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.
ObjectiveTo systematically review the association between glutathione S-transferase pi (GSTP1) Ile105Val (A/G) and the risk of cutaneous melanoma. MethodWe searched PubMed, EMbase, CNKI and WanFang Data to identify case-control studies which investigated the association between GSPT1 Ile105Val (A/G) polymorphism and the risk of cutaneous melanoma from their inception to June 31th 2016. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then meta-analysis was performed by using RevMan 5.3 software. ResultsA total of 4 case-control studies involving 978 cutaneous melanoma cases and 796 controls were included. The results showed that: the GSPT1 Ile105Val (A/G) polymorphism was significantly associated with the risk of cutaneous melanoma in the dominant model (GG+GA vs. AA: OR=1.22, 95%CI 1.01 to 1.48, P=0.04), but no significant association was found in the recessive model, heterozygote model, and homozygote model (GG vs. CA+AA: OR=1.18, 95%CI 0.86 to 1.60, P=0.30; GA vs. AA: OR=1.20, 95%CI 0.98 to 1.47, P=0.08; GG vs. AA: OR=1.28, 95%CI 0.92 to 1.77, P=0.14). ConclusionCurrent evidence shows, The GSTP1 Ile105Val (A/G) polymorphism is associated with the risk of cutaneous melanoma. Due to limited quantity and quality of the included studies, more high-quality large-scale studies are needed to verify the above conclusion.
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 evaluate the relationship between OPRM1 gene rs1799971 polymorphism and opioid analgesics requirement after surgery in Asians. MethodsWe electronically searched databases including CNKI, CBM, VIP, WanFang Data, EMbase and MEDLINE to collect studies about the correlation between OPRM1 gene rs1799971 polymorphism and opioid analgesics requirement after surgery in Asia. The retrieval time was from the establishment to March 1st, 2015. Two reviewers independently screened literature, extracted data and assessed the risk bias of including studies, and then meta-analysis was performed by using RevMan 5.2 software. ResultsA total of 10 case-control studies involving 1 612 patients were included. The results of meta-analysis showed that the requirement of opioid analgesics after surgery for GG genotype carriers was more than AG carriers (SMD=-0.44, 95%CI -0.61 to -0.28, P<0.000 01), AA genotype carriers (SMD=-0.55, 95%CI -0.71 to -0.38, P<0.000 01), and AA+AG genotype carriers (SMD=-0.50, 95%CI -0.66 to -0.35, P<0.000 01). ConclusionThe current evidence showed that the requirement of opioid analgesics after surgery for GG genotype of rs1799971 polymorphism in OPRM1 gene is higher in Asians. Due to the limited quality and quantity of included studies, the above results are needed to be further validated by more studies.
ObjectiveTo evaluate the association between tumor necrosis factor alpha (TNF-α) gene -308G/A polymorphism and the risk of endometriosis (EM). MethodsDatabases including PubMed, EMbase, CBM, CNKI, VIP, and WanFang Data were searched to collect case-control studies about the association between TNF-α gene -308G/A polymorphism and the risk of EM from inception to October 2014. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. Then Meta-analysis was performed by using Stata 12.0 software. ResultsA total of seven case-control studies were included, which involved 687 patients and 877 controls. The results of meta-analysis showed that, AA genotype carriers presented 2.06-fold (OR=2.06, 95%CI 1.10 to 3.83, P=0.02) and 1.94-fold (OR=1.94, 95%CI 1.18 to 3.18, P<0.01) higher risk of EM than GG genotype carriers and AG+GG genotype carriers, respectively; but sensitivity analysis showed that the robustness of these results was unstable. No statistical significance was found in the allele model, co-dominant model, and dominant model (A vs. G: OR=1.37, 95%CI 0.87 to 2.17, P=0.18; AG vs. GG: OR=1.09, 95%CI 0.77 to 1.53, P=0.63; AA+AG vs. GG: OR=1.29, 95%CI 0.95 to 1.77, P=0.11). While excluding studies that controls were not in HWE, no significant association was observed in these five genetic models; and no significant association was found in the results of subgroup analysis by ethnicity. ConclusionThe AA genotype of TNF-α gene -308G/A polymorphism might contribute to the risk of EM, but the association between other genotypes and EM susceptibility is unclear. In addition, due to the limited quantity and quality of included studies, more high quality studies are needed to verify the above conclusion.
ObjectiveTo systematically review the association between angiotension-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and osteoarthritis (OA) by using meta-analysis and trial sequential analysis (TSA). MethodsThe PubMed, EMbase, CNKI, CBM, VIP, and WanFang Data were searched up to October 12th, 2016 for case-control or cohort studies on the correlation between ACE I/D polymorphism and OA risk. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis and TSA analysis were performed using Stata 13.1 software and TSA v0.9 soft ware. ResultsA total of six case-control studies involving 1 165 OA patients and 1 029 controls were included. The results of meta-analysis showed that the ACE I/D was associated with OA risk (DD+DI vs. II: OR=1.72, 95%CI 1.02 to 2.90, P=0.04; DI vs. II: OR=1.65, 95%CI 1.06 to 2.56, P=0.03). Subgroup analysis of ethnicity showed that, in Caucasians, the ACE I/D was associated with OA risk (DD vs. DI+II: OR=2.10, 95%CI 1.54 to 2.85, P<0.01; DD+DI vs. II: OR=3.11, 95%CI 2.20 to 4.39, P<0.01; DD vs. II: OR=4.01, 95%CI 2.68 to 6.00, P<0.01; DI vs. II: OR=2.65, 95%CI 1.06 to 2.56, P<0.01; D vs. I: OR=2.11, 95%CI 1.72 to 2.58, P=0.73). And TSA showed that all of the cumulative Z-curve strode the conventional and TSA threshold value which suggested the result of the association between ACE I/D polymorphism and OA in Caucasians was very reliable. However, the association did not exist in Asians (DD vs. DI+II: OR=0.80, 95%CI 0.60 to 1.07, P=0.13; DD+DI vs. II: OR=1.08, 95%CI 0.87 to 1.35, P=0.49; DD vs. II: OR=0.86, 95%CI 0.62 to 1.20, P=0.38; DI vs. II: OR=1.18, 95%CI 0.93 to 1.50, P=0.19; D vs. I: OR=0.93, 95%CI 0.83 to 1.14, P=0.73). And the results of TSA displayed that all of the cumulative Z-curve did not strode both TSA threshold value and required information size line excepting for DD vs. DI+II genetic model which suggested that the sample-size in Asians was insufficient. ConclusionsThe ACE D allele maybe a risk factor for OA in Caucasians. However, the association between ACE I/D polymorphism and OA risk in Asians still need more studies to prove.
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.
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.
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.