The association of lumican polymorphisms and high myopia in a Southern Chinese population

AIM: To investigate the correlation between lumican (LUM) gene and high myopia in a Southern Chinese population. METHODS: The study comprised of 95 high myopia patients with a spherical equivalent ≤?6.5 diopters (D). The control group recruited 95 individuals with a spherical equivalent ranging from ?0.5 D to +0.5 D. Direct sequencing was used to detect the single nucleotide polymorphisms (SNPs) of LUM gene in coding region. Genotype distributions were tested for Hardy-Weinberg disequilibrium. Genotypic and allelic frequencies were analyzed through Chi-square test or Fisher’s exact test. RESULTS: We identified 3 SNPs of the LUM gene: LUM c.32 (rs577456426), LUM c.507 (rs17853500) and LUM c.849 (rs181915277). Among the three SNPs, the genotype and allele frequencies of rs17853500 showed a significant difference between patients and control subjects (P<0.05). However, there were no significant differences in rs181915277 and rs577456426 between the two groups (P>0.05). CONCLUSION: LUM c.507 polymorphism may be a risk factor for the pathogenesis of high myopia in the Southern Chinese population.     

Absence of an association between lumican promoter variants and high myopia in the Korean population

Purpose: To determine the association of single nucleotide polymorphisms (SNPs) in the promoter region of the lumican (LUM) gene with high myopic Korean patients.

Methods: Genomic DNA samples were obtained from 128 unrelated Korean patients with high myopia who had refractive errors ≤ ?9.25 and axial lengths ≥ 26.5?mm in both eyes, and 235 control subjects. We investigated two promoter SNPs of the LUM gene.

Results: For the rs3759222, the C/C genotype was less prevalent in the high myopia group compared to the control group (46.1% vs. 53.2%); however, there was no statistical significance (p = 0.068, OR = 0.754, 95% CI: 0.491–1.159). The “C” allele frequency in the high myopia group (68.0%) was slightly lower than the control group (72.6%), but this difference was not statistically significant (p = 0.061, OR = 0.810, 95% CI:0.582–1.126). For the rs3759223, the genotype frequencies of T/T, T/C, and C/C were 67.2%, 26.6%, and 6.2%, respectively, in the high myopia group and 64.7%, 30.6%, and 4.7 %, respectively, in the control group. The allele frequency of T was 80.5% in the high myopia group and 80.0% in the control group (p = 0.077, OR = 1.03, 95% CI: 0.703–1.508). There were no significant differences in the distribution of genotype and allele frequencies for the two promoter SNPs tested.

Conclusions: The current study did not support an association between the promoter SNPs of the LUM gene with high myopia in the Korean population.     

Association of IGF1 polymorphism rs6214 with high myopia: A systematic review and meta-analysis

Purpose: To conduct a comprehensive evaluation of the association of Insulin-like growth factor 1 (IGF1) polymorphism rs6214 with high myopia through a systematic review and meta-analysis of candidate genetic association study.

Methods: All case-control association studies on IGF1 and high myopia reported up to 15 June 2016 in PubMed, Embase, Web of Science, and the Chinese Biomedical Database were retrieved. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were calculated for single-nucleotide polymorphism (SNP) using fixed and random effects models according to between study heterogeneity. Publication bias analyses were conducted using Begg’s test.

Results: A total of eight studies from published articles were included in our analysis. The meta-analyses for IGF1 rs6214, composed of 4242 high myopia patients and 4430 controls, showed low heterogeneity for the included populations in all the genetic models, except that of the allelic genetic model in the pooled populations. The analyses of all the genetic models in Chinese, Japanese, and overall pooled populations did not identify any significant association between high myopia and IGF1 rs6214.

Conclusions: This meta-analysis showed there was no association detected between IGF1 rs6214 and high myopia. Given the limited sample size, further investigations including more ethnic groups are required to validate the association.     

