Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure.
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SUBMITTER: Junemann A
PROVIDER: S-EPMC1772093 | biostudies-literature | 2004 Apr
REPOSITORIES: biostudies-literature
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Prospective case control study on genetic assocation of apolipoprotein epsilon2 with intraocular pressure.
Jünemann A A Bleich S S Reulbach U U Henkel K K Wakili N N Beck G G Rautenstrauss B B Mardin C C Naumann G O H GO Reis A A Kornhuber J J
The British journal of ophthalmology 20040401 4
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Project description:Glaucoma is a neurodegenerative disease that causes progressive, irreversible vision loss. Currently, intraocular pressure (IOP) is the only modifiable risk factor for glaucoma. However, glaucomatous degeneration may continue despite adequate IOP control. Therefore, there exists a need for treatment that protects the visual system, independent of IOP. This study sought, first, to longitudinally examine the neurobehavioral effects of different magnitudes and durations of IOP elevation using multi-parametric magnetic resonance imaging (MRI), optokinetics and histology; and, second, to evaluate the effects of oral citicoline treatment as a neurotherapeutic in experimental glaucoma. Eighty-two adult Long Evans rats were divided into six groups: acute (mild or severe) IOP elevation, chronic (citicoline-treated or untreated) IOP elevation, and sham (acute or chronic) controls. We found that increasing magnitudes and durations of IOP elevation differentially altered structural and functional brain connectivity and visuomotor behavior, as indicated by decreases in fractional anisotropy in diffusion tensor MRI, magnetization transfer ratios in magnetization transfer MRI, T1-weighted MRI enhancement of anterograde manganese transport, resting-state functional connectivity, visual acuity, and neurofilament and myelin staining along the visual pathway. Furthermore, 3 weeks of oral citicoline treatment in the setting of chronic IOP elevation significantly reduced visual brain integrity loss and visual acuity decline without altering IOP. Such effects sustained after treatment was discontinued for another 3 weeks. These results not only illuminate the close interplay between eye, brain, and behavior in glaucomatous neurodegeneration, but also support a role for citicoline in protecting neural tissues and visual function in glaucoma beyond IOP control.
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Project description:Virulence factor characterization of EAEC strains
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Project description:PurposeTo determine the effect of general anesthesia on intraocular pressure (IOP) in children with no intraocular pathology and determine which postanesthetic time point is most predictive of preinduction IOP.DesignProspective observational study.ParticipantsChildren with no intraocular pathology ≤ 18 years scheduled for general anesthesia as part of their routine care followed by a pediatric ophthalmologist at Nanjing Medical University.MethodsParticipants underwent a standardized general anesthetic protocol using a mask induction with sevoflurane and propofol maintenance. Intraocular pressure was measured at the following 7 time points: preinduction (taken in the preoperative area), postinduction minutes 1, 3, and 5, and postairway placement minutes 1, 3, and 5 for a total time period of 10 minutes after induction. A generalized estimating equation was used to evaluate the effect of anesthesia on IOP and the effect of patient factors (age, gender, vital signs, and airway type) on preanesthetic and postanesthetic IOP. An IOP prediction model was developed using the postanesthesia IOP measurements for predicting preinduction IOP.Main outcome measuresIntraocular pressure and change in IOP at prespecified time points.ResultsEighty-five children were enrolled with a mean ± standard deviation (SD) age of 7.5 ± 2.9 years. Mean ± SD preinduction IOP was 20.1 ± 3.7 mmHg. Overall, IOP was lowest at 3 minutes postinduction, decreased to a mean of 13.4 ± 3.7 mmHg (P < 0.001). After this, IOP rose 5 minutes postinduction to 16.5 ± 4.2 mmHg, which did not reach preinduction IOP levels (P < 0.001). The IOP prediction model showed that combining 1 minute postinduction and 3 minutes postairway was most predictive (R2 = 0.13), whereas 1 minute postairway was least predictive of preinduction IOP (R2 = 0.01).ConclusionsAfter the induction of general anesthesia in children, IOP temporarily decreases with a trough at 3 minutes postinduction before increasing and remaining stable just below preinduction levels. Intraocular pressure measurements taken 1 minute after induction with 3 minutes after airway placement are most predictive of preinduction IOP, though predictive value is relatively low.Financial disclosuresProprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
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Project description:Osteoarthritis (OA) is a disease impacting the synovial joint complex, yet transcriptional changes specific to shoulder OA remain underexplored. This study aims to profile transcriptomic changes in periarticular tissues from patients undergoing shoulder replacement for OA. By correlating these profiles with QuickDASH scores—a validated measure of worsening shoulder function—this research seeks to understand the gene expression changes associated with clinical decline. Capsular tissue biopsies from shoulder OA patients were compared with those from a control group undergoing shoulder stabilization for recurrent instability. This investigation forms part of a larger transcriptomic analysis of painful shoulder conditions which will address the current gap in knowledge regarding the molecular and genetic underpinnings of shoulder OA, rotator cuff tears and cuff-tear arthropathy.
