| 1. |
- Abramsson, Alexandra, 1973, et al.
(författare)
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No Association of LOXL1 Gene Polymorphisms with Alzheimer's Disease
- 2011
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Ingår i: NeuroMolecular Medicine. - : Springer Science and Business Media LLC. - 1535-1084 .- 1559-1174. ; 13:2, s. 160-166
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Tidskriftsartikel (refereegranskat)abstract
- Aggregation of amyloid-beta is one of the major characteristics in brains of patients with Alzheimer's disease (AD). Although several mechanisms behind the formation of such aggregates have been suggested the regulatory factors are still unknown. The present study aimed at investigating the association of lysyl oxidase-like 1 (LOXL1) polymorphisms with AD diagnosis and cerebrospinal fluid biomarkers (CSF) for the disease. Proteins of the lysyl oxidase (LOX) family are involved in cross-linking extracellular matrix proteins to insoluble fibers and have been associated with neurodegenerative diseases including AD. Genetic polymorphisms in LOXL1 (rs1048661, rs3825942, and rs2165241) have been linked to exfoliation syndrome and exfoliation glaucoma, conditions that have shown association with AD. The polymorphisms were genotyped by Taqman allelic discrimination in a study sample including AD patients (n = 318) and controls (n = 575). In a subgroup of the population, the polymorphisms were analyzed in relation to APOE epsilon 4 genotype and to CSF (T-tau, P-tau, and A beta(1-42)). No evidence for associations of these polymorphisms with risk for AD or any of the studied CSF biomarkers measured was found. These results do not support LOXL1 as being a major risk gene for AD.
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| 2. |
- Ayala, Marcelo, 1965, et al.
(författare)
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Association of Single Nucleotide Polymorphisms Located in LOXL1 with Exfoliation Glaucoma in Southwestern Sweden
- 2021
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Ingår i: Genes. - : MDPI AG. - 2073-4425. ; 12:9
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Tidskriftsartikel (refereegranskat)abstract
- Introduction: Glaucoma is an optic neuropathy that leads to visual field defects. Genetic mechanisms seem to be involved in glaucoma development. Lysyl Oxidase Like 1 (LOXL1) has been described in previous studies as a predictor factor for exfoliation glaucoma. The present article studied the association between three single nucleotide polymorphisms (SNPs) in the LOXL1 gene and the presence of exfoliation glaucoma in Southwestern Sweden. Methods: Case-control study for genetic association. In total, 136 patients and 1011 controls were included in the study. Patients with exfoliation glaucoma were recruited at the Eye Department of Sahlgrenska University Hospital and Skaraborgs Hospital, Sweden. Controls were recruited from the Gothenburg H70 Birth Cohort Study. Three different SNPs were genotyped: LOXL1_rs3825942, LOXL1_rs2165241 and LOXL1_rs1048661. Results: The distribution of allele frequencies was significantly different between controls and glaucoma patients; for rs3825942 (p = 2 x 10(-12)), for rs2165241 (p = 3 x 10(-16)) and for rs1048661 (p = 2 x 10(-6)). Logistic regression analyses using an additive genetic model, adjusted for sex and age, also showed associations between the studied SNPs and glaucoma (p = 9 x 10(-6); p = 2 x 10(-14); p = 1 x 10(-4)). Conclusion: A strong association was found between allele frequencies of three different SNPs (LOXL1_rs3825942, LOXL1_rs2165241, and LOXL1_rs1048661) and the presence of exfoliation glaucoma in a Southwestern Swedish population.
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| 3. |
- Daborg, Jonny, et al.
(författare)
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Complement Gene Single Nucleotide Polymorphisms and Biomarker Endophenotypes of Alzheimer's Disease
- 2013
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Ingår i: Journal of Alzheimer's Disease. - 1387-2877. ; 35:1, s. 51-57
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Tidskriftsartikel (refereegranskat)abstract
- The complement system has been implicated in both physiological synapse elimination and Alzheimer's disease (AD). Here, we investigated associations between four single nucleotide polymorphisms (SNPs) in complement genes and cerebrospinal fluid (CSF) biomarkers for AD in 452 neurochemically or neuropathologically verified AD cases and 678 cognitively normal controls. None of the SNPs associated with risk of AD but there were potential associations of rs9332739 in the C2 gene and rs4151667 in the complement factor B gene with CSF tau levels (p = 0.023) and Mini-Mental State Examination scores (p = 0.012), both of which may be considered markers of disease intensity/severity.
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| 4. |
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| 5. |
- Havstam Johansson, Lena, 1963, et al.
(författare)
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The prevalence of glaucoma in a 70-year-old Swedish population in the city area of Gothenburg.
