Publications (13)55.87 Total impact
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Article: Early vitreoretinal surgery on vascularly active stage 4 retinopathy of prematurity through the preoperative intravitreal bevacizumab injection.
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ABSTRACT: Purpose: To evaluate the effect of early vitreoretinal surgery on vascularly active stage 4 ROP through the preoperative use of intravitreal bevacizumab. Methods: This was a retrospective study. Eighteen patients with vascularly active stage 4 ROP who underwent primary vitrectomy from April 2007 to March 2010 were enrolled. Twelve eyes from eight patients received one-time intravitreal injection of 0.625 mg bevacizumab 7 days prior to vitrectomy (bevacizumab group), and 11 eyes from 10 patients underwent the surgical procedure without bevacizumab (control group). Demographical information of all patients was recorded. The patients were followed up for 12-36 months after the surgery. The postmenstrual age at vitrectomy, surgical procedure, anatomical and visual outcome, adverse effects and surgical complications were compared. Results: There was no statistically significant difference between the two groups in gender, birthweight and gestational age. The bevacizumab group showed remarkable regression of vascular activity after the injection. The mean postmenstrual age at the time of vitrectomy was significantly earlier in the bevacizumab group (40 versus 47 weeks, p = 0.002) compared with the controls. The mean surgery time was shorter in the bevacizumab group (74.81 versus 101.70 min, bevacizumab group versus control, p = 0.002). At the final follow-up, all patients in the bevacizumab group achieved anatomical retinal attachment, compared with 70% in the control group. Eighty-eight per cent patients in the bevacizumab group obtained pattern vision, while it was 30% in the control group (p = 0.015). Conclusion: Intravitreal bevacizumab administrated prior to vitrectomy effectively reduced active neovascularization in vascularly active stage 4 ROP patients, thus advancing the timing of vitrectomy and facilitating pars plicata vitrectomy (PPV).Acta ophthalmologica 05/2013; · 2.44 Impact Factor -
Article: A genetic variant in the SKIV2L gene is significantly associated with age-related macular degeneration in a Han Chinese population.
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ABSTRACT: PURPOSE: Previous studies have shown genetic variants in the complement component 2 (C2)/complement factor B (BF) gene are associated with age-related macular degeneration (AMD) in Caucasians, but not in Han Chinese. Recent studies have indicated that genetic variants in the neighboring superkiller viralicidic activity 2-like (SKIV2L) gene showed significant association with AMD. We conducted this study to investigate whether genetic variants in the SKIV2L gene are associated with AMD in a Han Chinese population. METHODS: Thirteen single nucleotide polymorphisms (SNPs) in the C2-BF-RDBP-SKIV2L-STK19 region were genotyped by the SNaPshot method in a cohort composed of 449 patients with choriodal neovascularization (CNV) AMD and 1,025 normal controls of Han Chinese descent. RESULTS: Among the SNPs genotyped, P-values of seven SNPs were less than 0.05; however, only rs429608 was found to be significantly associated with AMD after correction for multiple testing. The minor allele (A) frequency of rs429608 was 0.050 in cases and 0.089 in controls, and the P-value was 3.76x10-4 (0.00489 after Bonfferoni correction), with an odds ratio (OR) of 0.55 (95% confidence interval, 0.40-0.77). The SKIV2L gene was expressed in the human retinal pigment epithelium (RPE), retina and D407 (human RPE) cells, and in mouse retinas and RPE. CONCLUSIONS: We demonstrated that the rs429608 genetic variant in the SKIV2L gene was significantly associated with AMD in a Han Chinese population. SKIV2L may play an important role in the development of AMD.Investigative ophthalmology & visual science 04/2013; · 3.43 Impact Factor -
Article: A genome-wide meta-analysis identifies two novel loci associated with high myopia in the Han Chinese population.
