A functional variant in the CFI gene confers a high risk of age-related macular degeneration

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Search: onr:"swepub:oai:lup.lub.lu.se:6e8c298e-6eea-4f8e-93ed-84b24934cf8b" > A functional varian...

1 of 1
Previous record
Next record
To hitlist

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

van de Ven, Johannes P. H. (author)

Nilsson, Sara (author): Lund University,Lunds universitet,Proteinkemi, Malmö,Forskargrupper vid Lunds universitet,Protein Chemistry, Malmö,Lund University Research Groups

Tan, Perciliz L. (author)

Buitendijk, Gabrille H. S. (author)

Ristau, Tina (author)

Mohlin, Frida (author): Lund University,Lunds universitet,Proteinkemi, Malmö,Forskargrupper vid Lunds universitet,Protein Chemistry, Malmö,Lund University Research Groups

Nabuurs, Sander B. (author)

Schoenmaker-Koller, Frederieke E. (author)

Smailhodzic, Dzenita (author)

Campochiaro, Peter A. (author)

Zack, Donald J. (author)

Duvvari, Maheswara R. (author)

Bakker, Bjorn (author)

Paun, Codrut C. (author)

Boon, Camiel J. F. (author)

Uitterlinden, Andre G. (author)

Liakopoulos, Sandra (author)

Klevering, B. Jeroen (author)

Fauser, Sascha (author)

Daha, Mohamed R. (author)

Katsanis, Nicholas (author)

Klaver, Caroline C. W. (author)

Blom, Anna (author): Lund University,Lunds universitet,Proteinkemi, Malmö,Forskargrupper vid Lunds universitet,Protein Chemistry, Malmö,Lund University Research Groups

Hoyng, Carel B. (author)

den Hollander, Anneke I. (author)

show less...

(creator_code:org_t)

2013-05-19
2013
English.
In: Nature Genetics. - : Springer Science and Business Media LLC. - 1546-1718 .- 1061-4036. ; 45:7, s. 813-813

Related links:: http://dx.doi.org/10...; show more...; https://lup.lub.lu.s...; https://doi.org/10.1...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

Up to half of the heritability of age-related macular degeneration (AMD) is explained by common variants(1-5). Here, we report the identification of a rare, highly penetrant missense mutation in CFI encoding a p.Gly119Arg substitution that confers high risk of AMD (P = 3.79 x 10(-6); odds ratio (OR) = 22.20, 95% confidence interval (CI) = 2.98-164.49). Plasma and sera from cases carrying the p.Gly119Arg substitution mediated the degradation of C3b, both in the fluid phase and on the cell surface, to a lesser extent than those from controls. Recombinant protein studies showed that the Gly119Arg mutant protein is both expressed and secreted at lower levels than wild-type protein. Consistent with these findings, human CFI mRNA encoding Arg119 had reduced activity compared to wild-type mRNA encoding Gly119 in regulating vessel thickness and branching in the zebrafish retina. Taken together, these findings demonstrate that rare, highly penetrant mutations contribute to the genetic burden of AMD.

Find in a library

Nature Genetics (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Basic Medicine; and Other Basic Medi ...

Articles in the publication: Nature Genetics

By the university: Lund University

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se

A functional variant in the CFI gene confers a high risk of age-related macular degeneration

Subject headings

Publication and Content Type

Find in a library

To the university's database

Find more in SwePub

Search outside SwePub