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ABSTRACT: To investigate the association between angiotensin converting enzyme (ACE) gene locus rs1799752 insertion/deletion (I/D) polymorphism and diabetic retinopathy (DR) in type 2 diabetes mellitus.
Case-control study. Type 2 diabetes patients were recruited and assigned into DR group, which included proliferative diabetic retinopathy (PDR) group or diabetes without retinopathy (DWR) group. Volunteers without diabetes from the same community were recruited as the control group. PCR and agarose gel electrophoresis methods were adopted to determine the rs1799752 I/D polymorphism genotypes of the ACE gene. The frequency of genotypes and alleles was compared among the various groups.
Four hundred and twelve diabetes patients: (207 subjects of DR, including 53 subjects of PDR and 205 subjects of DWR) and 97 non-diabetic control subjects were included in the study. The frequencies of the I and D alleles of ACE rs1799752 polymorphism were 54.1% and 45.9%, respectively, in the DR group, 52.8% and 47.2% in the PDR group, and 48.0% and 52.0% in the DWR group. There were no statistical differences between DR and DWR groups (χ(2) = 3.02, P > 0.05) or between PDR and DWR groups (χ(2) = 0.77, P > 0.05). Moreover, there were no statistical differences in the distribution of the ACE genotypes between DR group (II 25.1%, ID 58.0%, DD 16.9%) and DWR group (II 22.0%, ID 52.2%, DD 25.9%) (χ(2) = 4.92, P > 0.05) or between PDR group (II 20.7%, ID 64.2%, DD 15.1%) and DWR group (χ(2) = 3.19, P > 0.05). No statistical differences were found in the frequencies of the I and D alleles, and the distributions of I/D genotypes between diabetic group and the control group (χ(2) = 0.25, 4.98; P > 0.05). In the multiple regressions model including clinical factors such as the age of onset of diabetes, urinary albumin, insulin usage, creatinine, glycated hemoglobin, fast glucose, and the use of ACE inhibitor, no association was found between ACE gene polymorphism and DR (OR = 0.80, 95%CI: 0.59 - 1.09) or PDR (OR = 1.23, 95%CI: 0.78 - 1.93).
There is no association between ACE rs1799752 gene insertion/deletion (I/D) polymorphism and DR in patients with type 2 diabetes mellitus.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 01/2013; 49(1):52-7.
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ABSTRACT: To determine the interaction of susceptibility genes in patients with exudative age-related macular degeneration (AMD) in a Chinese case-control cohort.
It was a case-control study. Six single nucleotide polymorphisms (SNPs) previousely genotyped in cases with exudative AMD and control indivisuals, including complement factor H (CFH) non-coding variant rs1410996, CFH rs1061170 (Y402H), LOC387715 rs10490924, C3 rs2230199 (R102G), C3 rs1047286 (P314L), and HTRA1 rs11200638, were selected for analyzing the interactions among susceptibility genes. The numerical data were examined by Student t test. The genotype distributions between cases and controls were compared using the Chi2 test. Genetic interactions were examined using logistic regression model and synergy index (SI) value based on crossover analysis table.
A total of 150 cases with exudative AMD (88 male, 62 female) and 161 control individuals (84 male, 77 female) were included in this study. There was no significant difference in age (t = 0.91, P = 0.37) or gender (Chi2 = 1.32, P = 0.25) between the AMD cases and the controls. SNPs associated with the risk of exudative AMD included CFH non-coding variant rs1410996 (Chi2 = 17.83, P < 0.05), LOC387715 rs10490924 (Chi2 = 17.71, P < 0.05) and HTRA1 rs11200138 (Chi2 = 2.77, P < 0.05). No interaction was observed between CFH rs1410996 and LOC387715 rs10490924 (logistic regression, P = 0.41; SI = 1.04, P = 0.45) or between CFH rs1410996 and HTRA1 rs 11200138 (logistic regression, P = 0.91; SI = 1.42, P = 0.17).
The data suggest that LOC387715 rs10490924 / HTRA1 rs11200138 and CFH rs1410996 are independently associated with the risk of exudative AMD in Chinese.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 03/2012; 48(3):241-5.