中国汉族高度近视患者与正常人CTNND2基因单核苷酸多态性的病例对照研究

背景 高度近视是致盲的主要原因之一,迄今尚未找到明确的致病基因,最近报道了一个新加坡人高度近视新的易感位点,CTNND2基因的两个单核苷酸多态性(SNPs)(rs12716080和rs6885224)位点,但其与汉族高度近视的发病是否有关尚不清楚.目的 研究CTNND2基因SNPs位点与中国汉族高度近视发病的相关性.方法 采用病例对照关联研究设计方法.收集933例高度近视患者(高度近视组)和年龄及性别匹配的1227名屈光状态和眼轴长度在正常范围的正常对照者(正常对照组)的外周血各5 ml,并提取基因DNA,用聚合酶链反应(PCR)法扩增目的DNA,采用单碱基延伸(SNaPshot)法进行DNA纯化.选取CTNND2基因的4个标签SNPs,包括已有报道的rs12716080位点和rs6885224位点,分析其与高度近视的相关性.结果 CTNND2基因4个标签SNPs,rs6885224、rs12716080、rs917012、rs16901340的基因型均符合Hardy-Weinberg平衡(HWE) (P=0.181、0.085、0.732、0.313、0.264、0.663、0.084、0.196),高度近视组和正常对照组rs12716080、rs917012、rs6885224、rs16901340 SNPs的基因型频率相比差异均无统计学意义(P=0.654、0.406、0.828、0.403),其等位基因频率在高度近视组与正常对照组间差异均无统计学意义(P=0.377、0.209、0.743、0.198).通过Haploview单体型分析发现,rg12716080和rs917012位于同一个连锁不平衡区域,高度近视组与正常对照组单体型TA的频率(0.784 vs.0.719)和GA的频率(0.087 vs.0.136)比较差异均有统计学意义(x2=6.115,P=0.013;x2 =6.634,P=0.010),而两组间单体型GG的频率比较差异无统计学意义(0.123vs.0.143,x2 =0.889,P=0.346).结论 CTNND2基因rs12716080、rs917012、rs6885224、rs16901340 SNPs与高度近视不相关,但rs12716080位点和rs917012位点的单体型与高度近视相关.     

Association of genetic variants at MYP10 and MYP15 with high myopia in a Han Chinese population

Background: Previous genome-wide association study (GWAS) has revealed the association between MYP10 at 8p23 and MYP15 at 10q21.1 and high myopia (HM) in a French population. This study is managed to discover the connection between some single nucleotide polymorphism (located at MYP10 and MYP15) and Han Chinese HM.

Methods and Results: This case-control association study contained 1673 samples, including 869 ophthalmic patients and 804 controls. Twelve tag SNPs have been selected from the MYP10 and MYP15 loci and genotyped by SNaPshot method. Among 12 SNPs, rs4840437 and rs6989782 in TNKS gene were found significant association with HM. Carriers of rs4840437G allele and rs4840437GG genotype created a low risk of high myopia (P = .036, OR = 0.81, 95%CI = 0.71–0.93; P = .016, OR = 0.73, 95%CI = 0.56–0.96; respectively). Carriers of rs6989782T allele and rs6989782TT+CT genotype also had a decreased risk of high myopia (P = .048, OR = 0.82, 95%CI = 0.71–0.94; P = .006, OR = 0.74, 95%CI = 0.59–0.92; respectively). Other 10 SNPs displaced nonsignificant association with HM. Additionally, the risk haplotype AC and the protective haplotype GT, generated by two SNPs in TNKS, were considerably more likely to be association with HM (for AC, P = .002 and OR = 1.26; for GT, P = .027 and OR = 0.84).

Conclusions: Our results demonstrated that some heritable variants in the TNKS gene are associated with HM in the Han population. The possible functions of TNKS in the development and pathogenesis of hereditary high myopia still require further researches to identify.     

Correlation between polymorphisms in the MFN1 gene and myopia in Chinese population

AIM: To explore whether genetic variations in the MFN1 gene are associated with low to moderate myopia in Chinese population. METHODS: The case-control association analysis was used. The study included 100 independent myopia patients (-0.75 D ≤ spherical refraction ≤-8.00 D) and 100 sex-matched healthy controls (with binocular spherical equivalent ranges between -0.50 D and +0.50 D). Four single nucleotide polymorphism (SNP) tags (rs3976523, rs13098637, rs6762399 and rs7618348) were selected for genotyping by direct sequencing. The frequencies of genotypes and their alleles were calculated based on the number of SNP genotypes in each sample. The Chi-square test was used to examine the difference in the frequency between the myopia cases and controls. RESULTS: Genotype distributions in the four SNPs were all in accordance with the Hardy-Weinberg equilibrium; analysis showed that rs13098637 was significantly associated with low to moderate myopia (P=0.003 and empirical P=0.010). There were no statistically significant differences observed for the genotype or allele frequencies of the other three SNPs between the myopia cases and controls in the Chinese population in this study. CONCLUSION: The current study has revealed that the C allele of rs13098637 in MFN1 had a significant association with low to moderate myopia.     

