Objective
To investigate the polymorphism of the vitamin D receptor gene (VDR)TaqⅠin relation to diabetic retinopathy.
Method
Fragment length discrepant allele specific PCR(FLDAS-PCR) were used to determine VDR genetypes in 158 patients with diabetic retinopathy and in 198 normal subjects.
Results
The frequency distribution of VDR genotypes in diabetic retinopathy patients was 106 (67.1%) in TT, 33(20.9%) in Tt, 19(12.0%) in tt; and in normal persons was 165 (83.3%) in TT, 23(11.6%) in Tt, 10 (5.1%) in tt. There was a significant difference between diabetic retinopathy patients and normal persons in distribution of VDR gene TaqⅠgenotypes(Plt;0.05).
Conclusions
There is some distribution alterations of VDR gene polymorphism in diabetic retinopathy patients.
(Chin J Ocul Fundus Dis, 2006, 22: 94-96)
Objective To observe the mutation frequency and the characteristics of rentinitis pigmentosa (RP)1 gene in the Chinese patients with autosomal dominant (AD) RP or sporadic RP (SRP), and to evaluate their potential effects on the pathogenesis of RP. Methods Fifty-five members from 7 Chinese families with ADRP, 30 patients with SRP, and 75 healthy adults were recruited. Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the sequence mutation in the entire coding region and splice sites of RP1 gene. Univariate analysis and multivariate analysis were used to detect the effect of RP1 gene mutation sites on RP. Results Four coding sequence variants were detected in the codes of 852，872，921 and 939 at the exon 4 of RP1 gene. The R872H alteration, which was found in both ADRP families and patients with SRP, showed positive correlation with RP confirmed by the multivariate logistic regression analysis. The P903L alteration was only found in ADRP families but not in the patients with SRP or the healthy adults. Conclusions The R872H alteration in the RP1 gene is likely to increase the risk of RP, and may be a susceptible gene of RP. Whether the P903L alteration is a diseasecausing factor needs to be further studied.
ObjectiveTo systematically evaluate the association between Toll like receptor 2 (TLR2) gene I/D polymorphism and the risk of cancer.
MethodsWe searched PubMed, EMbase, The Cochrane Library (Issue 7, 2015), CBM, CNKI, VIP and WanFang Data to collect case-control studies about the association between TLR2 gene I/D polymorphism and the risk of cancer from inception to July 2015. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was conducted using RevMan 5.3 software.
ResultsA total of 11 case-control studies involving 3 250 cancer patients and 4 332 controls were included. The results of meta-analysis showed that significant association was found between TLR2 gene I/D polymorphism and the risk of cancer (DD+DI vs. Ⅱ:OR=1.60, 95%CI 1.13 to 2.27, P=0.009; DD vs. Ⅱ+DI:OR=1.73, 95%CI 1.13 to 2.66, P=0.01; DD vs. Ⅱ:OR=1.99, 95%CI 1.22 to 3.24, P=0.006; DI vs. Ⅱ:OR=1.52, 95%CI 1.09 to 2.11, P=0.01; D vs. I:OR=1.54, 95%CI 1.14 to 2.09, P=0.005).
ConclusionTLR2 gene L/D polymorphism may be associated with cancer risk. Due to the limited quantity and quality of included studies, the conclusion should be verified in further studies.
ObjectiveTo investigate the relationship of the age-related maculopathy susceptibility 2 (ARMS2) A69S polymorphism and polypoidal choroidal vasculopathy (PCV), and to explore the distribution of risk allele in PCV and exudative age-related macular degeneration (wAMD).
MethodsThis is a systemic review and meta-analysis. A literature research was performed in Pubmed, Embase, Web of Knowledge, Chinese national Knowledge Infrastructure and Wanfang Medicine Database by the key words of "ARMS2, LOC387715, A69S, rs10490924, age related macular degeneration, polypoidal choroidal vasculopathy, single nucleotide polymorphism". Case-control studies were included, while review, case report, or systemic reviews were excluded. The latest one of multiple articles was included only which published by the same group. The results of individual studies were pooled using the software Review Manager 5.1.4, and the correlation between allele frequencies, genotype and phenotype were analyzed.
ResultsA total of 14 articles, consisting 2007 PCV patients, 1308 wAMD patients and 3286 controls were recruited. The pooled odds ratio (OR) in random-effects models for genotype TT versus wild homozygous genotype GG is 5.20 (95% CI: 3.90-6.95). Heterozygous genotype GT mildly increased the risk in affecting PCV, and the OR of GT versus GG is 1.85 (95% CI: 1.42-2.40. The frequency of T allele in wAMD was higher than in PCV, pool OR=1.60 (95% CI: 1.31-1.96).
