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Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.

ABSTRACT: PURPOSE: Previous studies have described a possible association between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, the association between EX and branch retinal vein occlusion (BRVO) remains unclear. Because slit-lamp examination may overlook latent deposits of exfoliation materials, an ocular biopsy is usually needed for a precise diagnosis. We evaluated a possible association between EX and BRVO using lysyl oxidase-like 1 (LOXL1) gene variants as alternative markers for EX. METHODS: Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls. RESULTS: The rs1048661 variant differed between the BRVO and CT groups in allelic and genotypic frequencies (p=0.0137 and p=0.0203, respectively). Subgroup analysis, compared to the CT group, showed that BRVO EX+ had significantly different allelic and genotypic frequencies of rs1048661 (p=0.00011 and p=0.000189, respectively), while BRVO EX- did not (p=0.175 and p=0.288, respectively). The frequencies of rs3825942 and rs2165241 did not differ between the BRVO and CT groups. CONCLUSIONS: No association was found between BRVO and EX if LOXL1 variants were used as disease markers for clinically undetectable EX. The results suggested that LOXL1 variants, well established markers for EX, are not likely genetic markers for BRVO in Japanese subjects.

SUBMITTER: Hara K

PROVIDER: S-EPMC3244486 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature

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Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.

Hara Katsunori K Akahori Masakazu M Tanito Masaki M Kaidzu Sachiko S Ohira Akihiro A Iwata Takeshi T

Molecular vision 20111217

<h4>Purpose</h4>Previous studies have described a possible association between exfoliation syndrome (EX) and various ocular and systemic vascular disorders; however, the association between EX and branch retinal vein occlusion (BRVO) remains unclear. Because slit-lamp examination may overlook latent deposits of exfoliation materials, an ocular biopsy is usually needed for a precise diagnosis. We evaluated a possible association between EX and BRVO using lysyl oxidase-like 1 (LOXL1) gene variants ...[more]

PMID: 22194657

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Project description:PurposeBranch retinal vein occlusion (BRVO) is a common vision-threatening disease. Compression of the underlying retinal vein due to increased rigidity of the crossing artery has been implicated in the pathogenesis of BRVO. Among others, arterial hypertension and hypercholesterolemia, both of which contribute to atherogenesis, have been identified as risk factors. Atherosclerosis itself is a chronic low-grade inflammatory disease with a distinct pro-inflammatory cytokine pattern. In addition to their role in atherogenesis, some cytokines have been shown to exert procoagulatory effects, and may thus contribute to the development of BRVO by a second mechanism. Gene polymorphisms affecting the expression of inflammation-related cytokines are therefore candidates as potential risk factors for BRVO. The purpose of the present study was to investigate hypothesized associations between cytokine gene polymorphisms and the presence of BRVO.MethodsThe study comprised 398 patients with BRVO and 355 control subjects. Using 5'exonuclease assays (TaqMan), genotypes of the following functional single nucleotide polymorphisms were determined: interleukin 1 beta (IL1B) -511C>T, interleukin 1 receptor antagonist (IL1RN) 1018T>C, interleukin 4 (IL4) -584C>T, interleukin 6 (IL6) -174G>C, interleukin 8 (IL8) -251A>T, interleukin 10 (IL10) -592C>A, interleukin 18 (IL18) 183A>G, tumor necrosis factor (TNF) -308G>A, monocyte chemoattractant protein 1 (CCL2) -2518A>G, and RANTES (CCL5) -403G>A.ResultsNeither genotype distributions nor allele frequencies of any of the investigated polymorphisms differed significantly between BRVO patients and controls (p>0.05). Arterial hypertension was found to be significantly more prevalent in BRVO patients than in controls (p<0.001). In a logistic regression analysis presence of arterial hypertension was associated with an odds ratio of 3.33 (95% confidence interval: 2.42-4.57) for BRVO.ConclusionsAs none of the investigated gene variants was significantly more prevalent in BRVO patients than among control subjects, our data suggest that these polymorphisms themselves are unlikely major risk factors for BRVO.

Project description:BackgroundTo study the changes of retinal vascular density (VD), retinal thickness (RT), and their correlations with visual acuity (VA) in branch retinal vein occlusion (BRVO) patients with retinal atrophy after resolution of macular oedema (MO).MethodsThis is a retrospective study consisting of 46 patients diagnosed with BRVO at Beijing Hospital from 2015 to 2019. Patients' 46 affected eyes and 39 fellow eyes were included. The affected eyes were further divided into the atrophy group and the nonatrophy group. Optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) images obtained when MO completely resolved after treatment with ranibizumab were analyzed. We quantitatively measured foveal avascular zone (FAZ) parameters, the disruption extent of ellipsoid zone (EZ), RT, and VD of superficial vascular complex (SVC), and deep vascular complex (DVC) in central fovea and the minimal-VD quadrant. Paired t-tests, independent t-tests, Mann-Whitney U tests, Wilcoxon tests, Pearson correlation analyses, Spearman correlation analyses, and single and multiple linear regression models were adopted.ResultsCompared with nonatrophy eyes, the minimal-VD quadrantal (quadrantal for short) SVC-VD (25.76 ± 4.57% versus 36.21 ± 6.47%, P < 0.001) and quadrantal DVC-VD (27.72 (17.23) % versus 38.95 (11.05) %, P = 0.001) of atrophy eyes decreased significantly. Quadrantal SVC-VD and quadrantal DVC-VD were strongly correlated with quadrantal full RT (r = 0.763 and 0.698, both P < 0.001). The disruption length of EZ was significantly correlated with quadrantal full RT (r = -0.406, P = 0.005) and quadrantal SVC-VD (r = -0.298, P = 0.044). In multiple linear regression analysis, the disruption length of EZ and VA before treatment and age showed significant correlations with VA with complete resolution of MO (P = 0.020, 0.033, and 0.002).ConclusionsThe retinal VD on the affected area correlates well with the corresponding full RT when BRVO-MO completely resolves, suggesting that VD may predict the final RT. Severe decrease in VD may result in retinal atrophy, which may cause VA loss indirectly with the intermediate influencing factor of EZ defects.

Dataset Information

Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.

Publications

Analysis of LOXL1 gene variants in Japanese patients with branch retinal vein occlusion.

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