角膜曲率相关基因多态性与中国汉族人群高度近视的关系

背景 高度近视是患者视力障碍的主要因素之一,高度近视的防治是目前研究的热点,而角膜曲率异常是近视发病的重要因素.全基因组关联研究(GWAS)证实多个基因与角膜曲率改变有关,但角膜曲率相关基因与高度近视发生和发展的关系尚不十分清楚. 目的 探讨角膜曲率相关基因雷帕霉素靶蛋白基因(MTOR)的rs74225573位点、胞嘧啶核苷磷酸激酶基因1(CMPK1)的rs60078183位点、血小板衍生生长因子受体α基因(PDGFRA)的rs 1800813位点和视黄醇结合蛋白基因3(RBP3)的rs11204213位点与中国汉族人群高度近视发病的关联性.方法 采用前瞻性队列研究方法,于2012年2月至2013年8月在四川省人民医院眼科纳入高度近视患者483例,屈光度右眼为(-10.84±4.69)D,左眼为(-10.35±4.67)D;眼轴长度右眼为(28.15±2.27)mm,左眼为(27.72±2.51) mm.同期纳入年龄和性别匹配的519名正常志愿者作为对照.所有受检者均为汉族且无亲缘关系.采集受检者外周静脉血4 ml提取DNA,根据NCBI网站获取的rs74225573、rs60078183、rs1800813和rs11204213位点信息利用primer 3.0在线设计引物,采用实时定量PCR法对4个SNPs位点进行扩增并用遗传分析仪进行基因分型,分析其与高度近视的关系. 结果 4个SNPs位点的基因型分布均符合哈迪-温伯格平衡(HWE),证实本研究的资料具有群体代表性.高度近视组与正常对照组间rs74225573、rs60078183和rs11204213最小等位基因频率(MAF)的差异均无统计学意义(rs74225573:P年龄矫正=0.935,OR=0.98;rs60078183:P年龄矫正=0.782,OR=1.04;rs11204213:P年龄矫正=0.058,OR=1.66),高度近视组rs1800813的MAF明显高于正常对照组,差异有统计学意义(P年龄矫正=0.001,OR=0.64).加性模型1(AB与BB比较)、加性模型2(AA与BB比较)、显性模型(AA+AB与BB比较)、隐性模型(AA与AB+BB比较)4种统计学模型分析显示,高度近视组与正常对照组间rs74225573、rs60078183和rs11204213基因型频率的差异均无统计学意义(均P＞0.05),加性模型1和显性模型分析显示高度近视组与正常对照组间rs 1800813位点基因型频率的差异均有统计学意义(加性模型1:P=0.002,OR=0.59;显性模型:P=0.001,OR=0.58). 结论 rs74225573(MTOR)、rs60078183(CMPK1)和rs11204213(RBP3)SNP与中国汉族人群高度近视无明显关联性,而rs1800813(PDGFRA)SNP与中国汉族人群高度近视显著相关.     

Association of IGF1 and IGF1R gene polymorphisms with high myopia in a Han Chinese population

Objectives: Insulin-like growth factor 1 (IGF1) and insulin-like growth factor 1 receptor (IGF1R) have been shown to influence the development of form-deprivation myopia. However, genetic association between these two genes and high myopia remains inconsistent in different studies. This study was conducted to investigate the association between IGF1and IGF1R and high myopia in a Han Chinese population.

Methods: Fourteen single nucleotide polymorphisms (SNPs) in the IGF1 and IGF1R genes were genotyped by SNaPshot method in a Han Chinese subject group composed of 1244 high myopia patients and 1380 controls. The genotyping data was analyzed by χ² test and the linkage disequilibrium block structure was examined by Haploview software.

Results: There were no statistically significant differences in the allele frequencies of IGF1 and IGF1R SNPs and genotypes between patients and controls after Bonferroni multiple-correction (p > 0.05). However, the G allele of rs35766 in the IGF1 gene showed a protective effect for high myopia (p = 0.015, corrected p = 0.21, odds ratio [OR] = 0.77, 95% CI = 0.70–0.97). The carriers of rs35766GG and rs35766GG+AG genotypes displayed a decreased risk of high myopia compared with rs35766AA carriers (p = 0.012, OR = 0.65, 95% CI = 0.47–0.91; p = 0.019, OR = 0.68, 95% CI = 0.50–0.94, respectively).

