Skip header and navigation

Refine By

5 records – page 1 of 1.

The ABCA4 2588G>C Stargardt mutation: single origin and increasing frequency from South-West to North-East Europe.

https://arctichealth.org/en/permalink/ahliterature50771
Source
Eur J Hum Genet. 2002 Mar;10(3):197-203
Publication Type
Article
Date
Mar-2002
Author
Alessandra Maugeri
Kris Flothmann
Nadine Hemmrich
Sofie Ingvast
Paula Jorge
Eva Paloma
Reshma Patel
Jean-Michel Rozet
Jaana Tammur
Francesco Testa
Susana Balcells
Alan C Bird
Han G Brunner
Carel B Hoyng
Andres Metspalu
Francesca Simonelli
Rando Allikmets
Shomi S Bhattacharya
Michele D'Urso
Roser Gonzàlez-Duarte
Josseline Kaplan
Gerard J te Meerman
Rosário Santos
Marianne Schwartz
Guy Van Camp
Claes Wadelius
Bernhard H F Weber
Frans P M Cremers
Author Affiliation
Department of Human Genetics, University Medical Center Nijmegen, Nijmegen, The Netherlands. a.maugeri@antrg.azn.nl
Source
Eur J Hum Genet. 2002 Mar;10(3):197-203
Date
Mar-2002
Language
English
Publication Type
Article
Keywords
ATP-Binding Cassette Transporters - genetics
Alleles
Base Sequence
Europe
Gene Frequency
Heterozygote
Humans
Molecular Sequence Data
Mutation
Point Mutation
Research Support, Non-U.S. Gov't
United States
Abstract
Inherited retinal dystrophies represent the most important cause of vision impairment in adolescence, affecting approximately 1 out of 3000 individuals. Mutations of the photoreceptor-specific gene ABCA4 (ABCR) are a common cause of retinal dystrophy. A number of mutations have been repeatedly reported for this gene, notably the 2588G>C mutation which is frequent in both patients and controls. Here we ascertained the frequency of the 2588G>C mutation in a total of 2343 unrelated random control individuals from 11 European countries and 241 control individuals from the US, as well as in 614 patients with STGD both from Europe and the US. We found an overall carrier frequency of 1 out of 54 in Europe, compared with 1 out of 121 in the US, confirming that the 2588G>C ABCA4 mutation is one of the most frequent autosomal recessive mutations in the European population. Carrier frequencies show an increasing gradient in Europe from South-West to North-East. The lowest carrier frequency, 0 out of 199 (0%), was found in Portugal; the highest, 11 out of 197 (5.5%), was found in Sweden. Haplotype analysis in 16 families segregating the 2588G>C mutation showed four intragenic polymorphisms invariably present in all 16 disease chromosomes and sharing of the same allele for several markers flanking the ABCA4 locus in most of the disease chromosomes. These results indicate a single origin of the 2588G>C mutation which, to our best estimate, occurred between 2400 and 3000 years ago.
PubMed ID
11973624 View in PubMed
Less detail

Allelic variants in the MYOC/TIGR gene in patients with primary open-angle, exfoliative glaucoma and unaffected controls.

https://arctichealth.org/en/permalink/ahliterature50701
Source
Ophthalmic Genet. 2003 Jun;24(2):103-10
Publication Type
Article
Date
Jun-2003
Author
Mattias Jansson
Towa Marknell
Lidija Tomic
Lill-Inger Larsson
Claes Wadelius
Author Affiliation
Department of Genetics and Pathology, Unit of Clinical Genetics, Rudbeck Laboratory, Uppsala University, SE-751 85 Uppsala, Sweden.
Source
Ophthalmic Genet. 2003 Jun;24(2):103-10
Date
Jun-2003
Language
English
Publication Type
Article
Keywords
Aged
Alleles
Case-Control Studies
Chromatography, High Pressure Liquid
Chromosomes, Human, Pair 1 - genetics
Comparative Study
Cytoskeletal Proteins
DNA Mutational Analysis
Exfoliation Syndrome - genetics
Eye Proteins - genetics
Female
Glaucoma, Open-Angle - genetics - pathology
Glycoproteins - genetics
Humans
Male
Mutation - genetics
Polymerase Chain Reaction
Reference Values
Research Support, Non-U.S. Gov't
Sweden
Trabecular Meshwork
Variation (Genetics) - genetics
Abstract
One of the leading causes of blindness in the world is glaucoma. The most common form is primary open-angle glaucoma (POAG). The only gene identified so far as being associated with POAG is the MYOC gene; 2-4% of the patients have been reported to carry mutations in this gene. Exfoliative glaucoma is a secondary glaucoma, in which one of the symptoms is exfoliations on the lens capsule and anterior segment of the eye. No gene has been identified as being associated with this variant. The aim of the present study was to analyze Swedish patient material for allelic variants and mutations in the coding region of the MYOC gene. Two hundred patients with POAG and 200 with exfoliative glaucoma were analyzed using enzymatic cleavage assay and denaturing high-performance liquid chromatography (dHPLC). An age-matched control group (n = 200), in whom glaucoma had been excluded, was also analyzed using dHPLC. Eight allele variants were identified, two of which were determined to be disease-causing mutations. These two disease-causing mutations were only found in POAG patients, indicating a prevalence of 1% in this patient group. This frequency is lower than that reported in other studies of other populations. No disease-causing mutations were found in the exfoliative glaucoma patients, indicating a fundamentally different genetic basis for that glaucoma variant.
PubMed ID
12789574 View in PubMed
Less detail

