Xueli Chen

Fudan University, Shanghai, Shanghai Shi, China

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Publications (12)24.47 Total impact

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    ABSTRACT: Purpose: To investigate the association of PLEKHA7 and COL11A1 with primary angle closure glaucoma, as well as acute and chronic subphenotype, in a Han Chinese population. Methods: 984 cases, including 606 primary angle closure glaucoma (PACG) and 378 primary angle closure (PAC), and 922 normal controls were recruited. 12 single nucleotide polymorphisms (SNPs) (rs1676486, rs3753841, rs12138977, rs2126642, rs2622848, rs216489, rs1027617, rs366590, rs11024060, rs6486330, rs11024097, and rs11024102) in the PLEKHA7 gene and COL11A12 gene were genotyped. Distributions of allele frequencies were compared between cases and controls as well as in patient subgroups with or without acute attacks. Results: 4 of the 12 SNPs, including rs1676486 (P=0.0060) and rs12138977 (P=0.028) in COL11A1, as well as rs216489 (P=0.0074) and rs11024102 (P=0.038) in PLEKHA7 were found to have a statistically significant association with PAC/PACG. In the subgroup analysis, 6 out of 12 SNPs (rs1676486, rs3753841, rs12138977, rs216489, rs11024060, and rs11024102) showed statistically significant differences between acute PAC/PACG cases and controls. However, none of them showed statistically significant differences between chronic PAC/PACG cases and controls. Conclusions: Our study suggests that rs1676486 and rs12138977 in COL11A1 as well as rs216489 and rs11024102 in PLEKHA7 are associated with an increased risk of PAC/PACG in the Han Chinese population, supporting prior reports of the association of COL11A1 and PLEKH7 with angle closure glaucoma. Both COL11A1 and PLEKHA7 were shown to confer significant risk for acute PAC/PACG. Further work is necessary to confirm the importance of COL11A1 and PLEKHA7 in the pathogenesis of glaucoma.
    Investigative ophthalmology & visual science. 05/2014;
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    ABSTRACT: The aim of the present work was to investigate CYP1B1 gene mutations in patients of Han Chinese ethnicity with primary congenital glaucoma (PCG), and explore the clinical characteristics associated with operative effects. Peripheral blood genomic DNA was extracted from patients with PCG to act as a PCR template. CYP1B1 mutations were identified from the amplified coding sequences of CYP1B1. A total of 238 patients, including 116 patients described previously, were used to examine the CYP1B1 mutation frequency. Of the 238 patients, 192 patients (306 eyes) who underwent first operative treatment from January 1991 to September 2007 in the Eye, Ear, Nose & Throat Hospital of Fudan University were analysed to investigate the relationship between clinical characteristics (including CYP1B1 mutation status) and surgical effect via statistical analyses (multivariate logistic regression and Cox regression). The frequency of CYP1B1 mutation carriers in Chinese patients with PCG is 17.2%, and nine novel CYP1B1 mutations were discovered. The median of onset age for patients with CYP1B1 mutations (2 months) is earlier than in patients without mutations (6 months). We identified that the mutant CYP1B1 gene, as well as poorer corneal transparency, was associated with better surgical outcome. Patients with CYP1B1 mutations tend to have a higher operative success rate in terms of better intraocular pressure control effect. The combination of the CYP1B1 genotype (with or without mutations) and preoperative corneal opacity score can partially predict the outcome of PCG surgery.
    The British journal of ophthalmology 11/2013; · 2.92 Impact Factor
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    ABSTRACT: PURPOSE: To determine the effect of travoprost 0.004% on Schlemm's canal (SC) in healthy human eyes using Fourier-domain optical coherence tomography (FD-OCT). METHODS: Twelve healthy volunteers were recruited for a double-blind, placebo-controlled, randomized, and paired comparison study. Right eyes of subjects were randomly assigned to receive either travoprost 0.004% or placebo; the contralateral eye received the other treatment. FD-OCT imaging of SC and measurements of intraocular pressure (IOP) were carried out before and at 1, 2, 4, 6, 8, 12, 24, 36, 48, 60, 72 and 84 hours after eye drop instillation. Results: After instillation of travoprost eye drops, IOP gradually reduced, and the SC lumens expanded, while those values remained unchanged in placebo treated eyes. At 8 hours after the travoprost administration, the mean SC area increased 90.30% and 90.20%, respectively, in nasal and temporal quadrant of the treated eyes as compared to the placebo group. The SC area and IOP showed a similar pattern of changes at most time points examined. In travoprost-treated eyes, a statistically significant correlation between SC area and IOP is observed (r=-0.2817; p=0.0004). Measurements of the SC area showed sufficient repeatability and reproducibility. Conclusions: SC can be noninvasively imaged and quantitatively assessed in the living healthy human eye by FD-OCT. Travoprost treatment leads to SC lumen expansion accompanied by a drop of IOP in the healthy eye, likely as a result of the enhancement of pressure sensitive trabecular meshwork outflow induced by travoprost.