Conclusions: Genetic variants in the IGF1 and IGF1R genes might not be associated with high myopia in Han Chinese. Further studies are needed to verify the possible function of IGF1 and IGF1R in the development of myopia.     

Genetic association of COL1A1 polymorphisms with high myopia in Asian population: a Meta-analysis

AIM: To comprehensively evaluate the potential association of COL1A1 polymorphisms with high myopia by a systematic review and Meta-analysis. METHODS: All association studies on COL1A1 and high myopia reported up to June 10, 2014 in PubMed, Embase, Web of Science, and the Chinese Biomedical Database were retrieved. Odds ratios (ORs) and 95% confidence intervals (95% CIs) were analyzed for single-nucleotide polymorphisms (SNPs) using fixed- and random- effects models according to between-study heterogeneity. Publication bias analyses were conducted by Egger’s test. RESULTS: A total of four studies from reported papers were included in this analysis. The Meta-analyses for COL1A1 rs2075555, composed of 2304 high myopia patients and 2272 controls, failed to detect any significant association with high myopia. A total of 971 cases and 649 controls were tested for COL1A1 rs2269336. The association of COL1A1 rs2269336 with high myopia was observed in recessive model (CC vs CG+GG, P=0.03) and in heterozygous model (CG vs GG, P=0.04), but not in other models. CONCLUSION: This Meta-analysis shows that COL1A1 rs2269336 (CC vs CG+GG) affects individual susceptibility to high myopia, whereas there is no association detected between SNPs rs2075555 and high myopia. Given the limited sample size, further investigations including more ethnic groups are required to validate the association.     

高度近视儿童中未检测到TIGR基因突变

目的:在具有家族史的高度近视儿童中进行TIGR基因突变筛查。方法:对高度近视儿童中TIGR基因第三外显子进行毛细血管电泳测序检测,并对结果进行序列分析。结果:在近视组和对照组中均未发现TIGR基因突变。结论:未能发现TIGR基因突变与高度近视相关证据。     

The relationship between methylenetetrahydrofolate reductase C677T polymorphism and diabetic retinopathy: A meta-analysis in multiethnic groups

Background: Many studies have analyzed the association between methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism and diabetic retinopathy (DR), however, the results remained inconclusive. We therefore aim to address this association by performing a meta-analysis in multiethnic groups. Methods: Related studies were identified from PubMed and Chinese databases up to October 2016. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used to assess the strength of the associations.Results: A total of 20 studies including 1860 DR cases and 3646 controls were involved in this meta-analysis. In the overall population, we found that MTHFR C677T polymorphism was significantly associated with an increased risk of DR for each genetic model. In this meta-analysis stratified by ethnicity, significantly increased risk of DR with the MTHFR C677T variants was found in the Chinese, Japanese, and Turks populations.Conclusions: Our study suggested that the MTHFR C677T polymorphism may contribute to DR development in multiethnic groups. Studies with larger sample sizes and wider spectrum of populations are warranted to verify this finding.     

早产儿视网膜病变易感性与血管内皮生长因子-A+405和-A936基因多态性的相关性

目的 探讨早产儿视网膜病变(ROP)易感性与血管内皮生长因子(VEGF)-A+ 405和VEGF-A936基因多态性的相关性。方法 99例ROP患儿（ROP组）和80例非ROP早产儿（对照组）纳入本研究。两组受检者的出生年龄、出生体重及给氧时间之间差异均无统计学意义(P＞0.05)。取得所有受检者监护人的知情同意后,抽取外周静脉血2 ml。采用焦磷酸测序法检测VEGF-A+ 405和VEGF-A936基因多态性表型、等位基因和基因频率。分析ROP与VEGF-A+ 405和VEGF-A936基因多态性的相关性。结果 VEGF-A+ 405存在CC、GG、CG 3种基因型,VEGF-A936存在CC、CT 2种基因型。ROP组VEGF-A+405位点C、G等位基因分别为92、106,基因频率分别为46.5％,53.5％;对照组VEGF-A+405位点C、G等位基因分别为90、70,基因频率分别为56.2％,43.8％;两组比较,差异无统计学意义(X2=3.396,P=0.066)。相关性分析发现,VEGF-A+ 405基因多态性与ROP发生无相关性(OR=0.675,OR95％ CI=0.444,1.026)。ROP组VEGF-A936位点T、C等位基因分别为32、166,基因频率分别为16.2％,83.8％;对照组VEGF-A936位点T、C等位基因分别为16、144,基因频率分别为1o.o％,90.0％;两组比较,差异无统计学意义(X2 =2.894,P=0.089)。相关性分析发现,VEGF-A936基因多态性与ROP发生无相关性(OR=0.768,OR95％ CI=0.711,0.829)。结论 VEGF-A+ 405和VEGF-A936基因多态性与ROP易感性无关。     

