Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.

ABSTRACT:

Aim

To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).

Methods

Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.

Results

Although the frequency of APOE -219 GG genotype was higher in POAG group (13.3%) than in control group (6.6%), this finding was not statistically significant (P=0.09). In glaucoma patients carrying GG genotype, mean linear C/D ratio was higher and progression was more compared to glaucoma patients with GT genotype.

Conclusion

APOE -219 T>G polymorphism does not seem to be a risk factor for the presence of glaucoma, but might play a role in deterioration of the disease, which needs further evaluation.

SUBMITTER: Saglar E

PROVIDER: S-EPMC4067653 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Association of apolipoprotein E-219T>G promoter polymorphism with primary open angle glaucoma in Turkish population.

Saglar Emel E Bozkurt Banu B Irkec Murat M

International journal of ophthalmology 20140618 3

<h4>Aim</h4>To investigate the association between apolipoprotein E (APOE) -219 T>G promoter polymorphism and primary open angle glaucoma (POAG).<h4>Methods</h4>Patients and healthy subjects were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Genotype/allele frequencies were compared between 122 healthy subjects and in 75 POAG patients using Chi-square test.<h4>Results</h4>Although the frequency of APOE -219 GG genotype was higher in POAG group (13. ...[more]

PMID: 24967185

Similar Datasets

Association of LOXL1 gene polymorphisms with exfoliation syndrome/glaucoma and primary open angle glaucoma in a Turkish population.

Project description:PURPOSE: To investigate the association of lysyl oxidase like 1 (LOXL1) variants with exfoliation syndrome (XFS), exfoliation glaucoma (XFG), and primary open angle glaucoma (POAG) in a Turkish population. METHODS: Two LOXL1 single nucleotide polymorphisms (SNPs), rs1048661 (R141L) and rs3825942 (G153D), were analyzed in 300 Turkish patients (100 patients with XFS, 100 patients with XFG, 100 patients with POAG) and 100 control subjects. RESULTS: The T allele of rs1048661 was underrepresented in patients with XFS (odds ratio [OR]=0.334, 95% confidence interval [CI]: 0.198-0.564, p=2.54 × 10(-5)) and XFG (OR=0.366, 95% CI: 0.219-0.611, p=8.56 × 10(-5)) compared to the control subjects. None of the patients with XFS or XFG had the A allele of rs3825942, whereas 16% of the control subjects had that variant (OR=0.025, 95% CI: 0.003-0.188, p=3.69×10(-9)). No association was observed between the SNPs studied and POAG. By using logistic regression analysis, the effect of rs1048661 remained significant (p=8.45 × 10(-8)) after controlling for the effect of rs3825942, whereas rs3825942 was not significant with conditioning on rs1048661. Female gender was protective against the disease controlling with the effect of the two SNPs (OR=0.527, 95% CI: 0.358-0.776, p=0.001). CONCLUSIONS: The findings of the current study indicate that in a logistic regression analysis model the T allele of rs1048661 is the most important risk-modifying factor for the development of XFS and XFG. Our results also confirm in a Turkish population the findings of previous reports describing the association between LOXL1 polymorphisms and XFS/XFG but not with POAG. The allele and genotype distribution in this cohort appear to be similar to those of Caucasians.

| S-EPMC3559092 | biostudies-literature

Association of polymorphisms in APOE, p53, and p21 with primary open-angle glaucoma in Turkish patients.