    Investigative ophthalmology & visual science 01/2013; · 3.43 Impact Factor
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    ABSTRACT: To identify familial aggregation of primary open angle glaucoma (POAG) in first-degree relatives in Shanghai, China. This was a prospective case-control study. First-degree relatives of 113 POAG patients and 119 normal controls underwent a standardized ophthalmic examination. Each participant was diagnosed as normal, glaucoma suspect or glaucoma. The prevalence of glaucoma and glaucoma suspect in each group was calculated, and the odds ratio (OR) and 95% confidence interval (CI) for family history were estimated using the Generalized Estimating Equations model. Of 531 first-degree relatives in the case group, 67 (12.62%) were identified to have POAG, a rate eight times higher than that of the control group (8 of 526, 1.52%). In family units, the prevalence OR value of glaucoma was 8.77 (95% CI: 3.73-20.62). The effect of family history on parents, siblings, and offspring of probands was statistically significant, with OR values of 6.92 (95% CI: 1.90-25.18), 11.29 (95% CI: 3.63-35.11), and 11.35 (95% CI: 1.69-76.21), respectively. In the case of glaucoma suspect, a significant effect was found for both family units (OR 5.60; 95% CI: 1.15-27.21) and offspring (10.83 OR; 95% CI: 1.34-87.73). In Shanghai, relatives of glaucoma patients have a strongly increased risk of glaucoma, and priorities for glaucoma screening should target this population. The study demonstrates that familial aggregation of POAG transcends racial and cultural boundaries.
    Molecular vision 01/2013; 19:1859-65. · 1.99 Impact Factor
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    ABSTRACT: Pathological myopia is a refractive error that can result in legal blindness and is prevalent in China. A number of genomic loci have been associated with pathological myopia, but only a few have been validated. This study further evaluated the association of polymorphisms in the CTNND2 gene and the 11q24.1 genomic region with pathological myopia. Both regions had previously been implicated in carrying susceptibility genes for this eye disorder. Genotypic and association analyses were performed on 24 single-nucleotide polymorphisms (SNPs) in the CTNND2 and 11q21.1 genomic regions of 321 subjects with pathological myopia and 310 control subjects with normal vision using matrix-assisted laser desorption/ionization-time of flight mass spectrometry. Allele and genotype frequency analyses found that the distribution of variants of the SNP rs1479617 located in the CTNND2 gene significantly differed between the pathological myopia and control groups. Haplotype linkage analysis identified 2 genomic blocks in 11q24.1 that were independently associated with pathological myopia. Specific polymorphisms in the CTNND2 gene and 11q24.1 genomic region were found to be significantly associated with pathological myopia in this Chinese population, further supporting the idea that these genomic regions carry susceptibility loci for this disease.
    Ophthalmologica 06/2012; 228(2):123-9. · 1.41 Impact Factor
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    ABSTRACT: To investigate dry eye disease (DED) and risk factors in patients with depressive or anxiety disorders at a psychiatric clinic in China. Cross-sectional study. Subjects (≥16 years) who had depressive or anxiety disorders were evaluated with history, questionnaires (Self-rating Anxiety Scale, Self-rating Depression Scale, and Ocular Surface Disease Index), and eye examination. There were 472 psychiatric patients in the study, including 176 patients (37%) with depression, 170 patients (36%) with generalized anxiety disorder, 60 patients (13%) with depression and anxiety disorder, 55 patients (12%) with obsessive-compulsive disorder, and 11 patients (2%) with panic disorder. DED was present in 283 patients (60%). Compared with patients who did not have DED, patients with DED were significantly older, had longer duration of psychiatric disease and use of antianxiety or antidepressant medication, and more frequently were using a selective serotonin reuptake inhibitor (SSRI). Logistic regression analysis showed that older age, duration of psychiatric disorder, and use of an SSRI were significant independent predictors of the presence of DED. Older age, Self-rating Anxiety Scale >52, and use of tricyclic antidepressants were significant independent predictors of worse vision-targeted health-related quality of life (higher Ocular Surface Disease Index). DED is frequent in patients with depressive and anxiety disorders, especially patients who are older, have longer duration of psychiatric disorder, and use an SSRI. Psychiatric disorders and use of antidepressants should be considered in the differential diagnosis of DED.
