720) :421-424

[9] Meta-analysis of genome scans of age-related macular degeneration [J].

Fisher, SA ;

Abecasis, GR ;

Yashar, BM ;

Zareparsi, S ;

Swaroop, A ;

Iyengar, SK ;

Klein, BEK ;

Klein, R ;

Lee, KE ;

Majewski, J ;

Schultz, DW ;

Klein, ML ;

Seddon, JM ;

Santangelo, SL ;

Weeks, DE ;

Conley, YP ;

Mah, TS ;

Schmidt, S ;

Haines, JL ;

Pericak-Vance, MA ;

Gorin, MB ;

Schulz, HL ;

Pardi, F ;

Lewis, CM ;

Weber, BHF .

HUMAN MOLECULAR GENETICS, 2005, 14 (15) :2257-2264

[10] Variation in factor B (BF) and complement component 2 (C2) genes is associated with age-related macular degeneration [J].

Gold, B ;

Merriam, JE ;

Zernant, J ;

Hancox, LS ;

Taiber, AJ ;

Gehrs, K ;

Cramer, K ;

Neel, J ;

Bergeron, J ;

Barile, GR ;

Smith, RT ;

Dean, M ;

Allikmets, R .

NATURE GENETICS, 2006, 38 (04) :458-462

← 1 2 3 4 5 →