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.
Objectives To study the relationships between methylenetetrahydrofolate reductase(MTHFR ) gene polymorphism and diabetic retinopathy (DR) in Chinese Han race． Methods With polymerase chain reaction and restriction fragment length polymorphism (PCR-FLP), MTHFR gene 677 T mutation (cytosine is replaced by thymine in No. 677 site) was detected in 85 health controls, 62 with DR and 117 without DR of type 2 diabetics comfrimed by ophthalmoscope． Results The frequency of MTHFR variant genotypes and alleles of DR in Chinese Han race．patients were signigicantly higher than those without retinopathy and healthy controls (Plt;0．01)． Conclusions The results suggested that MTHFRgene C677T mutation was probably one of the genetic risk factors of diabetic retinopathy in Chinese Han rase． (Chin J Ocul Fundus Dis, 2001,17:198-200
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 investigate the correlation between retinopathy of prematurity（ROP） susceptibility and +405G/C and 936T/C polymorphism of vascular endothelial growth factor A（VEGF-A）gene. Methods 99 ROP infants（ROP group）and 80 premature infants（control group）were enrolled in this study. There was no difference of gestational age, birth weight and preoxygenation time between the ROP and control group (P＞0.05 ). The peripheral blood was collected, polymorphism genotypes and frequency of VEGF-A+405 and VEGF-A936 were measured by pyrosequencing. Results There are CC, GG, CG genotypes in VEGF-A+405 site, while CC, CT genotypes in VEGF-A 936 site. The VEGF-A+405 gene allele of C, G were 92,106 with the frequencies of 46.5%, 53.5% in the ROP group, and 90, 70 with the frequencies of 56.2%, 43.8% in the control group; the difference between two groups was not statistically significant (chi;2=3.396, P=0.066). There was no correlation between VEGF-A+405 polymorphism and ROP susceptibility (OR=0.675,OR95% CI=0.444, 1.026). The VEGF-A 936 gene allele of C, G were 32,166 with the frequencies of 16.2%, 83.8% in the ROP group, and 16, 144 with the frequencies of 10.0%, 90.0% in the control group; the difference between two groups was not statistically significant (chi;2=2.894, P=0.089). There was no correlation between VEGF-A 936 polymorphism and ROP susceptibility (OR=0.768, OR95% CI=0.711, 0.829). Conclusion There is no correlation between VEGF-A+405 or VEGF-A 936 polymorphism and ROP susceptibility.
Objective To determine the association between the geneti c polymorp hisms of vascular endothelial growth factor (VEGF) gene and the prognosis for retinopathy of prematurity (ROP) in Chinese. Methods Twenty infants with threshold ROP who had undergone retinal photocoagulation were in the treated group and 20 infants with self-regressed ROP without any treatment were in the control grou p . In the two groups, all the infants had oxygen-breathing history and the sex a n d gestational age were all suitable to be compared, except birth weight. Polymer ase chains reaction-restriction fragment length polymorphism was used to determine the frequencies of VEGF genes in the two groups. Results The frequencies of +405C allele were higher in the treated group than those in the control group (P＜0.05). The frequencies of the VEGF-460T/C and +936C/T ploymorphisms were similar in both groups (P＞0.05). Conclusions The +4 05C/G ge netic polymorphisms of VEGF may correlate to the prognosis of ROP. The carriers of +405CC allele are more susceptible to ROP.
ObjectiveTo systematically evaluate the association between eNOS gene a/b polymorphism and diabetic retinopathy susceptibility. MethodsPubMed, EMbase, The Cochrane Library (Issue 5, 2015), CBM, CNKI, VIP and WanFang Data were systemically searched from inception to May 2015, to collect case-control studies about the eNOS a/b polymorphism and diabetic retinopathy susceptibility. Two reviewers independently screened literature, extracted data and evaluated the risk bias of included studies. Then, meta-analysis was performed by RevMan 5.2 software. ResultsA total of 16 case-control studies were included, which involved 3 232 diabetic retinopathy cases and 3 555 controls. The results of meta-analysis showed that, in the total analysis, the a/b polymorphism of the eNOS gene was not associated with diabetic retinopathy risk (dominant model:OR=0.94, 95%CI 0.78 to 1.15, P=0.57; recessive model:OR=0.97, 95%CI 0.78 to 1.22, P=0.88; aa vs. bb:OR=0.89, 95%CI 0.71 to 1.12, P=0.32; ab vs. bb:OR=0. 94, 95%CI 0.77 to 1.14, P=0.52; a vs. b:OR=0.97, 95%CI 0.82 to 1.14, P=0.70); In the subgroup analysis by ethnicity, the a/b polymorphism was significantly associated with the risk of diabetic retinopathy in Africans, but not in Asians and Caucasians. ConclusionThe a/b polymorphism in the eNOS gene may be a risk factor of diabetic retinopathy in Africans.