Analysis of rare variants and common haplotypes in the optineurin gene in Swedish glaucoma cases.

https://arctichealth.org/en/permalink/ahliterature173833
Source
Ophthalmic Genet. 2005 Jun;26(2):85-9
Publication Type
Article
Date
Jun-2005
Author
Mattias Jansson
Claes Wadelius
Tayebeh Rezaie
Mansoor Sarfarazi
Author Affiliation
Department of Genetics and Pathology Unit of Medical Genetics, Uppsala University, SE-751 85 Uppsala, Sweden.
Source
Ophthalmic Genet. 2005 Jun;26(2):85-9
Date
Jun-2005
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Case-Control Studies
Cohort Studies
DNA Mutational Analysis
Female
Genetic Variation
Glaucoma, Open-Angle - epidemiology - genetics
Haplotypes - genetics
Humans
Male
Middle Aged
Polymorphism, Single Nucleotide - genetics
Sweden - epidemiology
Transcription Factor TFIIIA - genetics
Abstract
Glaucoma, a leading cause of blindness in the world, is characterized by neuropathy of the retinal ganglion cells and the optic nerve. Recently, sequence alterations in the optineurin gene were shown to be associated with the disease in families with primarily normal tension glaucoma.
In the present study, 200 patients with primary open-angle glaucoma, 200 patients with exfoliative glaucoma, and 200 matched controls were tested for alterations in the coding sequences using denaturing high-performance liquid chromatography and sequencing. In addition, single nucleotide polymorphisms distributed throughout the gene were typed and haplotypes were constructed.
No disease-causing alterations were found in either of the patient cohorts. The risk-associated allele M98K was found in equal amounts in both patients and controls. Analysis of haplotype frequencies and distribution revealed high haplotype diversity but no differences between patients and controls.
These experiments show no association between optineurin and our Swedish cohorts of high-pressure glaucoma cases, either in coding sequence or in haplotype frequency and distribution.
PubMed ID
16020311 View in PubMed
Less detail

Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.

https://arctichealth.org/en/permalink/ahliterature161963
Source
Science. 2007 Sep 7;317(5843):1397-400
Publication Type
Article
Date
Sep-7-2007
Author
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
Hjorvar Petursson
Arsaell Arnarsson
Mehdi Motallebipour
Ola Wallerman
Claes Wadelius
Jeffrey R Gulcher
Unnur Thorsteinsdottir
Augustine Kong
Fridbert Jonasson
Kari Stefansson
Author Affiliation
deCODE genetics Inc, 101 Reykjavik, Iceland.
Source
Science. 2007 Sep 7;317(5843):1397-400
Date
Sep-7-2007
Language
English
Publication Type
Article
Keywords
Adipose Tissue - metabolism
Amino Acid Oxidoreductases - genetics
Case-Control Studies
Chi-Square Distribution
Exfoliation Syndrome - genetics
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Glaucoma - genetics
Glaucoma, Open-Angle - genetics
Humans
Iceland
Male
Polymorphism, Single Nucleotide
Abstract
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.
Notes
Comment In: Am J Ophthalmol. 2007 Dec;144(6):974-97518036875
PubMed ID
17690259 View in PubMed
Less detail

Genetic variants associated with angiotensin-converting enzyme inhibitor-induced cough: a genome-wide association study in a Swedish population.

https://arctichealth.org/en/permalink/ahliterature284627
Source
Pharmacogenomics. 2017 Feb;18(3):201-213
Publication Type
Article
Date
Feb-2017
Author
Pär Hallberg
Matilda Persson
Tomas Axelsson
Marco Cavalli
Pia Norling
Hans-Erik Johansson
Qun-Ying Yue
Patrik Ke Magnusson
Claes Wadelius
Niclas Eriksson
Mia Wadelius
Source
Pharmacogenomics. 2017 Feb;18(3):201-213
Date
Feb-2017
Language
English
Publication Type
Article
Keywords
Adult
Aged
Aged, 80 and over
Angiotensin-Converting Enzyme Inhibitors - adverse effects
Cough - chemically induced - epidemiology - genetics
Female
Genetic Association Studies - methods
Genetic Variation - genetics
Genome-Wide Association Study - methods
Humans
Male
Middle Aged
Population Surveillance - methods
Surveys and Questionnaires
Sweden - epidemiology
Abstract
We conducted a genome-wide association study on angiotensin-converting enzyme inhibitor-induced cough and used our dataset to replicate candidate genes identified in previous studies.
A total of 124 patients and 1345 treated controls were genotyped using Illumina arrays. The genome-wide significance level was set to p
PubMed ID
28084903 View in PubMed
Less detail