Mitomycin C application after photorefractive keratectomy in high,moderate, or low myopia: Systematic review and meta-analysis

Photorefractive keratectomy (PRK) is considered a safe approach laser procedure with a clinical significance in correcting myopia results. PRK requires removing the whole superficial epithelium. The integrity of the epithelial basement membrane and the deposition of abnormal extracellular matrix can put the cornea in a probable situation for corneal haze formation. Mitomycin C (MMC) is applied after excimer laser ablation as a primary modulator for wound healing, limiting corneal haze formation. We aim to summarize the outcomes of MMC application after laser ablation. We searched Scopus, PubMed, Cochrane CENTRAL, and Web of Science till December 2020 using relevant keywords. The data were extracted and pooled as mean difference (MD) or risk ratio (RR) with a 95% confidence interval (CI), using Review Manager software (version 5.4). Our analysis demonstrated a statistically significant result for MMC application over the control group in terms of corneal haze formation postoperatively (RR = 0.29, 95% CI: [0.19, 0.45], P < 0.00001). Regarding corrected distance visual acuity (CDVA), no significant difference was observed between the MMC group and the control group (MD = 0.02; 95% CI: [-0.04, 0.07]; P = 0.56). Regarding the uncorrected distance visual acuity (UDVA), the analysis favored the MMC application with (MD -0.03, 95% CI: [-0.06, -0.00]; P = 0.05). There was no statistically significant increase in complications with MMC. In conclusion, MMC application after PRK is associated with a lower incidence of corneal haze formation with no statistically significant side effects. The long term effect can show improvement regarding UDVA favoring MMC. However, there is no significant effect of MMCs application regarding CDVA, and SE.     

Vascular endothelial growth factor (VEGF-634G/C) polymorphism and retinopathy of prematurity: a meta-analysis

Purpose

Vascular endothelial growth factor polymorphism (VEGF-634G/C, rs 2010963) has been considered a risk factor for the development of retinopathy of prematurity (ROP). However, the results remain controversial. Therefore, the aim of the present meta-analysis was to determine the association between VEGF-634G/C polymorphism and ROP risk.

Methods

Published literature from PubMed and other databases were retrieved. All studies evaluating the association between VEGF-634G/C polymorphism and ROP risk were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random or fixed effects model. A total of six case-control studies including 355 cases and 471 controls were included.

Results

By pooling all the studies, we found that VEGF-634G/C polymorphism was not associated with ROP risk at co-dominant and allele levels and no association was also found in dominant and recessive models. While stratifying on ethnicity level no association was observed in Caucasian and Asian population.

Discussion

This meta-analysis suggests that VEGF-634G/C polymorphism may not be associated with ROP risk, the association between single VEGF-634G/C polymorphism and ROP risk awaits further investigation.     

Neurodegenerative Genes Polymorphisms of the -491A/T APOE,the -877T/C APP and the Risk of Primary Open-angle Glaucoma in the Polish Population

Background: Glaucoma is characterized by optic neuropathy of the retinal ganglion cell. It may be possible that β-amyloid (Aβ) and apolipoprotein E (APOE), the main proteins of the pathogenesis of AD, play a role in glaucoma development. The aim of this study was to evaluate a relationship between the APP and APOE gene polymorphisms and the risk of primary open-angle glaucoma (POAG) occurrence.

Materials and methods: The study consisted of 183 patients with POAG and 209 healthy subjects. Genomic DNA was extracted from peripheral blood. Analysis of the gene polymorphisms was performed using PCR-RFLP.

Results: We found a statistically significant increase of the -491?T allele frequency (p?=?0.02; OR?=?1.48; 95% CI?=?1.06–2.08) of APOE in POAG compared to healthy controls. There were no differences in the genotype and allele distributions and odds ratios of the APP polymorphism between patients and controls group. We also found an association between APOE polymorphic variant and retinal nerve fiber layer (RNFL). There was a statistically significant difference in the APOE gene A/T genotype frequency in the early POAG stage and middle-advanced POAG stage in comparison to the advanced POAG stage (p?=?0.04; OR?=?3.38; 95% CI?=?1.04–10.97).

