Dataset Information

Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.

ABSTRACT: The formation of primary angle closure (PAC) and primary angle closure glaucoma (PACG) is regulated by a tissue remodeling pathway that plays a critical role in eye development. MicroRNAs (miRNAs) are powerful gene expression regulators and may exert their effects on tissue remodeling genes. This study investigated the associations between gene variants (single-nucleotide polymorphism, SNP) in miRNA binding sites in the 3'-UTR region of genes involved in eye development and PAC.The sample consisted of 232 PAC subjects and 306 controls obtained from a population-based cohort in the Funing District of Jiangsu, China. The markers include 9 SNPs in the COL11A1, PCMTD1, ZNRF3, MTHFR, and ALPPL2 genes respectively. SNP genotyping was performed with a TaqMan-MGB probe using an RT-PCR system.Of the 9 SNPs studied, the frequency of the minor A allele of COL11A1 rs1031820 was higher in the PAC group than in the control group in allele analysis (p = 0.047). The genotype analysis indicated that MTHFR rs1537514 is marginally associated with PAC (p = 0.014). The CC genotype of rs1537514 was present solely in the PAC group. However, the differences lost significance after Bonferroni correction.Our study reveals a possible association of COL11A1 and MTHFR with PAC in the Han Chinese population. These results will contribute to an improved understanding of the genetic basis of PACG.

SUBMITTER: Shi H

PROVIDER: S-EPMC5100968 | biostudies-literature | 2016

REPOSITORIES: biostudies-literature

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Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.

Shi Haihong H Zhang Junfang J Zhu Rongrong R Hu Nan N Lu Hong H Yang Mei M Qin Bai B Shi Jian J Guan Huaijin H

PloS one 20161108 11

<h4>Purpose</h4>The formation of primary angle closure (PAC) and primary angle closure glaucoma (PACG) is regulated by a tissue remodeling pathway that plays a critical role in eye development. MicroRNAs (miRNAs) are powerful gene expression regulators and may exert their effects on tissue remodeling genes. This study investigated the associations between gene variants (single-nucleotide polymorphism, SNP) in miRNA binding sites in the 3'-UTR region of genes involved in eye development and PAC.< ...[more]

PMID: 27824919

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Project description:ObjectiveTo determine longitudinal changes in angle configuration in the eyes of primary angle-closure suspects (PACS) treated by laser peripheral iridotomy (LPI) and in untreated fellow eyes.DesignLongitudinal cohort study.ParticipantsPrimary angle-closure suspects aged 50 to 70 years were enrolled in a randomized, controlled clinical trial.MethodsEach participant was treated by LPI in 1 randomly selected eye, with the fellow eye serving as a control. Angle width was assessed in a masked fashion using gonioscopy and anterior segment optical coherence tomography (AS-OCT) before and at 2 weeks, 6 months, and 18 months after LPI.Main outcome measuresAngle width in degrees was calculated from Shaffer grades assessed under static gonioscopy. Angle configuration was also evaluated using angle opening distance (AOD250, AOD500, AOD750), trabecular-iris space area (TISA500, TISA750), and angle recess area (ARA) measured in AS-OCT images.ResultsNo significant difference was found in baseline measures of angle configuration between treated and untreated eyes. At 2 weeks after LPI, the drainage angle on gonioscopy widened from a mean of 13.5° at baseline to a mean of 25.7° in treated eyes, which was also confirmed by significant increases in all AS-OCT angle width measures (P<0.001 for all variables). Between 2 weeks and 18 months after LPI, a significant decrease in angle width was observed over time in treated eyes (P<0.001 for all variables), although the change over the first 5.5 months was not statistically significant for angle width measured under gonioscopy (P = 0.18), AOD250 (P = 0.167) and ARA (P = 0.83). In untreated eyes, angle width consistently decreased across all follow-up visits after LPI, with a more rapid longitudinal decrease compared with treated eyes (P values for all variables ≤0.003). The annual rate of change in angle width was equivalent to 1.2°/year (95% confidence interval [CI], 0.8-1.6) in treated eyes and 1.6°/year (95% CI, 1.3-2.0) in untreated eyes (P<0.001).ConclusionsAngle width of treated eyes increased markedly after LPI, remained stable for 6 months, and then decreased significantly by 18 months after LPI. Untreated eyes experienced a more consistent and rapid decrease in angle width over the same time period.

Project description:PurposeTo assess differences in ocular biometric measurements between primary angle closure suspect (PACS) eyes and primary angle closure (PAC) and primary angle closure glaucoma (PACG) eyes.DesignCross-sectional study.ParticipantsPatients with primary angle closure disease (PACD) were identified from the Chinese American Eye Study, a population-based study in Los Angeles, California.MethodsPatients previously underwent complete ocular examinations including gonioscopy and anterior segment (AS)-OCT imaging with the Tomey CASIA SS-1000 (Tomey Corporation). Four AS-OCT images were analyzed per eye. Averaged and sectoral measurements of biometric parameters, including angle recess area (ARA), trabecular iris space area (TISA), iris area, iris curvature, lens vault, anterior chamber depth, and anterior chamber area, were compared between early PACD (PACS) and late PACD (PAC and PACG) groups. Machine learning classifiers that attempt to differentiate between early and late PACD eyes were developed by applying different regression algorithms to a training dataset of sectoral parameter measurements. Classifier performance was assessed using an independent test dataset.Main outcome measuresAveraged and sectoral measurements of biometric parameters.ResultsTwo hundred ninety-eight eyes (231 PACS, 67 PAC or PACG) of 298 patients were analyzed. No difference was found in averaged biometric measurements between the 2 groups before (P > 0.09) or after (P > 0.14) adjusting for age and gender. Differences (P < 0.04) between the 2 groups were found for 11 sectoral parameter measurements, including ARA and TISA. The performance of machine learning classifiers developed using sectoral parameter measurements was poor on the independent test dataset for all regression algorithms (area under the receiver operating characteristic curve, 0.529-0.628).ConclusionsDifferences in biometric measurements between subtypes of PACD eyes were small in a population-based cohort of Chinese Americans. The poor performance of classifiers based on these measurements highlights potential challenges of developing quantitative methods to detect late PACD.

Dataset Information

Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.

Publications

Primary Angle Closure and Sequence Variants within MicroRNA Binding Sites of Genes Involved in Eye Development.

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