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ABSTRACT: High myopia, highly prevalent in the Chinese population, is a leading cause of visual impairment worldwide. Genetic factors play a critical role in the development of this visual disorder. Genome-wide association studies in recent years have revealed several chromosomal regions that contribute to its progression. To identify additional genetic variants for high myopia susceptibility, we used a genome-wide meta-analysis to examine the associations between the disease and 286 031 single-nucleotide polymorphisms (SNPs) in a combined cohort of 665 cases and 960 controls. The most significant SNPs (n = 61) were genotyped in a replication cohort (850 cases and 1197 controls), and 14 SNPs were further tested through genotyping in two additional validation cohorts (combined 1278 cases and 2486 controls). As a result of this analysis, four SNPs reached genome-wide significance (P < 2.0 × 10-7). The most significantly associated SNP, rs2730260 [overall P = 8.95 × 10-14; odds ratio (95% CI) =1.33 (1.23-1.44)], is located in the VIPR2 gene, which is located in the MYP4 locus. The other three SNPs (rs7839488, rs4395927 and rs4455882) in the same linkage disequilibrium block are located in the SNTB1 gene, with -P values ranging from 1.13 × 10-8 to 2.13 × 10-11. The VIPR2 and SNTB1 genes are expressed in the retina and the retinal pigment epithelium and have been previously reported to have potential functions for the pathogenesis of myopia. Our results suggest that variants of the VIPR2 and SNTB1 genes increase susceptibility to high myopia in Han Chinese.Human Molecular Genetics 02/2013; · 7.64 Impact Factor -
Article: Effect of A(2A) receptor antagonist (SCH 442416) on the mRNA expression of glutamate aspartate transporter and glutamine synthetase in rat retinal Müller cells under hypoxic conditions in vitro.
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ABSTRACT: The purpose of the present study was to investigate the effect of the A(2A) receptor antagonist (SCH 442416) on the mRNA expression of glutamate aspartate transporter (GLAST) and glutamine synthetase (GS) in rat retinal Müller cells under hypoxic conditions in vitro. Immunofluorescent staining of GS and GFAP was used for the identification of Müller cells. The GLAST and GS mRNA expression of Müller cells treated with 0.1, 1 and 10 μM SCH 442416 under hypoxic conditions was examined by real-time PCR. Müller cells increased the mRNA expression of GLAST under hypoxic conditions; those treated with 0.1 μM SCH 442416 showed a further significant increase in the mRNA expression of GLAST in vitro. Although the mRNA expression of GS was decreased under hypoxic conditions, the mRNA expression was increased when Müller cells were treated with 0.1 μM SCH 442416. A(2A) receptor antagonist increased the GLAST and GS expression of Müller cells and accelerated the clearance of extracellular glutamate under hypoxic conditions in vitro.Experimental and therapeutic medicine 05/2012; 3(5):803-806. -
Article: Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
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ABSTRACT: High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10(-4) in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10(-16), heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10(-11) to 6.16 × 10(-16). This associated locus contains three genes-MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia.The American Journal of Human Genetics 06/2011; 88(6):805-13. · 10.60 Impact Factor -
Article: Exome sequencing identifies ZNF644 mutations in high myopia.
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ABSTRACT: Myopia is the most common ocular disorder worldwide, and high myopia in particular is one of the leading causes of blindness. Genetic factors play a critical role in the development of myopia, especially high myopia. Recently, the exome sequencing approach has been successfully used for the disease gene identification of Mendelian disorders. Here we show a successful application of exome sequencing to identify a gene for an autosomal dominant disorder, and we have identified a gene potentially responsible for high myopia in a monogenic form. We captured exomes of two affected individuals from a Han Chinese family with high myopia and performed sequencing analysis by a second-generation sequencer with a mean coverage of 30× and sufficient depth to call variants at ∼97% of each targeted exome. The shared genetic variants of these two affected individuals in the family being studied were filtered against the 1000 Genomes Project and the dbSNP131 database. A mutation A672G in zinc finger protein 644 isoform 1 (ZNF644) was identified as being related to the phenotype of this family. After we performed sequencing analysis of the exons in the ZNF644 gene in 300 sporadic cases of high myopia, we identified an additional five mutations (I587V, R680G, C699Y, 3'UTR+12 C>G, and 3'UTR+592 G>A) in 11 different patients. All these mutations were absent in 600 normal controls. The ZNF644 gene was expressed in human retinal and retinal pigment epithelium (RPE). Given that ZNF644 is predicted to be a transcription factor that may regulate genes involved in eye development, mutation may cause the axial elongation of eyeball found in high myopia patients. Our results suggest that ZNF644 might be a causal gene for high myopia in a monogenic form.PLoS Genetics 06/2011; 7(6):e1002084. · 8.69 Impact Factor -
Article: An Arg124His mutation in TGFBI associated to Avellino corneal dystrophy in a Chinese pedigree.