Conclusions: The -491?T allele of APOE polymorphism may be associated with a risk of POAG occurrence in the Polish population.     

The association between matrix metalloprotease-9 gene polymorphisms and primary angle-closure glaucoma in a Chinese Han population

AIM:To examine the association between the single nucleotide polymorphisms (SNPs) of matrix metalloprotease-9 (MMP-9) gene and primary angle-closure glaucoma (PACG) in a Chinese Han population.METHODS: DNA samples were extracted from peripheral-blood mononuclear cells of 214 PACG patients and 224 healthy controls. Genotyping of rs3918249, rs3918254, rs17577 and rs3787268 in MMP-9 was performed using polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) analysis and the direct sequencing technique. The association between these genetic polymorphisms and risk of PACG was estimated by χ² test.RESULTS: The distributions of rs3918249, rs3918254, rs17577 and rs3787268 genotypes among cases and healthy controls were compatible with that from Hardy-Weinberg equilibrium (HWE, P>0.05).The increased frequency of CC and CT genotypes of rs3918254 were observed in PACG patients compared to healthy controls [P=0.006, Pcorrected (Pcorr)=0.048]. The haplotype analysis showed that the CCGG haplotype was nominal associated with PACG (P=0.015), however, the significant was lost when the Bonferroni correction was used (Pcorr=0.105).CONCLUSION:Our results revealed that rs3918254 in MMP-9 may be a susceptible locus to PACG in China, people with the CC and CT genotypes of rs3918254 are more susceptible to PACG. The susceptibility to PACG in Chinese Han patients may be not influenced by SNPs rs3918249, rs3787268 and rs17577 in MMP-9.     

Association of vascular endothelial growth factor -634G/C and receptor for advanced glycation end products G82S gene polymorphisms with diabetic retinopathy

AIM: To investigate the association of receptor for advanced glycation end products (RAGE) G82S and vascular endothelial growth factor (VEGF) -634 G/C gene polymorphisms with diabetic retinopathy (DR). METHODS: Our cross-sectional study included 61 diabetic patients, 12 of them had proliferative diabetic retinopathy (PDR), 15 had non proliferative diabetic retinopathy (NPDR), 34 had no diabetic retinopathy (NDR) and 61 healthy controls. Participants were tested for RAGE G82S and VEGF -634 G/C polymorphisms by polymerase chain reaction-restriction fragment length polymorphism. RESULTS: We found a significant association between VEGF -634 G/C polymorphism and PDR as PDR patients had increased incidence of VEGF -634 CC genotype compared to NDR patients [odds ratio for CC vs (GC+GG)=6.5, 95% CI=1.5-27.8, P=0.021]. Also VEGF -634 CC genotype and C allele were significantly higher in the PDR than in NPDR patients, which is a novel finding in our study (P=0.024, 0.009 respectively). The mean triglycerides level was significantly higher in diabetic patients with CC genotype (P=0.01) as compared to patients with other genotypes. All cases and control subjects were of the same heterozygous RAGE 82G/S genotype. CONCLUSION: Patients carrying VEGF -634 C polymorphism have a higher risk of PDR development, so VEGF -634 G/C polymorphism could be used as a predictive marker for PDR in diabetic patients. We could not find a significant association between RAGE G82S polymorphism and DR.     

Association between cystatin C and diabetic retinopathy among type 2 diabetic patients in China: a Meta-analysis