ConclusionsThe ARMS2 A69S variant is associated with PCV. Genotypes of TT and GT had an effect in increasing the risk of PCV, and the effect is even greater in genotype of TT. T allele had an effect in increasing the risk of PCV and wAMD, and the risk for wAMD is slightly greater than for PCV.
Objectives To evaluate the relationships between the Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of cardiovascular diseases (CVDs). Methods Databases including PubMed, Web of Science, CNKI, WanFang Data and VIP were searched from inception to December 31st 2017 to collect case-control studies on relationships between Scavenger Receptor Class B1 (SCARB1) polymorphisms and susceptibility of CVDs. Paper screening, data extraction and assessment of risk of bias were carried out. Meta-analysis was then conducted by Stata 12.0 software. Results In total, 12 studies relevant to SCARB1 rs5888C/T, rs4238001 G/A and rs10846744 G/C polymorphisms were included. Meta-analysis showed that there was no significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.97, 95%CI 0.86 to 1.09, P=0.627), neither for the rs4238001 G/A (G vs. A: OR=0.87, 95%CI 0.64 to 1.17, P=0.344). However, the rs10846744 G/C polymorphism was significantly associated with CVDs risk (G vs. C: OR=1.30, 95%CI 1.11 to 1.52, P=0.001). Subgroup analysis showed that, for non-Asian subjects, there was a significant association between the rs5888 C/T polymorphism and susceptibility of CVDs (C vs. T: OR=0.82, 95% CI 0.68 to 0.99, P=0.040). Conclusions SCARB1 rs10864744 G/C polymorphism could be associated with risk of CVDs. Considering the quantity and quality limitation of the included studies, the conclusion has to be verified by more large-scale high quality studies.
ObjectiveTo observe the relationship between the response to anti-vascular endothelial growth factor (VEGF) drug treatment and single nucleotide polymorphism (SNP) genotype in patients with wet age-related macular degeneration (wAMD). MethodsA retrospective clinical study. From August 2019 to September 2020, 103 eyes of 103 wAMD patients diagnosed in Tianjin Medical University Eye Hospital were included in the study. Among them, there were 59 males (57.28%, 59/103) and 44 females (42.72%, 44/103); the average age was 68.74±7.74 years. The standard logarithmic visual acuity chart was used to detect the Best Corrected Visual Acuity of the affected eye and converted to the logarithmic minimum angle of resolution (logMAR) visual acuity during statistics. Optical coherence tomography was used to detect the central retinal thickness (CRT) of the affected eye. At the same time, the patient's high-density lipoprotein cholesterol (HDL-C) was tested. All eyes were treated with intravitreal injection of anti-VEGF drugs once a month for 3 months. Before the initial treatment, peripheral venous blood from the patient were collected. Interleukin-8 (IL-8), complement C3 gene (C3), complement factor H (CFH), liver lipase (LIPC), cholesterol ester transfer protein (CETP), ATP binding cassette subfamily a member 1 (ABCA1), lipoprotein lipase (LPL), fatty acid desaturation gene cluster (FADS1) SNP. According to gene frequency, genotypes are divided into wild type and mutant type were detected. Qualitative data such as the frequency difference of the genotype distribution in the clinical phenotype and the Hardy-Weinberg equilibrium of the genotype distribution were compared with the Chi-square test or Fisher's exact test. ResultsThere were fewer CRT responders in IL-8 rs4073 mutant (TA+AA) patients than wild-type (TT) [odds ratio (OR)=0.310, 95% confidence interval (CI) 0.106-0.910, P＜0.05). Among them, after the drug stratification test, the proportion of patients with IL-8 rs4073 locus TT genotype in the conbercept treatment group was less CRT non-responders (OR=0.179, 95% CI=0.034-0.960, P=0.033). Patients with LIPC rs2043085 mutant (CT+TT) with BCVA increased ≥0.2 logMAR are more likely than wild-type (CC) (OR=3.031, 95% CI 1.036-8.867, P＜0.05); HDL-C level was significantly lower Compared with wild type (CC), the difference was statistically significant (t=2.448, P=0.016). There was no significant difference in logMAR BCVA and CRT between IL-8 rs4073, LIPC rs2043085 mutant and wild-type patients before treatment (IL-8 rs4073: Z=－0.198, －1.651; P=0.843, 0.099; LIPC rs2043085: Z=－0.532, －0.152; P=0.595, 0.879). C3 rs 225066, CFH rs800292, CETP rs708272, ABCA1 rs1883025, FADS1 rs174547, LPL rs12678919 have no correlation with anti-VEGF drug treatment response. Conclusions Patients with wAMD are treated with anti-VEGF drugs. Those with IL-8 rs4073 locus A genotype may be less responsive to CRT. LIPC rs2043085 locus T genotypes may be relatively more responsive to BCVA.
ObjectiveTo systematically review the association between LIG4 gene T9I polymorphism and cancer susceptibility.