Project description:PurposeTo investigate the association between Apolipoprotein E (APOE), tumor suppressor protein p53 (p53), and cyclin-dependent kinase inhibitor 1A (p21) genes and primary open-angle glaucoma (POAG) in a cohort of Turkish subjects.MethodsSeventy-five POAG patients (49 women, 26 men) and 119 healthy subjects (67 women, 52 men) were genotyped with polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). Allele and genotype frequencies between healthy subjects and glaucoma patients were compared by the chi(2) test, and intraocular pressure (IOP), cup/disc ratio (C/D) and visual field indices (MD and PSD) were compared among different APOE, p53, and p21 genotypes in POAG group. A p value <0.05 was considered as statistically significant.ResultsThe mean ages were 63.8+/-9.5 and 61.8+/-10.2 years in POAG and control groups, respectively (p=0.18). There were no significant differences in the distribution of APOE, p53, and p21 genotypes between the healthy subjects and POAG patients (p=0.38, p=0.12, and p=0.2, respectively). There were no significant differences in maximum IOP, MD, and PSD values among different groups of p53 and p21 genotypes (p>0.05). POAG subjects with the epsilon2epsilon3 genotype had a worse PSD value (median=2.2) than those with the epsilon3epsilon4 genotype (median=1.77; p=0.01) and POAG subjects with the epsilon3epsilon3 genotype had worse MD and PSD values (median= -7.4 and 3.4, respectively) than those with the epsilon3epsilon4 genotype (median= -4.1 and 1.77, respectively; p=0.034 and 0.028, respectively).ConclusionsOur study found no link between polymorphisms in APOE, p53, and p21 genes and POAG in Turkish patients, although a larger sample is required to elucidate the role of these polymorphisms in the pathogenesis and course of glaucoma.

| S-EPMC2704913 | biostudies-literature

Association transient receptor potential melastatin channel gene polymorphism with primary open angle glaucoma.

Project description:PurposeGenetic factors are shown to have a role in the development of primary open angle glaucoma (POAG). The aim of this study was to determine the effects of genetic polymorphisms of transient receptor potential melastatin (TRPM) channel genes on the risk of POAG in a Turkish population.MethodsGenomic DNA was extracted from the leukocytes of the peripheral blood, and 26 single nucleotide polymorphisms in the TRPM channel genes were analyzed in 179 patients with POAG and in 182 healthy controls of similar age by using the BioMark HD dynamic array system.ResultsThere were marked changes in the genotype (TT, 26.8%; CT, 66.7%; CC, 6.5%) and allele (T, 60.1%; C, 39.9%) frequencies for the TRPM5 gene rs34551253 (Ala456Thr, in exon 9) polymorphism in patients when compared to the controls (TT, 11.3%; CT, 74.6%; CC, 14.1%, p = 0.0009; T, 48.6%; A, 51.4%, p = 0.0063). However, no associations with the other 25 polymorphisms studied were found.ConclusionsThis is the first study to examine the involvement of TRPM channel gene variations in the risk of incident POAG. This study demonstrated that the TRPM5 gene rs34551253 (Ala456Thr) polymorphism may be associated with increased risk of developing POAG in the Turkish population.

| S-EPMC3762560 | biostudies-literature

Lack of association between polymorphism rs540782 and primary open angle glaucoma in Saudi patients.

Project description:To investigate whether polymorphism rs540782 on chromsome 1, in close proximity to the Zona Pellucida Glycoprotein 4 (ZP4) gene, is a risk factor for primary open angle glaucoma (POAG).The study genotyped 92 unrelated POAG cases and 95 control subjects from Saudi Arabia using Taq-Man® assay.The genotype frequency distribution did not deviate significantly from the Hardy-Weinberg equilibrium (p?>?0.05). Overall, both the genotype and allele frequencies were not significantly different between cases and controls. The minor 'C' allele frequency was 49.4%, which was comparable to the Japanese population and higher than the Indian and Afro-Caribbean populations. Similarly, no significant association was found between genotypes and systemic diseases and health awareness/behavior domain variables. Importantly, glaucoma specific indices, such as intraocular pressure, cup/disc ratio and number of anti-glaucoma medication, also showed no statistically significant effect of genotypes within POAG cases.Polymorphism rs540782 is not a risk factor for POAG in the Saudi cohort.

| S-EPMC5290620 | biostudies-literature

Association of MYOC and APOE promoter polymorphisms and primary open-angle glaucoma: a meta-analysis.