2024-12-03 | GSE281476 | GEO
Project description:Elevated intraocular pressure (IOP) is influenced by environmental and genetic factors. It is associated with 23 multiple disease processes with primary open angle glaucoma (POAG) being the most prevalent. Due to its 24 complex, multifactorial nature, genetic predisposition is not completely understood thus, there is an urgent 25 need for additional investigations into the genetic regulation of IOP. Heterogenous stock (HS) outbred rats are 26 a multigenerational outbred population derived from eight inbred strains that have been fully sequenced. This 27 population is ideal for genome-wide association studies (GWAS) due to the accumulated recombinations 28 among well-defined haplotypes, the relatively high allele frequencies, access to a large collection of tissue 29 samples, and the large allelic effect size compared to human studies. The purpose of this study was to identify 30 genetic loci underlying elevated IOP using HS rats. Both male and female HS rats (N=1,812) were used in the 31 study. Genotyping-by-sequencing was used to obtain ~3.5M single nucleotide polymorphisms from each 32 individual. We performed a GWAS for the IOP phenotype using a linear mixed model and used permutation to 33 determine a genome-wide significance threshold. We also estimated SNP heritabilities. Our GWAS results 34 identified three genome-wide significant loci for elevated IOP on chromosomes 1, 5, and 16. These loci 35 contained 7 genes in total including Tyr, Grm5, Ctsc, Rab38, MGC94199, Plekhf2, and Csmd1. We also 36 mapped expression quantitative trait loci (eQTLs) in HS rat eye tissue and discovered a cis-eQTL for Ctsc 37 among our significant loci. Tyr is the only gene that has been previously associated with human IOP. This 38 study highlights the efficacy of HS rats for investigating the genetics of elevated IOP and identifying potential 39 candidate genes for future functional testing. In summary, GWAS using HS rats is a powerful method for 40 identifying genome regions that harbor variants responsible for the variation in quantitative traits, such as IOP. 41 Additional studies are ongoing to further narrow the list of candidate genes in these intervals.
2022-04-25 | GSE201236 | GEO
Project description:PurposeTo test for causality with regard to the association between blood pressure (BP) and intraocular pressure (IOP) and glaucoma.MethodsSingle nucleotide polymorphisms (SNPs) associated with BP were identified in a genome-wide association study (GWAS) meta-analysis of 526,001 participants of European ancestry. These SNPs were used to assess the BP versus IOP relationship in a distinct sample (n = 70,832) whose corneal-compensated IOP (IOPcc) was measured. To evaluate the BP versus primary open-angle glaucoma (POAG) relationship, additional Mendelian randomization (MR) analyses were conducted using published GWAS summary statistics.ResultsObservational analysis revealed a linear relationship between BP traits and IOPcc, with a +0.28 mm Hg increase in IOPcc per 10-mm Hg increase in systolic BP (95% confidence interval [CI], 0.26-0.29); for diastolic blood pressure (DBP) and pulse pressure (PP), these estimates were +0.41 mm Hg and +0.36 mm Hg, respectively. An inverse-variance weighted MR analysis did not support a causal relationship, as the estimated causal effect was +0.01 mm Hg IOPcc per 10-mm Hg increase in systolic blood pressure (SBP); +0.13 mm Hg IOPcc per 10-mm Hg increase in DBP; and +0.02 mm Hg IOPcc per 10-mm Hg increase in PP (all P > 0.05). With regard to the risk of POAG, MR analyse yielded causal effect estimate of odds ratio = 0.98 (95% CI, 0.92-1.04) per 10-mm Hg increase in SBP. Neither DBP nor PP demonstrated evidence of a causal effect on POAG.ConclusionsA range of different MR analysis methods provided evidence, in general, that the causal effect of BP on IOP (and POAG) was modest, or even zero. However, interpretation was complicated by SNPs associated with BP potentially having pleiotropic effects on IOP.
| S-EPMC9251815 | biostudies-literature
Project description:BackgroundPostoperative nausea and vomiting is common in patients receiving microvascular decompression. In the current study, we examined whether postoperative nausea and vomiting is associated with reduced intraocular pressure (IOP) after microvascular decompression, a measure that reflects intracranial pressure.MethodsThis is a prospective cohort study. Adult patients scheduled for microvascular decompression surgery for hemifacial spasm between January 2020 and August 2020 were eligible. IOP was measured immediately before anesthesia induction and 30 min after patients regained complete consciousness using non-contact tonometry. IOP reduction was defined by at least 1 mmHg decrease vs. preoperative baseline. The primary outcome was vomiting on postoperative day 1.ResultsA total of 103 subjects were enrolled. IOP was reduced in 56 (54.4%) subjects. A significantly greater proportion of patients with IOP reduction had vomiting on postoperative day 1 (51.8% (29/56) vs. 23.4% (11/47) in those without IOP reduction; p = 0.003). In the multivariate regression analysis, vomiting on postoperative day 1 was associated with female sex [odds ratio = 7.87, 95% CI: 2.35-26.32, p = 0.001] and IOP reduction [odds ratio = 2.93, 95% CI: 1.13-7.58, p = 0.027].ConclusionsIn patients undergoing microvascular decompression surgery, postoperative IOP reduction is associated with postoperative vomiting.Trial registrationChinese Clinical Trial Registry: ChiCTR2000029083 . Registered 13 January 2020.