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ABSTRACT: The collection of buccal cells with swabs provides a noninvasive method for obtaining genomic DNA for genetic screening. We aimed to study the feasibility of using buccal swabs for genetic screening in patients with exudative age-related macular degeneration (AMD).
Blood and buccal swabs were collected for genetic analysis from 65 patients with exudative AMD. Genomic DNA was isolated from either blood or buccal swabs. The yield of genomic DNA from both sources was determined by spectrophotometer. Genotyping for CFH, LOC387715, and HTRA1 Polymorphisms was performed using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion. Results using genomic DNA from blood or buccal swabs were compared.
Three swabs were obtained from each patient, 2 from each side of buccal mucosa, and 1 from both upper and inferior gingival mucosa. From swabs with genomic DNA extracted within a week after sample collection, an average of (3.17 ± 1.46) µg genomic DNA was obtained from swab collected from the left or right side buccal mucosa, and (3.94 ± 1.04) µg from swab collected from the upper and inferior gingival mucosa, with relatively higher yield of genomic DNA from the upper and inferior gingival mucosa (t = 6.79, P < 0.05). From swabs of the left or right side buccal mucosa after being stored at -20°C for 12 months, an average of (3.10 ± 1.17) µg genomic DNA was obtained, which showed no statistically significant difference as compared to the yield of genomic DNA extracted from newly collected swabs (t = 0.59, P > 0.05). In all 65 patients, genomic DNA isolated from either buccal swabs or blood samples showed exactly the same results regarding the genotypes of CFH, LOC387715, and HTRA1 Polymorphisms.
Buccal swab is a simple, noninvasive, and reliable source for obtaining genomic DNA. Swabs stored for 12 months at -20°C provide similar amount of genomic DNA as the freshly collected swabs.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 02/2012; 48(2):114-8.
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ABSTRACT: Age related macular degeneration (AMD) is the most common cause of irreversible blindness in the aged population in the western world. AMD is considered to be a multifactorial disease with involvement of both genetic and environmental factors. With the development of molecular biology and molecular genetics, numerous susceptibility genes have been identified. Here we review the recent advances in the genetic studies regarding the AMD susceptibility genes.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 02/2012; 48(2):176-8.
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ABSTRACT: To identify the disease-causing mutation in a family of Leber hereditary optic neuropathy (LHON).
Clinical data and family information were collected. Peripheral venous blood was drawn from patients and family members who agreed to donate the blood samples. Genomic DNA was extracted from blood leukocytes. Three primary mitochondrial DNA (mtDNA) mutations, G3460A, G11778A, and T14484C were screened using a method of polymerase chain reaction (PCR) followed by direct sequencing.
This 3-generation family had 14 members. Seven family members were affected, including 5 female patients and 2 male patients. Pedigree analysis showed maternal inheritance. Mutation analysis in 4 affected and 3 unaffected family members showed G11778A mutation in all 4 affected and 2 of the 3 unaffected individuals.
G11778A mutation in mtDNA is the disease-causing mutation in this family of LHON. For the mutation carriers, early intervention may prevent or delay the onset of the disease.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 12/2011; 47(12):1080-3.
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ABSTRACT: To investigate the association of M299V variant in the elongation of very long chain fatty acids-like 4 (ELOVL4) gene with exudative age-related macular degeneration (AMD) in a Chinese population.
A total of 262 participants enrolled this study, including 145 patients with exudative AMD and 117 control individuals without AMD. Genomic DNA was extracted from peripheral blood. Genotyping for single nucleotide polymorphism (SNP) rs3812153: A > G (M299V) in ELOVL4 gene was performed using a method of polymerase chain reaction (PCR) followed by restriction enzyme digestion and direct sequencing. Numerical data were examined by Student t test. Genotypes and allele frequencies between AMD cases and the controls were compared by using the chi(2) test. Odd ratios (OR) and 95% confidence intervals (CI) were calculated according to the Woolf's equation. Compliance to Hardy-Weinberg equilibrium for distribution of genotypes was examined using Haploview version 4.0.