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ABSTRACT: To identify the gene mutation underlying Avellino corneal dystrophy in a four-generation Chinese pedigree. Patients from the affected family underwent detailed clinical examination involving slit-lamp photography and confocal microscopy. Genomic DNA extracted from peripheral leukocytes was amplified using touch-down PCR for gene scanning. Two-point linkage analysis and haplotyping were performed to map the relevant chromosome region. The candidate gene in this region was sequenced to screen out the disease-causing mutation. Patients in the pedigree were diagnosed with Avellino corneal dystrophy. Using linkage analysis, the responsible gene was mapped to chromosome 5q31.2 with a maximum LOD (log odds) score (Z(max)) of 3.23 at D5S479 (θ(max)=0.0). Haplotypes constructed from 11 microstallite markers identified the disease-linked chromosome region as being below D5S808. Sequencing of TGFBI (transforming growth factor-beta induced gene), a known gene in this region, revealed a heterozygous transition (c.418 G>A) in exon 4 resulting in Arg124His (R124H) being co-segregated with the disease in affected family members but not in the unaffected members or the 50 unrelated controls. Our study demonstrated that a G>A transition in Arg124His of TGFBI was responsible for Avellino corneal dystrophy in a Chinese pedigree. This result further supports the importance of TGFBIp in maintaining transparency of the cornea.Molecular vision 01/2011; 17:3200-7. · 2.20 Impact Factor -
Article: Association study of complement factor H, C2, CFB, and C3 and age-related macular degeneration in a Han Chinese population.
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ABSTRACT: Genes in the complement pathway, including complement factor H (CFH), C2/BF, and C3, have been reported to be associated with age-related macular degeneration (AMD). Genetic variants, single-nucleotide polymorphisms (SNPs), in these genes were geno-typed for a case-control association study in a mainland Han Chinese population. One hundred and fifty-eight patients with wet AMD, 80 patients with soft drusen, and 220 matched control subjects were recruited among Han Chinese in mainland China. Seven SNPs in CFH and two SNPs in C2, CFB', and C3 were genotyped using the ABI SNaPshot method. A deletion of 84,682 base pairs covering the CFHR1 and CFHR3 genes was detected by direct polymerase chain reaction and gel electrophoresis. Four SNPs, including rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), in CFH showed a significant association with wet AMD in the cohort of this study. A haplotype containing these four SNPs (CATA) significantly increased protection of wet AMD with a P value of 0.0005 and an odds ratio of 0.29 (95% confidence interval: 0.15-0.60). Unlike in other populations, rs2274700 and rs1410996 did not show a significant association with AMD in the Chinese population of this study. None of the SNPs in CFH showed a significant association with drusen, and none of the SNPs in CFH, C2, CFB, and C3 showed a significant association with either wet AMD or drusen in the cohort of this study. The CFHR1 and CFHR3 deletion was not polymorphic in the Chinese population and was not associated with wet AMD or drusen. This study showed that SNPs rs3753394 (P = 0.0276), rs800292 (P = 0.0266), rs1061170 (P = 0.00514), and rs1329428 (P = 0.0089), but not rs7535263, rs1410996, or rs2274700, in CFH were significantly associated with wet AMD in a mainland Han Chinese population. This study showed that CFH was more likely to be AMD susceptibility gene at Chr.1q31 based on the finding that the CFHR1 and CFHR3 deletion was not polymorphic in the cohort of this study, and none of the SNPs that were significantly associated with AMD in a white population in C2, CFB, and C3 genes showed a significant association with AMD.Retina (Philadelphia, Pa.) 09/2010; 30(8):1177-84. · 2.93 Impact Factor -
Article: An association study of SERPING1 gene and age-related macular degeneration in a Han Chinese population.
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ABSTRACT: Single nucleotide polymorphisms (SNPs) in the complement component 1 inhibitor (SERPING1) gene have been shown to be significantly associated with age-related macular degeneration (AMD) in Caucasian populations. A replication study of an association between these SNPs and AMD in a Chinese population is reported in this study. Six SNPs, including rs2511990, rs1005510, rs11546660, rs2511989, rs2511988, and rs4926 in SERPING1 were genotyped in a Han Chinese subject group using the SNaPshot method of ABI. This subject group was composed of 194 patients with choroidal neovascularization (CNV or wet) AMD, 78 patients with soft drusen, and 285 matched controls. P values of the SNPs were calculated using an additive model. Haplotype frequencies between cases and controls were compared by chi2 analysis. The haplotype analysis was performed using Haploview 4.0. None of the six SNPs showed significant association with AMD. None of the major haplotypes were observed to be significantly associated with AMD or choroidal neovascularization AMD (CNV) after a stringent Bonferroni correction. We demonstrate that SNPs in SERPING1 are not significantly associated with AMD in the mainland Han Chinese population.Molecular vision 01/2010; 16:1-6. · 2.20 Impact Factor -
Article: Genetic and functional dissection of HTRA1 and LOC387715 in age-related macular degeneration.