MethodsSuch databases as PubMed, EMbase, The Cochrane Library (Issue 10, 2013), CBM, CNKI, VIP and WanFang Data were electronically searched to collect case-control studies published up to Oct. 2013 on the association between LIG4 gene T9I polymorphism and cancer susceptibility. According to inclusion and exclusion criteria, two reviewers independently screened literature, extracted data, and assessed methodological quality of included studies. Then meta-analysis was performed using RevMan 5.0 software.
ResultsA total of 11 case-control studies were included, which involved 5 016 cancer cases and 4 860 controls. The results of meta-analysis showed that, no significant association was found between LIG4 gene T9I polymorphism and the risk of cancer in the total analysis (TT+CT vs. CC:OR=0.96, 95%CI 0.80 to 1.15, P=0.63; TT vs. CT+CC:OR=1.10, 95%CI 0.78 to 1.56, P=0.59; TT vs. CC:OR=1.10, 95%CI 0.73 to 1.64, P=0.65; CT vs. CC:OR=0.94, 95%CI 0.80 to 1.11, P=0.48; T vs. C:OR=0.97, 95%CI 0.82 to 1.15, P=0.75). In the subgroup analysis, significant association was found in Caucasians (TT+CT vs. CC:OR=0.87, 95%CI 0.77 to 0.98, P=0.02) but not in Asians.
ConclusionLIG4 gene T9I polymorphism could be associated with cancer susceptibility in Caucasians.
Objective To investigate the relationship between p53 codon 72 polymorphism and susceptibility to keloid. Methods The p53 genotypes were detected by polymerase chain reactionreverse dot blot(PCRRDB) and DNA direct sequencing among 15 healthy controls and 15 patients with keloid. Results The frequency of the Proallele(P=0.035) and Pro/Pro genotype(P=0.030) in patients was significantly higher than that in the controlls. There was no significant difference in the frequency of Pro/Arg and Arg/Arg genotypes between patients and controls. Conclusion The p53 gene codon 72 polymorphism may play a role in susceptibility to keloid.
Objective To determine the genotype distribution of methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G involved in the folic acid biosynthetic pathway among Chinese Han women in Sichuan, so as to provide pregnant women with guidance of supplementing folic acid. Methods By means of Taqman-MGB, 2382 samples from Deyang region in Sichuan province were tested for detecting the genotype distributions and allele frequencies of MTHFR C677T, MTHFR A1298C and MTRR A66G polymorphisms, and then the results were compared with published data in Shandong, Henan and Hainan provinces. Results The allele frequencies of MTHFR C677T were 63.45 and 36.55, those of MTHFR A1298C were 78.20 and 21.80, and those of MTRR A66G were 72.81 and 27.19. There were significant differences in allele distribution of MTHFR C677T and A1298C between Sichuan Han women and other region population. Conclusion This study suggests that the polymorphism of MTHFR C677T and A1298C exhibits region heterogeneity. The polymorphisms of MTHFR may play a role in neural tube defects (NTDs) risk, so periconceptional folic acid supplementation and healthcare following gene polymorphism testing may be a powerful measure to decrease congenital malformations of the central nervous system.
Objective To investigate the association between parkin gene S/N167 polymorphism and the risk for Parkinson’s Disease (PD) using the methods of meta-analysis. Method References were retrieved through the computerized Medline, Cochrane Library and CBM search from 1998 to 2003. Similar search strategies were applied to each of these databases. The unpublished data of our study were also included.Studies eligible for this meta-analysis should meet the following inclusion criterias: ① presentation of original data and a cross-sectional design. ② PD as the outcome of interest. ③ an odds ratio (or enough information to calculate it) reported to quantify the association between the frequencies of genotypes and alleles of parkin gene S/N167 polymorphism and the risk for PD. All analyses were conducted with ’Review Manager’ Version 4.2 software. Results A total of 1 239 PD patients and 1 168 control studies were studied. The combined data statistics revealed the frequencies of the genotypes and alleles were higher, but showed no statistically difference, for the total PD group from that ofthe control group (Z=1.57, P=0.12). After stratification according to eastern or western origin, the frequencies of G/A+A/A genotype and a allele of eastern origin were significantly higher [test for overall effect: P=0.01, OR=1.41, 95%CI= (1.08 to1.83); P=0.01, OR=1.25, 95%CI= (1.08 to1.44), respectively] in the PD group than that in the control group. After including our unpublished data, the results remained constant, and the trend was much more pronounced. Conversely, there was no difference [test for overall effect: P=0.08, OR=0.55, 95%CI= (0.30 to1.02); P=0.08, OR=0.55, 95%CI= (0.28 to1.08)] in the frequencies of allele and genotype of western origin between the PD patients and the controls. Conclusions The meta-analysis suggests that the parkin gene S/N167 polymorphism might be a genetic risk factor for PD of eastern origin, but not a definite risk for PD of western origin.
