Literature DB >> 22120053

A rare variant in CFH directly links age-related macular degeneration with rare glomerular nephropathies.

Alan F Wright1.   

Abstract

A careful analysis of risk haplotypes in relation to age-related macular degeneration (AMD) susceptibility has led to the identification of a rare, high-penetrance variant in the complement factor H (CFH) gene that is also causally associated with atypical hemolytic uremic syndrome (aHUS) and related glomerulopathies. This finding provides a convincing causal mechanism linking the two diseases and develops a paradigm for the genetic architecture of a common and complex disease.

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Year:  2011        PMID： 22120053     DOI： 10.1038/ng.1012

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  13 in total

Review 1.  An integrated hypothesis that considers drusen as biomarkers of immune-mediated processes at the RPE-Bruch's membrane interface in aging and age-related macular degeneration.

Authors:  G S Hageman; P J Luthert; N H Victor Chong; L V Johnson; D H Anderson; R F Mullins
Journal:  Prog Retin Eye Res       Date:  2001-11       Impact factor: 21.198

2.  Haemolytic uraemic syndrome.

Authors:  David Kavanagh; Tim Goodship
Journal:  Nephron Clin Pract       Date:  2010-11-11

3.  Evidence for an inflammatory process in age-related macular degeneration gains new support.

Authors:  Dean Bok
Journal:  Proc Natl Acad Sci U S A       Date:  2005-05-10       Impact factor: 11.205

4.  A common CFH haplotype, with deletion of CFHR1 and CFHR3, is associated with lower risk of age-related macular degeneration.

Authors:  Anne E Hughes; Nick Orr; Hossein Esfandiary; Martha Diaz-Torres; Timothy Goodship; Usha Chakravarthy
Journal:  Nat Genet       Date:  2006-09-24       Impact factor: 38.330

5.  Impaired binding of the age-related macular degeneration-associated complement factor H 402H allotype to Bruch's membrane in human retina.

Authors:  Simon J Clark; Rahat Perveen; Svetlana Hakobyan; B Paul Morgan; Robert B Sim; Paul N Bishop; Anthony J Day
Journal:  J Biol Chem       Date:  2010-07-26       Impact factor: 5.157

Review 6.  Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration.

Authors:  Anand Swaroop; Emily Y Chew; Catherine Bowes Rickman; Gonçalo R Abecasis
Journal:  Annu Rev Genomics Hum Genet       Date:  2009       Impact factor: 8.929

7.  The complement factor H R1210C mutation is associated with atypical hemolytic uremic syndrome.

Authors:  Ruben Martinez-Barricarte; Gaia Pianetti; Ruxandra Gautard; Joachim Misselwitz; Lisa Strain; Veronique Fremeaux-Bacchi; Christine Skerka; Peter F Zipfel; Tim Goodship; Marina Noris; Giuseppe Remuzzi; Santiago Rodriguez de Cordoba
Journal:  J Am Soc Nephrol       Date:  2008-01-30       Impact factor: 10.121

Review 8.  Dense deposit disease: new insights.

Authors:  Patrick D Walker
Journal:  Curr Opin Nephrol Hypertens       Date:  2007-05       Impact factor: 2.894

Review 9.  Translational mini-review series on complement factor H: structural and functional correlations for factor H.

Authors:  C Q Schmidt; A P Herbert; H G Hocking; D Uhrín; P N Barlow
Journal:  Clin Exp Immunol       Date:  2008-01       Impact factor: 4.330

10.  A rare penetrant mutation in CFH confers high risk of age-related macular degeneration.

Authors:  Soumya Raychaudhuri; Oleg Iartchouk; Kimberly Chin; Perciliz L Tan; Albert K Tai; Stephan Ripke; Sivakumar Gowrisankar; Soumya Vemuri; Kate Montgomery; Yi Yu; Robyn Reynolds; Donald J Zack; Betsy Campochiaro; Peter Campochiaro; Nicholas Katsanis; Mark J Daly; Johanna M Seddon
Journal:  Nat Genet       Date:  2011-10-23       Impact factor: 38.330
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  6 in total

1.  Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese.

Authors:  Jingyuan Xie; Krzysztof Kiryluk; Yifu Li; Nikol Mladkova; Li Zhu; Ping Hou; Hong Ren; Weiming Wang; Hong Zhang; Nan Chen; Ali G Gharavi
Journal:  J Am Soc Nephrol       Date:  2016-03-03       Impact factor: 10.121

Review 2.  THE PATHOPHYSIOLOGY OF GEOGRAPHIC ATROPHY SECONDARY TO AGE-RELATED MACULAR DEGENERATION AND THE COMPLEMENT PATHWAY AS A THERAPEUTIC TARGET.

Authors:  David S Boyer; Ursula Schmidt-Erfurth; Menno van Lookeren Campagne; Erin C Henry; Christopher Brittain
Journal:  Retina       Date:  2017-05       Impact factor: 4.256

3.  Tissue-specific host recognition by complement factor H is mediated by differential activities of its glycosaminoglycan-binding regions.

Authors:  Simon J Clark; Liam A Ridge; Andrew P Herbert; Svetlana Hakobyan; Barbara Mulloy; Rachel Lennon; Reinhard Würzner; B Paul Morgan; Dusan Uhrín; Paul N Bishop; Anthony J Day
Journal:  J Immunol       Date:  2013-01-30       Impact factor: 5.422

4.  Associations of CFH polymorphisms and CFHR1-CFHR3 deletion with blood pressure and hypertension in Chinese population.

Authors:  Wei Gan; Johnna Wu; Ling Lu; Xu Xiao; Heng Huang; Fulong Wang; Jingwen Zhu; Liang Sun; Gang Liu; Yi Pan; Huaixing Li; Xu Lin; Yan Chen
Journal:  PLoS One       Date:  2012-07-25       Impact factor: 3.240

5.  Functional analyses of complement convertases using C3 and C5-depleted sera.

Authors:  Marcin Okroj; Emelie Holmquist; Ben C King; Anna M Blom
Journal:  PLoS One       Date:  2012-10-10       Impact factor: 3.240

6.  A haplotype in CFH family genes confers high risk of rare glomerular nephropathies.

Authors:  Yin Ding; Weiwei Zhao; Tao Zhang; Hao Qiang; Jianping Lu; Xin Su; Shuzhen Wen; Feng Xu; Mingchao Zhang; Haitao Zhang; Caihong Zeng; Zhihong Liu; Huimei Chen
Journal:  Sci Rep       Date:  2017-07-20       Impact factor: 4.379
  6 in total

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