Project description:BackgroundPrimary open-angle glaucoma (POAG) is the most common form of glaucoma with a genetic predisposition. The relationship between polymorphisms in MYOC or APOE promoter region and POAG has been addressed in many case-control studies, but the published results were not consistent.MethodsA meta-analysis assessing the association between five single nucleotide polymorphisms (SNPs) (in MYOC promoter: rs12035719 and rs2075648; in APOE promoter: rs405509, rs769446 and rs449647) and the risk of POAG was performed based on included studies from literature research. In fixed effect model or random effect model, the Mantel-Haenszel (M-H) pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were used to evaluate the genetic association. Stratification analysis was also conducted to test the association within Asian or Caucasian populations.ResultsTwenty five case-control studies within multiple populations were identified and no publish bias was observed. Significant association was detected between POAG risk and MYOC rs2075648 in Caucasian (GA+AA vs. GG, OR=0.587, 95% CI=0.437-0.788, P < 0.001). For other SNPs and in other ethnic populations, no statistic evidence was detected for significant association between them and the development of POAG.ConclusionsThis meta-analysis suggested a genetic association between one of MYOC polymorphism (rs2075648) and the risk of POAG only in Caucasian population. The significant heterogeneity for this locus might imply the different POAG genetic basis among different populations.

| S-EPMC4402783 | biostudies-literature

Metabolome-Wide Association Study of Primary Open Angle Glaucoma.

Project description:PurposeTo determine if primary open-angle glaucoma (POAG) patients can be differentiated from controls based on metabolic characteristics.MethodsWe used ultra-high resolution mass spectrometry with C18 liquid chromatography for metabolomic analysis on frozen plasma samples from 72 POAG patients and 72 controls. Metabolome-wide Spearman correlation was performed to select differentially expressed metabolites (DEM) correlated with POAG. We corrected P values for multiple testing using Benjamini and Hochberg false discovery rate (FDR). Hierarchical cluster analysis (HCA) was used to depict the relationship between participants and DEM. Differentially expressed metabolites were matched to the METLIN metabolomics database; both DEM and metabolites significantly correlating with DEM were analyzed using MetaboAnalyst to identify metabolic pathways altered in POAG.ResultsOf the 2440 m/z (mass/charge) features recovered after filtering, 41 differed between POAG cases and controls at FDR = 0.05. Hierarchical cluster analysis revealed these DEM to associate into eight clusters; three of these clusters contained the majority of the DEM and included palmitoylcarnitine, hydroxyergocalciferol, and high-resolution METLIN matches to sphingolipids, other vitamin D-related metabolites, and terpenes. MetaboAnalyst also indicated likely alteration in steroid biosynthesis pathways.ConclusionsGlobal ultrahigh resolution metabolomics emphasized the importance of altered lipid metabolism in POAG. The results suggest specific metabolic processes, such as those involving palmitoylcarnitine, sphingolipids, vitamin D-related compounds, and steroid precursors, may contribute to POAG status and merit more detailed study with targeted methods.

| S-EPMC4525636 | biostudies-literature

Primary open angle glaucoma in a Caucasian population is associated with the p53 codon 72 polymorphism.

Project description:Apoptosis has been implicated as the mechanism for retinal ganglion cell death in primary open-angle glaucoma (POAG), a complex neurodegenerative disease. There have been inconsistent reports regarding increased risk of POAG and a polymorphism (Arg72Pro) within the tumor suppressor gene, p53. The goal of this study was to examine the role of this polymorphism in susceptibility to POAG in a Caucasian population from the United States.We generated genotypes in 191 unrelated Caucasian POAG patients and 167 unrelated Caucasian controls for the following polymorphisms within p53: rs1042522 (Arg72Pro), rs17878362 (16 bp Ins/Del), and rs1800371 (Pro47Ser) by PCR amplification followed by restriction digestion and sequence analysis.There was a significant difference in genotypic frequencies for rs1042522 (Arg72Pro) between POAG patients and controls (chi(2)= 9.56, p=0.008). Individuals who were homozygous for the arginine allele have a 1.9 fold significantly increased risk of developing glaucoma (95%CI: 1.16-2.82, p=0.01). Interestingly, we found that the frequency of the arginine allele was even higher in the normal-tension glaucoma (NTG) subtype compared to high-tension POAG (0.81 versus 0.76).Our preliminary results indicate that the arginine variant of rs1042522 within p53 is associated with increased risk of POAG. This variant has increased apoptotic potential, thus the retinal ganglion cells in carriers of the arginine allele may have greater susceptibility to apoptosis.

| S-EPMC2751801 | biostudies-literature

Primary open-angle glaucoma genes.