There was no significant difference in age or gender between AMD cases and the controls. Genotype distributions for M299V in AMD cases or the control subjects were in Hardy-Weinberg equilibrium. The M299V variant in ELOVL4 gene was not associated with exudative AMD in the population sample studied (chi(2) = 0.960, P = 0.619). Frequency of the rare allele G was 17.2% in cases with exudative AMD and 19.7% in the control individuals (chi(2) = 0.505, P = 0.477). Compared to the wild-type AA genotype, OR for risk of AMD was 0.99 (95%CI: 0.78 - 1.26) in heterozygous AG genotype and 0.56 (95%CI: 0.17 - 1.82) in homozygous GG genotype.
Our data suggested that there was no association between the M299V variant in ELOVL4 gene and exudative AMD in the Chinese population.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 02/2010; 46(2):125-8.
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ABSTRACT: A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified. The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage analysis.
Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography, fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months. Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted. Linkage analysis was performed for candidate genes or loci using microsatellite markers.
Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD. The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUCY2D, and AIPL1) and two genetic loci (4p15.2 - 16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.
The clinical findings of this Chinese family with CACD shared similarities with previously reported families of other ethnicities. Linkage analysis excluded the known genes and genetic loci, indicating genetic heterogeneity of the disease.
Chinese medical journal 11/2009; 122(22):2686-90. · 0.86 Impact Factor
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Ning-pu Liu
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ABSTRACT: Age-related macular degeneration (AMD) is the leading cause of blindness in the elderly population and threatens the ability of patients to live independently. Ethnic differences are evident in the prevalence of AMD, its clinical features, as well as treatment responses to photodynamic therapy (PDT), most likely due to the differences in genetic backgrounds, disease susceptibility, living environments and habits. This article reviewed ethnic/racial differences in AMD, paying particular attention to the Chinese population, and highlighted the key findings. Compared to Caucasians, the prevalence of early and late stages of AMD is relatively lower and the polypoidal choroidal vasculopathy (PCV) is more commonly seen in the Chinese population. Regarding genetic susceptibility, the complement factor H (CFH) Y402H variant is not associated with exudative AMD in Chinese although it is strongly associated with AMD in Caucasians. In addition, visual outcome in Chinese patients with AMD seems to be better than that in Caucasian patients after PDT at 1 year follow-up.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 06/2009; 45(5):393-5.
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ABSTRACT: To assess the risk factors and prognosis of peripheral retinal breaks complicating pars plana vitrectomy.
Retrospective observational case series. Four hundred and four consecutive vitrectomies performed on eyes without preexisting retinal breaks or retinal detachments were retrospectively reviewed. Cases with peripheral retinal breaks found during or after the vitrectomy were recorded and analyzed.
Of the 404 vitrectomies, 32 eyes had 55 iatrogenic peripheral retinal breaks with an average incidence of 7.9%. Peripheral retinal breaks were most common in cases with branch retinal vein occlusion (BRVO) (13.3%) and less common in proliferative diabetic retinopathy (PDR) (3.7%) (chi2 =9.18, P<0.01). Of the 55 breaks, 51 (92.7%) occurred around the sclerotomy sites, and 29 (52.7%) in the quadrant corresponding to the predominant hand of the surgeon. Cases with breaks detected during surgery had a better outcome of retinal reattachment as compared with cases identified postoperatively.
Peripheral retinal breaks complicating pars plana vitrectomy is mainly sclerotomy-related and is more common in cases with BRVO than in cases with PDR. Early detection during surgery tends to have a better outcome.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 10/2008; 44(9):776-9.
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ABSTRACT: Congenital cataract is a highly heterogeneous disorder at both the genetic and phenotypic levels. This study was conducted to identify disease locus for autosomal dominant congenital cataracts in a four generation Chinese family.
Family history and clinical data were recorded. All the members were genotyped with microsatellite markers which are close to the known genetic loci for autosomal congenital cataracts. Two-point Lod scores were obtained using the MLINK of the LINKAGE program package (ver 5.1). Candidate genes were amplified by polymerase chain reaction (PCR) and direct cycle sequencing.
The maximum Lod score of Zmax-2.11 was obtained with three microsatellite markers D22S258, D22S315, and D22S1163 at recombination fraction theta=0. Haplotype analysis showed that the disease gene was localized to a 18.5 Mbp region on chromosome 22 flanked by markers D22S1174 and D22S270, spanning the beta-crystallin gene cluster. A c.752T-->C mutation in exon 6 of CRYBB1 gene, which resulted in a heterozygous S228P mutation in predicted protein, was found to cosegregate with cataract in the family.