ObjectiveTo systematically evaluate the relationship between the-2548G/A polymorphism in the leptin gene and antipsychotic-induced weight gain (AIWG). MethodsLiterature for the relationship between the-2548G/A polymorphism in the leptin gene and AIWG was retrieved in electronic databases including PubMed, EMbase, CNKI and WanFang Data from establishment dates to June, 2013. Two reviewers independently screened studies according to the inclusion and exclusion criteria, extracted data and evaluated the methodological quality of the included studies. Then meta-analysis was performed using RevMan 5.2 software. ResultsA total of 7 case-control studies were included, involving 404 AIWG cases and 508 controls (patients with no significant changes of weight after taking antipsychotic drugs). The results of meta-analysis showed that, regarding the total population, the-2548G/A polymorphism of the leptin gene was not associated with AIWG (OR=1.16, 95%CI 0.70 to 1.93, P=0.57). After stratification analysis, according to Chinese or non-Chinese origin, the results showed that significant association was found between the-2548G/A polymorphism of leptin gene and AIWG for Chinese (OR=2.15, 95%CI 1.41 to 3.26, P=0.000 4) but not for non-Chinese (OR=0.69, 95%CI 0.45 to 1.07, P=0.10). ConclusionThe current evidence suggests that the-2548G/A polymorphism in the leptin gene is associated with increased risk of AIWG for Chinese. Due to limited quantity of the included studies, the aforementioned conclusion needs to be further validate by more high-quality and large-scale studies.
ObjectiveTo investigate the relationship between immunity related GTPase M gene (IRGM) polymorphism and pneumoconiosis susceptibility.MethodsTwo hundred and forty-eight pneumoconiosis patients were selected as a case group, 275 non-pneumoconiosis workers with similar age, sex, nationality, type of work and working age were selected as a control group. The genotypes and alleles of three single nucleotide polymorphisms (SNP) of IRGM were detected by Sanger sequencing in case group and control group. SNPstats software was used to analyze the correlation between single SNP and pneumoconiosis, and SHEsis software was used to analyze the linkage imbalance and haplotype of each locus.ResultsThe distribution frequency of IRGM rs4958846 TT genotype in the case group was higher than that of the control group. The distribution frequency of TC and CC genotype in control group was higher than that of the case group. The distribution frequency of T allele in the case group was higher than that of the control group. The distribution frequency of C allele in the control group was higher than that of the case group. All of the differences were statistical significant (P<0.05). There was no statistical significance for the distribution difference between the two groups in terms of genotype and allele at IRGM rs4958842 and rs4958843 (P>0.05). After linkage disequilibrium analysis to three gene loci at rs4958842, rs4958843 and rs4958846 of IRGM, there was linkage disequilibrium between each other gene loci (D'>0.7, r2>0.3). Haplotype analysis was conducted on three genetic loci and established four kinds of haplotypes, the frequency distribution of ACT and ACC haplotypes had statistical significances between the two groups (P<0.05), and the other haplotype had no significant correlation with the susceptibility of pneumoconiosis (P>0.05).ConclusionT allele and ACT haplotype of IRGM rs4958846 may be associated with pneumoconiosis susceptibility.
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.
ObjectiveTo investigate the association between TNF-α gene -308G/A polymorphism and the risk of coronary atherosclerotic heart disease (CHD) in Chinese population.MethodsWe searched PubMed, Web of Science, CNKI, WanFang Data and VIP Databases from inception to February 2017, to collect case-control studies about the association between TNF-α gene -308G/A polymorphism and risk of CHD in Chinese population. Two reviewers independently screened literature, extracted data and assessed the risk of bias of the included studies. Meta-analysis was performed by Stata 12.0 software.ResultsA total of 10 case-control studies were included. The results of meta-analysis showed a significant association between the TNF-α gene -308G/A polymorphism and CHD risk in Chinese population (A vs. G: OR=1.13, 95%CI 1.02 to 1.26, P=0.020; AA vs. GA/GG: OR=1.47, 95%CI 1.02 to 2.12, P=0.038; AA vs. GG: OR=1.50, 95%CI 1.04 to 2.16, P=0.029).ConclusionThe current evidence shows that the TNF-α gene -308G/A polymorphism may be associated with CHD risk in Chinese population and A allele may be a risk factor. Due to the limited quantity and quality of included studies, more high quality studies are needed to verify the above conclusion.