Project description:A substantial fraction of glaucoma has a genetic basis. About 5% of primary open angle glaucoma (POAG) is currently attributed to single-gene or Mendelian forms of glaucoma (ie glaucoma caused by mutations in myocilin or optineurin). Mutations in these genes have a high likelihood of leading to glaucoma and are rarely seen in normal subjects. Other cases of POAG have a more complex genetic basis and are caused by the combined effects of many genetic and environmental risk factors, each of which do not act alone to cause glaucoma. These factors are more frequently detected in patients with POAG, but are also commonly observed in normal subjects. Additional genes that may be important in glaucoma pathogenesis have been investigated using quantitative traits approaches. Such studies have begun to identify genes that control the magnitude of important quantitative features of glaucoma that may also be important risk factors for POAG, such as central corneal thickness. Each of these different approaches to study glaucoma genetics is providing new insights into the pathogenesis of POAG.

| S-EPMC3171270 | biostudies-literature

Blindness in glaucoma: primary open-angle glaucoma versus primary angle-closure glaucoma-a meta-analysis.

Project description:AimTo estimate the risk of blindness with primary angle-closure glaucoma (PACG) compared to primary open-angle glaucoma (POAG) in those population-based studies that reported blindness rates for both PACG and POAG.MethodA systematic search was performed in PubMed for articles published in English between 2000 and 2020 reporting the prevalence of POAG as well as PACG among various ethnic populations. A study was included if it was (1) population-based (2) had published prevalence and blindness rates for both PACG and POAG in the same cohort. (3) Glaucoma was defined as per the International Society for Geographical and Epidemiological Ophthalmology (ISGEO) criteria. The proportion of blindness for both POAG and PACG for each study and the cumulative proportion taking all the studies were calculated.ResultsWe included 23 studies with 78,434 participants. POAG was diagnosed in 1702 persons with 151 (8.9%) blind. There were 724 cases of PACG with 196 (27.0%) blind. The risk ratio of blindness in PACG to POAG varied from 0.73 to 10.6 among the studies. The cumulative risk ratio was 2.39 (95% confidence interval (CI); 1.99, 2.87). Risk ratios for studies including visual field restriction while defining blindness were similar to studies that did not (1.92 vs 2.64, P = 0.11). Risk ratios were also similar for studies that used greater than 2 instead of 3 or more quadrants of iridotrabecular contact to define angle closure (2.79 vs 2.25).ConclusionPrimary angle-closure disease is more likely to be associated with blindness.

| S-EPMC9582001 | biostudies-literature

Association between IL1A and IL1B polymorphisms and primary open angle glaucoma in a Brazilian population.

Project description:AbstractThe aim of this study was to investigate the association of five polymorphisms in the IL1A and IL1B genes in Brazilian patients with primary open angle glaucoma (POAG). A case–control study, including 214 unrelated POAG patients and 187 healthy individuals, was conducted to evaluate the frequency of polymorphisms in the IL1A and IL1B genes. Ophthalmic evaluation was performed and genomic DNA was obtained from all participants. Five single nucleotide polymorphisms (SNPs): IL1A (–889C/T: rs1800587:C > T, +4845G/T:rs17561G>T) and IL1B (–31C/T:rs1143627:T > C, –511C/T:rs16944C>T and +3954C/T:rs1143634:C > T) were genotyped through direct sequencing. The association of individual SNPs was tested using logistic regression. There was an association between the –31C/T and –511 C/T polymorphisms in the IL1B gene with POAG (p = 0.002 and p = 0.009, respectively). High linkage disequilibrium was observed between the –31C/T and –511C/T polymorphisms. The statistical analysis showed that the T/C haplotype (–31/–511) in the IL1B gene is more frequent in controls (p = 0.011) and the C/T haplotype (–31/–511) is more common in POAG patients (p = 0.018). Among POAG cases, the genotypic distribution of the –31C/T and –511 C/T SNPs was significantly different in patients who underwent anti-glaucomatous surgery compared to patients without surgery (p = 0.016 and 0.023, respectively). There was no statistically significant difference for the remaining SNPs between POAG patients and controls. In conclusion, the C allele of the –31C/T and the T allele of the –511C/T polymorphisms in the IL1B gene may represent a “risk haplotype” for the development of POAG in Brazilian individuals. Further studies with larger cohorts of patients are necessary to substantiate these findings.

| S-EPMC6434462 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data