    Cornea 02/2012; 31(6):686-92. · 1.75 Impact Factor
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    ABSTRACT: To identify the likelihood of family history as a risk factor for the presence and severity of primary angle closure (PAC) and primary open angle glaucoma (POAG) in a Chinese population. All participants were asked to complete a questionnaire and undergo a comprehensive eye examination. Past history of hypertension, diabetes mellitus, hyperopia, high myopia, and family history of glaucoma were recorded. For those patients with a family history of glaucoma, the relationship between the patient and the affected relatives has been specified. A total of 332 PAC patients, 228 POAG patients and 193 controls were included. Of the 332 PAC patients, 83 (25.00%) had glaucoma family history. Characteristic-adjusted odds ratio (OR) of family history for PAC was 4.82 [95% confidence interval (CI): 2.08-11.19] and for severity of PAC was 1.61 (95% CI: 1.05-2.49). Among first-relatives only parents account for the family history rate of PAC [OR 8.76 (95% CI: 2.00-38.32)]. Of the 228 POAG patients, 49 (21.49%) had a family history of glaucoma. Odds ratio for POAG was 8.38 (95% CI: 3.33-21.07) and for severity of POAG was 1.81 (95% CI: 1.05-3.14). Unlike patients with PAC, only siblings and offspring account for the family history rate of POAG [OR 8.99 (95% CI: 2.38-33.99) and OR 19.23 (95% CI: 1.53-241.24) respectively]. Our study showed that a family history of glaucoma is associated with the presence and severity of PAC and POAG. This supports the finding that screening first-degree relatives will be an effective way to detect glaucoma in a population.
    Ophthalmic epidemiology 10/2011; 18(5):226-32. · 1.93 Impact Factor
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    ABSTRACT: To identify the pathogenic gene mutation in a Chinese family with autosomal dominant congenital nuclear cataract. After obtaining informed consent, detailed ophthalmic examinations were performed and genomic DNAs were obtained from eleven family members in a three-generation Chinese family with five affected. All exons of candidate genes associated with congenital nuclear cataract were amplified by polymerase chain reaction (PCR) and the PCR products were sequenced in both directions. The hydrophobic property of the mutant protein was analyzed with bioinformatics program ProtScale. The structure homology modeling of the mutant protein was based on Swiss-Model Serve, and its structure was displayed and compared with native γD-crystallin (CRYGD) using the RasMol software. By sequencing the encoding regions of the candidate genes, a novel mutation (c.110G>C) was detected in exon 2 of CRYGD, which resulted in the substitution of a highly conserved arginine by proline at codon 36 (p.R36P). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. Bioinformatics analysis showed an obvious increase of the local hydrophilicity of the R36P mutant γD-crystallin. The homology modeling showed that the structure of the mutant protein was similar with that of native human γD-crystallin. The study identified a novel mutation (c. 110G>C) in CRYGD associated with autosomal dominant congenital cataract in a Chinese family. It expands the mutation spectrum of CRYGD in association with congenital cataract.
    Molecular vision 01/2011; 17:804-9. · 1.99 Impact Factor
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    ABSTRACT: We investigated the relationship between primary congenital glaucoma (PCG) in the Chinese Han population and its candidate locus GLC3C. 152 nuclear families (patients with normal parents) without carrying the CYP1B1 mutation were enrolled. Fluorescence Labeled Multiplex-PCR was used to genotype 12 short tandem repeats (STRs) within GLC3C region and transmission disequilibrium test (TDT) was used to analyze the association between PCG and these STR markers. Sixteen haplotype tag single nucleotide polymorphisms (htSNPs) were chosen from the location where the TDT tests showed positive results. Matrix-assisted laser desorption/ionization Time-of-flight (MALDI-TOF) mass spectrometry was used to perform SNP genotyping Haplotypes constructed from these SNPs were analyzed. The TDT results of STRs in the GLC3C area indicated that D14S279, D14S555 and D14S74 have significant transmission disequilibrium signals (p=0.0210, 0.0096 and 0.0034), with a genetic distance of 0.006 cM among them. Significant transmission disequilibrium (P=0.0010) occurred between the haplotype TAACG of rs2111701- rs4020123- rs4903696- rs11159318- rs177216 and the disease. Detection of disease causing genes within this region needs further study.