- 2023
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Ingår i: Acta ophthalmologica. - 1755-3768. ; 102:2, s. 208-15
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Tidskriftsartikel (refereegranskat)abstract
- To determine the prevalence of and risk factors for open-angle glaucoma in a population of 70-year-olds in Gothenburg, Sweden and to compare the visual function between the glaucoma population and the non-glaucoma population.Of the entire cohort (n = 1203), 1182 participants responded a questionnaire on self-reported glaucoma and were tested for blood pressure (BP) and diabetes. In all, 560 participants underwent ophthalmic examination including best-corrected visual acuity (BCVA), intraocular pressure (IOP), central corneal thickness (CCT), contrast sensitivity (CS), perimetry and photos of the retina and lens.Glaucoma prevalence was 4.8% (95% confidence interval, 3.0%-6.6%), of which 56% was previously undiagnosed. The proportion of participants with diastolic BP >90 mmHg was higher in the non-glaucomatous group (8.3%) than the glaucoma group (0%), p < 0.001. A family history of glaucoma was present in a larger proportion of the glaucoma group (39%) than of the non-glaucomatous group (1.1%), p = 0.001. Mean IOP in individuals without glaucoma was 16 mmHg, versus 21 mmHg in participants with glaucoma detected at the examination. IOP was ≤21 mmHg in 67% among participants with previously unknown glaucoma. BCVA was lower in eyes with previously unknown glaucoma than in eyes without glaucoma (p = 0.017) but BCVA in the best eye did not differ. CCT and CS were similar in all cases.The prevalence of glaucoma was comparable to that reported previously. A family history of glaucoma and higher IOP were risk factors associated with glaucoma. BCVA in the best eye did not differ significantly between subjects with and without glaucoma.
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| 6. |
- Havstam Johansson, Lena, 1963, et al.
(författare)
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Vision-related quality of life among 70-year-olds diagnosed with glaucoma.
- 2023
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Ingår i: Acta ophthalmologica. - 1755-3768.
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Tidskriftsartikel (refereegranskat)abstract
- To evaluate the effect of glaucoma on vision-related quality of life (VRQoL), lifestyle, physical factors and socioeconomic status in a 70-year-old population in Gothenburg, Sweden.Responses to questionnaires (N = 1182) between groups with and without self-reported glaucoma were analysed. Questionnaires included National Eye Institute Visual Functioning Questionnaire (NEI VFQ-25), Short-Form Health Survey (SF-36), physical activity, socioeconomics, alcohol and tobacco consumption. Balance test and body mass index were also included. About half of the participants were randomized to ophthalmic examination (N = 560), variables were analysed separately according to known and confirmed glaucoma, ocular hypertension and/or cases of previously unknown glaucoma.Both conventional and Rasch analysis of the NEI VFQ-25 showed that VRQoL was lower for individuals self-reporting glaucoma (p = 0.003/p = 0.024). Regarding general QoL, the participants did not differ apart from people self-reporting glaucoma reported worse general health (p = 0.01). Using logistic regression with lower VRQoL as the dependent variable glaucoma was not a significant predictor of poor VRQoL, odds ratio (OR) 1.83 (95% confidence interval (CI) 0.76-4.39, p = 0.18). Low household income was associated with lower VRQoL (OR 1.63, 95% CI 1.14-2.33, p = 0.01). Socioeconomics, physical activity and lifestyle factors were comparable between the groups (N = 915). Among participants who underwent ophthalmic examination no significant differences were found between glaucoma cases and non-glaucoma cases in relation to VRQoL (N = 560).Patients with self-reported glaucoma assessed a lower VRQoL but not lower general quality of life. Poorer household income was associated with worse VRQoL. General health was reported low in the glaucoma population but lifestyle or physical factors did not diverge.
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| 7. |
- Havstam Johansson, Lena, 1963, et al.
(författare)
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Vision-related quality of life and visual function in a 70-year-old Swedish population
- 2020
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Ingår i: Acta Ophthalmologica. - : Wiley. - 1755-375X .- 1755-3768. ; 98:5, s. 521-529
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Tidskriftsartikel (refereegranskat)abstract
- Purpose To investigate vision-related quality of life (VRQoL), visual function and predictors of poor vision in a population of 70-year-olds. Methods Self-reported ocular morbidity and responses to the National Eye Institute Visual Functioning Questionnaire-25 (NEI VFQ-25) in a cross-sectional population study (N = 1203) in Gothenburg, Sweden, were compared with results from ophthalmic examination (N = 560). Results The most common self-reported ophthalmic morbidities were cataract (23.4%), age-related macular degeneration (AMD; 4.7%), glaucoma (4.3%) and diabetic retinopathy (1.4%). Cataract was more prevalent in women (p = 0.001). The composite score from NEI VFQ-25 for the entire cohort was 91.4 (standard deviation: 27.5). When comparing composite score for different eye diseases, persons with cataract or AMD exhibited lower scores (p = 0.029 and 0.018, respectively). Best-corrected visual acuity (BCVA) was normal (>= 0.5 decimal) in 98.9%; two individuals had low vision (<0.3). Men exhibited better BCVA (median: -0.08 logMAR) than women (-0.06; p = 0.005). Visual field defects were observed in 16.3% and uncorrected refractive errors in 61.5%. Poor vision was reported by 7.4% of participants with presenting visual acuity (PVA) >= 0.5 (decimal), while 66.7% with PVA PVA <0.5, 55.6% obtained a BCVA of >= 1.0 with the right correction. Low contrast sensitivity was a significant predictor of experiencing poor vision (p = 0.008), while PVA and visual field defects were not. Conclusions Low contrast sensitivity is a predictor of experiencing poor vision. There is a discrepancy between subjective/objective visual function and a high prevalence of uncorrected refractive errors. Women have more cataract, and men demonstrate slightly better visual acuity.