This study identified a novel mutation in CRYBB1 gene in a Chinese family with autosomal dominant congenital cataract. These results provide strong evidence that CRYBB1 is a pathogenic gene for congenital cataract.
Chinese medical journal 05/2007; 120(9):820-4. · 0.86 Impact Factor
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ABSTRACT: Based on the manuscripts received by several ophthalmologic journals, major issues regarding current ophthalmic research aspects in China were analyzed and discussed, including the selection of project, the design of research, the choice of statistical treatments and the techniques of writing research manuscripts. This article provides suggestions for Chinese ophthalmologists to improve the quality of their research work.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 05/2006; 42(4):296-8.
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ABSTRACT: To identify CHST6 mutations in five additional Icelandic cases of macular corneal dystrophy (MCD) type I and in four families with MCD type II from Iceland.
Genomic DNA was extracted from blood leukocytes of patients with MCD, their healthy family members, and from control individuals. CHST6 mutations were determined by PCR-sequencing. Immunophenotypes of MCD were determined by measuring antigenic keratan sulfate (AgKS) levels in serum and by an immunohistochemical study on corneal tissue.
Five additional cases of MCD type I and four families with MCD type II from Iceland were studied. A homozygous p.A128V mutation in the coding region of the CHST6 gene was identified in four of the five MCD type I cases. The other person with MCD type I was a compound heterozygote for p.A128V and a frameshift p.V6fs resulting from a 10-base pair insertion (c.15_16insATGCTGTGCG). Four of five individuals with MCD type II were compound heterozygotes for p.A128V and p.V329L, thus sharing the same p.A128V mutation as MCD type I. One patient with MCD type II was homozygous for p.V329L. The p.V329L mutation was only found in MCD type II patients. An analysis of the upstream region of CHST6 disclosed no upstream deletion or replacements in Icelandic patients with MCD type II.
The findings fit the haplotype analysis that we reported previously in Icelandic MCD families and indicate that different mutations in CHST6 cause MCD type I and type II in Iceland.
Molecular vision 02/2006; 12:1148-52. · 2.20 Impact Factor
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ABSTRACT: The aim of this study was to examine the carbohydrate sulfotransferase 6 (CHST6) gene for mutations in a sibship with both macular corneal dystrophy (MCD) types I and II.
Clinically relevant laboratory investigation.
The coding region of the CHST6 gene was examined for mutations.
In one sibling, MCD type I was due to a homozygous C1110T (Arg140end) mutation in CHST6. Two MCD type II individuals exhibited three heterozygous nucleotide changes: C1110T, G1360A (Gly223Asp), and G1685T (Gln331His). Analysis of the upstream region was performed on one individual with MCD type II, and no upstream deletion or substitution was found.
These findings fit the haplotype analysis that we reported previously and indicate that the predicted protein that is encoded by CHST6 is more severely affected in the individual with MCD type I than in the siblings with MCD type II.
American Journal of Ophthalmology 07/2005; 139(6):1118-20. · 4.22 Impact Factor
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ABSTRACT: To study whether Chinese patients with various corneal dystrophy carry mutations in BIGH3 gene.
Genomic DNA was extracted from Chinese patients with Avellino corneal dystrophy (ACD, 10 cases), Reis-Bücklers corneal dystrophy (CDRB, 2 cases), granular corneal dystrophy (GCD, 3 cases) and 5 control subjects. The exons 4 and 12 of BIGH3 gene were amplified by PCR and the product was sequenced directly.
All 15 patients carried mutations in BIGH3 gene, R124H in 10 cases with ACD, R124L in 2 cases with CDRB and R555W in 3 cases with GCD.
Corneal lesions in all 15 Chinese patients clinically diagnosed with corneal dystrophies are caused by mutations in BIGH3 gene. Dose-effect analysis shows that corneal lesions are more severe in homozygous patients than those in heterozygous cases and that clinical manifestation of patients with R124L mutation is more severe than that of patients with R124H mutation.
[Zhonghua yan ke za zhi] Chinese journal of ophthalmology 11/2003; 39(10):582-6.