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ABSTRACT: A common haplotype on 10q26 influences the risk of age-related macular degeneration (AMD) and encompasses two genes, LOC387715 and HTRA1. Recent data have suggested that loss of LOC387715, mediated by an insertion/deletion (in/del) that destabilizes its message, is causally related with the disorder. Here we show that loss of LOC387715 is insufficient to explain AMD susceptibility, since a nonsense mutation (R38X) in this gene that leads to loss of its message resides in a protective haplotype. At the same time, the common disease haplotype tagged by the in/del and rs11200638 has an effect on the transcriptional upregulation of the adjacent gene, HTRA1. These data implicate increased HTRA1 expression in the pathogenesis of AMD and highlight the importance of exploring multiple functional consequences of alleles in haplotypes that confer susceptibility to complex traits.PLoS Genetics 01/2010; 6(2):e1000836. · 8.69 Impact Factor -
Article: Association of HTRA1 polymorphism and bilaterality in advanced age-related macular degeneration.
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ABSTRACT: Single nucleotide polymorphism (SNP), rs11200638, in the promoter of HTRA1 has recently been shown to increase the risk for AMD. In order to investigate the association of this HTRA1 polymorphism and the bilaterality of AMD, we genotyped rs11200638 in control, unilateral, and bilateral advanced AMD patients. The A allele for SNP rs11200638 in HTRA1, was significantly more prevalent in bilateral wet AMD and GA patients than in unilateral groups (p=.02 and p=.03, respectively). The homozygote odds ratios of bilateral wet AMD and GA are significantly greater than those seen in unilateral groups (twofold and threefold increase, respectively). This finding is consistent with the role of HTRA1 in AMD pathogenesis and will help aid in the clinical management and prognosis of AMD patients.Vision Research 03/2008; 48(5):690-4. · 2.41 Impact Factor -
Article: A novel mutation in BBS7 gene causes Bardet-Biedl syndrome in a Chinese family.
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ABSTRACT: To describe the clinical features of and identify a novel mutation in Bardet-Biedl syndrome 7 gene (BBS7) in a Chinese family. Nineteen individuals at risk for inheriting Bardet-Biedl syndrome (BBS) in a Chinese family participated in the study. Physical examination was performed and blood was drawn for DNA extraction. Linkage analysis was conducted for all known BBS loci, and mutation screening of BBS7 gene and BBS12 gene was performed. A Chinese family with inherited BBS was identified. After performing linkage analysis on all 13 known loci, we found the disease phenotype of a Chinese family with BBS linked to a locus where BBS7 and BBS12 genes locate. This study describes a novel mutation in BBS7 causing BBS in a Chinese family. This is the first report that a mutation in a BBS gene causes BBS in a Chinese population. These results expand the spectrum of human disease associated with mutations of BBS7 since the initial three mutations in BBS7 were first identified in 2003.Molecular vision 02/2008; 14:2304-8. · 2.20 Impact Factor -
Article: HTRA1 variant increases risk to neovascular age-related macular degeneration in Chinese population.
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ABSTRACT: Age-related macular degeneration (AMD) is a leading cause of irreversible visual impairment in the world. Advanced AMD can be divided into wet AMD (choroidal neovascularization) and dry AMD (geographic atrophy, GA). Drusen is characterized by deposits in the macula without visual loss and is an early AMD sign in the Caucasian population. rs11200638 in the promoter of HTRA1 has recently been shown to increases the risk for wet AMD in both Caucasian and Hong Kong Chinese populations. In order to replicate these results in a different cohort, we genotyped rs11200638 for 164 Chinese patients (90 wet AMD and 74 drusen) and 106 normal controls in a Han Mainland Chinese cohort. The genotypes were compared using chi square analysis for an additive allelic model. rs11200638 was significantly associated with wet AMD (p=5.00x10(-12)). Unlike in the Caucasian population, the risk allele of rs11200638 was not associated with drusen in our Chinese population. These findings confirm the association of HTRA1 with wet AMD.Vision Research 12/2007; 47(24):3120-3. · 2.41 Impact Factor
Top co-authors
Top Journals
Institutions
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2007–2013
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Sichuan Academy of Medical Sciences & Sichuan Provincial People's Hospital
Chengdu, Sichuan Sheng, China
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2010–2012
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Shanghai Jiao Tong University
- Department of Ophthalmology
Shanghai, Shanghai Shi, China
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2011
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Shanghai University
- Department of Ophthalmology
Shanghai, Shanghai Shi, China
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