AIM: To explore the correlation between cystatin C (Cys-C) and diabetic retinopathy (DR) in those patients with type 2 diabetes mellitus (DM) in China. METHODS: Articles were collected from China National Knowledge Infrastructure (CNKI), Wanfang, VIP, PubMed, EMBASE, Cochrane Library, Clinical Trials.gov, and Google Scholar. Quality and risk of bias within included studies was assessed using the Newcastle-Ottawa scale (NOS). Heterogeneity was determined by using Cochran’s Q-test and Higgins I2 statistics. Mean differences (MDs) and 95% confidence intervals (CIs) of Cys-C within the diabetes without retinopathy (DWR) and DR, DWR and non-proliferative diabetic retinopathy (NPDR), NPDR and proliferative diabetic retinopathy (PDR) were collected by using random-effects model because of high heterogeneity. Meta-analysis was conducted based on 23 articles of 2331 DR including NPDR and PDR patients and 2023 DWR patients through Review Manager 5.3. Subgroup analyses were also performed according to DM duration, body mass index (BMI), total cholesterol (TC), total triglycerides (TG), low-density lipoprotein C (LDL-C), and high-density lipoprotein C (HDL-C), sample origins and methods. Publication bias was assessed by the funnel plot. RESULTS: Cys-C level in DR patients was increased compared with that of DWR (total MD: 0.69, 95%CI: 0.41 to 0.97, Z=4.79, P<0.01). Besides, the synthesized results of the studies showed the similar findings in the DWR vs NPDR group (total MD: 0.29, 95%CI 0.20 to 0.39, Z=6.02, P<0.01) and the NPDR vs PDR group (total MD: 0.63, 95%CI 0.43 to 0.82, Z=6.33, P<0.01). Heterogeneity of most of the subgroup analyses was still obvious (I2?≥?50%, P?相似文献   

Association between interleukin-10 genetic polymorphisms and risk of primary open angle glaucoma in a Chinese Han population: a case-control study

AIM: To investigate the association between interleukin-10 (IL-10) genetic polymorphisms and risk of POAG through a case-control study in a Han population of China. METHODS: A total of 210 patients with POAG and 420 normal subjects were recruited during the period from Dec. 2013 to Dec. 2016. The IL-10 -1082A>G (rs1800870), -819T>C (rs1800871) and -592C>A (rs1800872) polymorphisms were determined using iPlex GOLD SNP genotyping analysis (the SequenomMassARRAY® System, Sequenom, San Diego, USA). The association between IL-10 -1082A>G (rs1800870), -819T>C (rs1800871), and -592C>A (rs1800872) polymorphisms and risk of POAG was assessed by singlelogistic regression analysis. RESULTS: We observed that those carrying the CC genotype of rs1800871 was associated with an increased risk of POAG when compared with those harboring the TT genotype (OR=1.84, 95%CI=1.01-3.38). Those with AA genotype of rs1800872 had a 10.62 fold risk of POAG in comparison to the CC genotype (OR=10.62, 95%CI, 3.41-33.09). A completely linkage disequilibrium was found between IL-10 rs1800871-rs1800872 (D’=1.00, r2=0.16). The A-C-A (OR=2.60, 95%CI, 1.48-4.58) and G-T-A (OR=2.34, 95%CI, 1.42-3.86) haplotypes were associated with an increased risk of POAG, while the A-T-C haplotype showed a decreased risk of POAG (OR=0.63, 95%CI, 0.49-0.81). CONCLUSION: Our data suggest that IL-10 rs1800871 and rs1800872 can be predictive factors for the pathogenesis of POAG in the Chinese population.     

Association between the <Emphasis Type="Italic">8</Emphasis>-<Emphasis Type="Italic">oxoguanine DNA glycosylase</Emphasis> gene Ser326Cys polymorphism and age-related cataract: a systematic review and meta-analysis

Purpose

To investigate the association between the 8-oxoguanine DNA glycosylase (OGG1) gene Ser326Cys (rs1052133) polymorphism and age-related cataract (ARC).

Methods

MEDLINE and EMBASE were searched to identify potential studies published before May 19, 2017, investigating the association between the OGG1 gene Ser326Cys polymorphism and ARC risk. The quality of eligible studies was assessed using the Newcastle–Ottawa Scale tool. The association between the OGG1 gene Ser326Cys polymorphism and ARC was analyzed using meta-analysis. Publication bias and sensitivity analyses were also performed.

Results

Six studies were included in this systematic review, and five of these studies with Hardy–Weinberg equilibrium were included in a meta-analysis. The sample size of the meta-analysis was 3716, including 1831 patients with cataract and 1885 controls. Odds ratios (ORs) were 0.67 (95% confidence interval (CI) 0.52–0.85), 0.90 (95% CI 0.54–1.51), 0.52 (95% CI 0.32–0.85) and 0.72 (95% CI 0.56–0.92) for recessive, dominant, additive and allele contrast models, respectively. Sensitivity analysis indicated that the results of the meta-analysis were robust. No publication bias was observed.

Conclusions

The OGG1 gene Ser326Cys polymorphism was associated with ARC risk.