Journal ArticleDOI
Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Gudmar Thorleifsson,Kristinn P. Magnusson,Patrick Sulem,G. Bragi Walters,Daniel F. Gudbjartsson,Hreinn Stefansson,Thorlakur Jonsson,Adalbjorg Jonasdottir,Aslaug Jonasdottir,Gerdur Stefansdottir,Gisli Masson,Gudmundur A. Hardarson,H. Petursson,Arsaell Arnarsson,Mehdi Motallebipour,Ola Wallerman,Claes Wadelius,Jeffrey R. Gulcher,Unnur Thorsteinsdottir,Augustine Kong,Fridbert Jonasson,Kari Stefansson +21 more
TLDR
Two nonsynonymous SNPs in exon 1 of the gene LOXL1 explain the association with glaucoma, and the data suggest that they confer risk of XFG mainly through exfoliation syndrome (XFS).Abstract:
Glaucoma is a leading cause of irreversible blindness A genome-wide search yielded multiple single-nucleotide polymorphisms (SNPs) in the 15q241 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 XFGread more
Citations
More filters
Journal ArticleDOI
Human behavioral informatics in genetic studies of neuropsychiatric disease: multivariate profile-based analysis.
TL;DR: It is proposed that behavioral profile-based phenotypes provide a meaningful alternative to the use of single measures, such as diagnostic category, in genetic association studies of neuropsychiatric disease.
Book ChapterDOI
CHAPTER 1 – Organization, Variation and Expression of the Human Genome as a Foundation of Genomic and Personalized Medicine
Book ChapterDOI
Design of tag SNP whole genome genotyping arrays.
TL;DR: This chapter provides an overview of the tag SNP-based selection strategy for Infinium whole-genome genotyping BeadChips, including the Human 1 M BeadChip.
Journal ArticleDOI
Association Between LOXL1 and Pseudoexfoliation
TL;DR: 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).
Journal ArticleDOI
Microarray Analysis of Iris Gene Expression in Mice with Mutations Influencing Pigmentation
TL;DR: In this article, the authors focused on three ocular conditions: albinism, pigment dispersion syndrome, and exfoliation syndrome and found that mutations in the tyrosinase (TYR) gene are associated with these conditions.
References
More filters
Journal ArticleDOI
Statistical Aspects of the Analysis of Data From Retrospective Studies of Disease
Nathan Mantel,William Haenszel +1 more
TL;DR: In this paper, the role and limitations of retrospective investigations of factors possibly associated with the occurrence of a disease are discussed and their relationship to forward-type studies emphasized, and examples of situations in which misleading associations could arise through the use of inappropriate control groups are presented.
Journal ArticleDOI
Global data on visual impairment in the year 2002
Serge Resnikoff,Donatella Pascolini,Daniel Etya'ale,Ivo Kocur,Ramachandra Pararajasegaram,Gopal P. Pokharel,Silvio P Mariotti +6 more
TL;DR: Estimates from data on low vision and blindness as defined in the International statistical classification of diseases, injuries and causes of death, 10th revision show cataract remains the leading cause of visual impairment in all regions of the world, except in the most developed countries.
Journal ArticleDOI
Genomic control for association studies.
Bernie Devlin,Kathryn Roeder +1 more
TL;DR: The performance of the genomic control method is quite good for plausible effects of liability genes, which bodes well for future genetic analyses of complex disorders.
Journal ArticleDOI
The definition and classification of glaucoma in prevalence surveys
TL;DR: This review describes a scheme for diagnosis of glaucoma in population based prevalence surveys that makes provision for diagnosing glauca in eyes with severe visual loss where formal field testing is impractical, and for blind eyes in which the optic disc cannot be seen because of media opacities.
Journal ArticleDOI
Identification of a Gene That Causes Primary Open Angle Glaucoma
Edwin M. Stone,John H. Fingert,Wallace L.M. Alward,Thai Nguyen,Jon R. Polansky,Sara L.F. Sunden,Darryl Y. Nishimura,Abbot F. Clark,Arne M. Nystuen,Brian E. Nichols,David A. Mackey,Robert Ritch,Jeffrey W. Kalenak,E. Randy Craven,Val C. Sheffield +14 more
TL;DR: A gene encoding a trabecular meshwork protein (TIGR) mapped to the narrowest disease interval by STS content and radiation hybrid mapping and will aid in early diagnosis of glaucoma.