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| 8. |
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| 9. |
- Landgren, Sara, 1980, et al.
(författare)
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No Association of VEGF Polymorphims with Alzheimer's Disease
- 2010
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Ingår i: NeuroMolecular Medicine. - : Springer Science and Business Media LLC. - 1535-1084 .- 1559-1174. ; 12:3, s. 224-228
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Tidskriftsartikel (refereegranskat)abstract
- The vascular hypothesis of Alzheimer's disease (AD) has brought the vascular endothelial growth factor (VEGF) into focus. The genomic region including the VEGF gene has been linked to AD and single nucleotide polymorphisms (SNPs) of the VEGF have in previous studies been associated with AD risk. To further evaluate these findings, we genotyped two SNPs in the VEGF gene (rs699947 [-2578]) and rs1570360 [-1154]) by TaqMan Allelic Discrimination in a study sample including AD patients (n = 801) and controls (n = 286). In a subgroup of the population these SNPs were analyzed in relation to APOE epsilon 4 genotype, to cerebrospinal fluid biomarkers (T-tau, P-tau, and beta(42)-Amyloid) as well as to neuropathological markers for AD (neurofibrillary tangles and senile plaques). No significant associations with risk for AD or any of the studied biomarkers could be found in this study, thus not supporting VEGF as being a major risk gene for AD.
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| 10. |
- Nordström, Moa, 1982, et al.
(författare)
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Pseudophakia and Lens Opacities in 70-Year-Olds in Gothenburg, Sweden; Gender Differences, Impact on Self-Reported Visual Function and Validation of Self-Reported Cataract and Pseudophakia
- 2022
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Ingår i: Clinical Ophthalmology. - 1177-5483. ; 16, s. 3269-3281
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Tidskriftsartikel (refereegranskat)abstract
- Purpose: The study aimed at determining the prevalence and sex differences in cataract, pseudophakia, lens opacities and self -reported cataract in 70-year-old people in Gothenburg, Sweden. The purpose was also to identify correlations between lens opacities, visual acuity and subjective visual function, and to validate self-reported cataract and cataract surgery.Patients and Methods: Population-based cross-sectional study where participants (n=1182) answered questions about self-reported diagnosis of cataract and cataract surgery. A total of 1139 subjects completed the National Eye Institute Visual Functioning Questionnaire-25 (NEI VFQ-25), 560 subjects underwent ophthalmic examination including visual acuity and lens photography. t-test, Pearson chi-square and Mann-Whitney U-test were used for obtaining p-values. ANOVA (analysis of variances, Kruskal- Wallis, one-way) was used to compare VFQ-25 between 3 groups; no cataract, cataract and pseudophakia. To clarify the differences between specific pairs of groups post-hoc test (Bonferroni) was used after ANOVA.Results: Self-reported cataract was more common in women than in men (27.2% vs 19.1%, p=0.001, chi-square). Cataract surgery was reported by 16.3% of women and 12.6% of men (p=0.072). Upon eye examination, the prevalence of pseudophakia was 16.9% in women compared to 10.2% in men (p=0.020). The prevalence of cataract, including pseudophakia, was 31.9% in women versus 23.8% in men (p=0.033). Significant correlations (Spearman's rho) were found between lens opacities and visual acuity. Self-reported cataract surgery showed a very high specificity and high sensitivity. The composite score from NEI VFQ-25 was lower in people with pseudophakia than in people with/without cataract (p=0.012, Kruskal-Wallis).Conclusion: The prevalence of cataract including pseudophakia in 70-year-olds in Gothenburg is higher compared to previous studies in similar geographical areas. Also, it is more common in women than in men. The lack of significant sex differences in lens opacities may be due to cataract surgery at an earlier stage. Validation showed very good agreement between pseudophakia and self-reported cataract surgery.
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