Search: (WFRF:(Wallerman Ola)) srt2:(2005-2009) >
Common sequence var...
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma
-
Thorleifsson, Gudmar (author)
-
Magnusson, Kristinn P. (author)
-
Sulem, Patrick (author)
-
show more...
-
Walters, G. Bragi (author)
-
Gudbjartsson, Daniel F. (author)
-
Stefansson, Hreinn (author)
-
Jonsson, Thorlakur (author)
-
Jonasdottir, Adalbjorg (author)
-
Jonasdottir, Aslaug (author)
-
Stefansdottir, Gerdur (author)
-
Masson, Gisli (author)
-
Hardarson, Gudmundur A. (author)
-
Petursson, Hjorvar (author)
-
Arnarsson, Arsaell (author)
-
- Motallebipour, Mehdi (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
- Wallerman, Ola (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
- Wadelius, Claes (author)
- Uppsala universitet,Institutionen för genetik och patologi
-
Gulcher, Jeffrey R. (author)
-
Thorsteinsdottir, Unnur (author)
-
Kong, Augustine (author)
-
Jonasson, Fridbert (author)
-
Stefansson, Kari (author)
-
show less...
-
(creator_code:org_t)
- American Association for the Advancement of Science (AAAS), 2007
- 2007
- English.
-
In: Science. - : American Association for the Advancement of Science (AAAS). - 0036-8075 .- 1095-9203. ; 317:5843, s. 1397-1400
- Related links:
-
https://urn.kb.se/re...
-
show more...
-
https://doi.org/10.1...
-
show less...
Abstract
Subject headings
Close
- Glaucoma is a leading cause of irreversible blindness. A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q24.1 region associated with glaucoma. Further investigation revealed that the association is confined to exfoliation glaucoma (XFG). Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS). About 25% of the general population is homozygous for the highest-risk haplotype, and their risk of suffering from XFG is more than 100 times that of individuals carrying only low-risk haplotypes. The population-attributable risk is more than 99%. The product of LOXL1 catalyzes the formation of elastin fibers found to be a major component of the lesions in XFG.
Keyword
- MEDICINE
- MEDICIN
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
-
Science
(Search for host publication in LIBRIS)
To the university's database
- By the author/editor
-
Thorleifsson, Gu ...
-
Magnusson, Krist ...
-
Sulem, Patrick
-
Walters, G. Brag ...
-
Gudbjartsson, Da ...
-
Stefansson, Hrei ...
-
show more...
-
Jonsson, Thorlak ...
-
Jonasdottir, Ada ...
-
Jonasdottir, Asl ...
-
Stefansdottir, G ...
-
Masson, Gisli
-
Hardarson, Gudmu ...
-
Petursson, Hjorv ...
-
Arnarsson, Arsae ...
-
Motallebipour, M ...
-
Wallerman, Ola
-
Wadelius, Claes
-
Gulcher, Jeffrey ...
-
Thorsteinsdottir ...
-
Kong, Augustine
-
Jonasson, Fridbe ...
-
Stefansson, Kari
-
show less...
- Articles in the publication
-
Science
- By the university
-
Uppsala University