    Frontiers in Bioscience 01/2011; 16:2052-9. · 3.29 Impact Factor
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    ABSTRACT: Primary open-angle glaucoma (POAG) is the most common form of glaucoma which is an irreversible blind leading disease and lacks effective remedies. In recent years, POAG has been linked to the gene MYOC encoding myocilin that has been identified to harbor causal mutations. A variety of studies show that the mutant myocilin acts by gain of function. The mutant MYOC protein induces endoplasmic reticulum (ER) stress and the resultant unfolded protein response (UPR) induces apoptosis in the trabecular meshwork cells, which then leads to an increase in resistance to aqueous humor outflow, elevated intraocular pressure (IOP), and, ultimately, glaucoma. Culturing human trabecular meshwork (HTM) cells at a condition facilitating protein folding promotes secretion of mutant myocilin, normalizes cell morphology and reverses cell lethality. We speculate that a complete elimination of mutant myocilin expression in trabecular meshwork cells is safe and that gives the possibility of avoiding the POAG phenotype. We propose RNA interference (RNAi) as a gene silencing therapy to eliminate the mutant myocilin proteins in the trabecular meshwork cells, either in a mutation-dependent or mutation-independent way due to the different engineering of the small interfering (si) RNA. The RNAi strategy can reverse the pathological process of trabecular meshwork cells and thus treat the POAG caused by myocilin gene mutation. This strategy can also be applicable to many protein-misfolding diseases caused by gain-of-function mutant proteins.
    Diagnostic Pathology 12/2009; 4:46. · 1.85 Impact Factor
  • Clinical and Experimental Ophthalmology 09/2009; 37(6):634-6. · 1.96 Impact Factor
  • Xueli Chen, Yuhong Chen, Xinghuai Sun
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    ABSTRACT: To assess how general glaucoma patients understand their disease compared with patients from the Shanghai Glaucoma Club and various influencing factors as well. Shanghai Glaucoma Club was further evaluated to determine its efficacy on its members' understanding and knowledge of glaucoma. A total of 301 glaucoma patients in Shanghai Glaucoma Club and 314 general glaucoma patients were investigated by a questionnaire, composed of three parts and consisting of 20 questions. The first part asked questions about 'level of cognition about glaucoma', the second part was about 'compliance of medication and follow-up', and the third part was about 'life style and habit'. Answers were graded on each question and scores were summed up separately for each part and as a total. Differences of scores and influencing effects were analysed using multivariate linear regression (stepwise) between the two groups. The average total scores of the general glaucoma patients and the glaucoma club members were 19.6 +/- 5.4 and 23.8 +/- 4.0 (t = -11.14 P < 0.01), respectively. After multivariate linear regression adjustment for the effects of age, diagnosis and educational level glaucoma club members still had 3.73 points edge over the general patients.(t = 8.14, P < 0.01). The club was shown to be the strongest positive factor influencing patients' cognition. Patients in Shanghai Glaucoma Club understood the nature and course of glaucoma significantly better than the general glaucoma patients (t = 10.97, P < 0.01) and also lived healthier lives (t = 7.55, P < 0.01). The level of background education was found to be a positive influencing factor although age was negatively correlated with total score. Primary glaucoma patients demonstrated better cognition of their diseases compared with secondary glaucoma patients, and those patients unaware of their type of glaucoma produced lower scores. This study demonstrated significant differences regarding the basic understanding of glaucoma between two groups: general glaucoma patients and members of the Shanghai Glaucoma Club. Club members presented with better cognition of glaucoma and self-management compared with general glaucoma patients. Therefore, the Shanghai Glaucoma Club is an effective medium to improve patients' knowledge of disease and compliance for medication.
    Clinical and Experimental Ophthalmology 08/2009; 37(6):590-4. · 1.96 Impact Factor

Publication Stats

26 Citations
24.47 Total Impact Points

Institutions

  • 2009–2014
    • Fudan University
      • • Department of Ophthalmology
      • • Hospital of Eye, Ear, Nose and Throat
      Shanghai, Shanghai Shi, China