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Project description:ObjectiveThis study aimed to explore the clinical characteristics of thyroid-associated ophthalmopathy (TAO) with hyperlipidemia and to identify the key lipid indicator.MethodsPatients with TAO were recruited to this study and divided into two groups based on the presence of hyperlipidemia. TAO patients with hyperlipidemia were further classified based on the type of hyperlipidemia. Basic and clinical information of the patients were collected, and comparisons between groups were carried out. Correlation analyses, regression analyses, and stratified analysis were performed to assess the correlations and relationship of the serum lipids with the ophthalmic indicators.ResultsA total of 273 patients with TAO were recruited, including 158 patients with hyperlipidemia and 115 patients without hyperlipidemia. Patients with hyperlipidemia, especially those with mixed hyperlipidemia, exhibited high intraocular pressure (IOP). Spearman's correlation analysis and partial correlation analysis showed that apolipoprotein E (ApoE) was positively related to IOP levels after controlling for confounding factors, including age, gender, BMI, smoking history, triiodothyronine (T3), and thyrotropin (thyroid-stimulating hormone, TSH). Moreover, multiple linear regression obtained a regression equation including ApoE, gender, age, and BMI and showed that elevated ApoE levels were associated with elevated IOP [β = 0.072, 95% confidence interval (CI) = 0.037-0.155, p = 0.030]. Stratified analysis highlighted the impact of ApoE on IOP in younger patients (≤48 years), female patients, patients with normal BMI (<24 kg/m2), and patients with a shorter course of ophthalmopathy (≤6 months).ConclusionOverall, higher IOP levels were observed in patients with hyperlipidemia, especially those with mixed hyperlipidemia. Notably, a higher ApoE was identified as an independent risk factor for higher IOP. This finding confirmed the close relationship between TAO and lipid metabolism and provides a new insight into the pathogenesis research and the long-term management of TAO.
| S-EPMC11634611 | biostudies-literature
Project description:PurposeThe purpose of this study was to examine the association of alcohol consumption with intraocular pressure (IOP) and glaucoma and to assess whether any associations are modified by a glaucoma polygenic risk score (PRS).MethodsCross-sectional analysis of data from the Canadian Longitudinal Study on Aging Comprehensive Cohort, consisting of 30,097 adults ages 45 to 85 years, was done. Data were collected from 2012 to 2015. Alcohol consumption frequency (never, occasional, weekly, and daily) and type (red wine, white wine, beer, liquor, and other) were measured by an interviewer-administered questionnaire. Total alcohol intake (grams/week) was estimated. IOP was measured in mm Hg using the Reichert Ocular Response Analyzer. Participants reported a diagnosis of glaucoma from a doctor. Logistic and linear regression models were used to adjust for demographic, behavioral, and health variables.ResultsDaily drinkers had higher IOP compared to those who never drank (β = 0.45, 95% confidence interval (CI) = 0.05, 0.86). An increase in total weekly alcohol intake (per 5 drinks) was also associated with higher IOP (β = 0.20, 95% CI = 0.15, 0.26). The association between total alcohol intake and IOP was stronger in those with a higher genetic risk of glaucoma (P for interaction term = 0.041). There were 1525 people who reported being diagnosed with glaucoma. Alcohol consumption frequency and total alcohol intake were not associated with glaucoma.ConclusionsAlcohol frequency and total alcohol intake were associated with elevated IOP but not with glaucoma. The PRS modified the association between total alcohol intake and IOP. Findings should be confirmed in longitudinal analyses.
| S-EPMC10327959 | biostudies-literature
Project description:Elevated intraocular pressure (IOP) is a major risk factor for glaucoma, a leading cause of blindness. IOP heritability has been estimated to up to 67%, and to date only 11 IOP loci have been reported, accounting for 1.5% of IOP variability. Here, we conduct a genome-wide association study of IOP in 69,756 untreated individuals of European, Latino, Asian, and African ancestry. Multiple longitudinal IOP measurements were collected through electronic health records and, in total, 356,987 measurements were included. We identify 47 genome-wide significant IOP-associated loci (P < 5 × 10-8); of the 40 novel loci, 14 replicate at Bonferroni significance in an external genome-wide association study analysis of 37,930 individuals of European and Asian descent. We further examine their effect on the risk of glaucoma within our discovery sample. Using longitudinal IOP measurements from electronic health records improves our power to identify new variants, which together explain 3.7% of IOP variation.
| S-EPMC5727399 | biostudies-literature