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 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.
Objective To summarize the association between CYP1A1 rs4646903 polymorphisms and COPD risk. Methods Systematic literature search was conducted (up to January 2016) in five online databases, ie. PubMed, Embase, China National Knowledge Infrastructure (CNKI), VIP database, and WanFang databases. The strength of association was calculated by odds ratio (OR) and corresponding 95% confidence interval (CI). Results Six case-control studies with 1 050 cases and 1 202 controls were included. This study suggested a significant association between the CYP1A1 rs4646903 polymorphism and COPD risk (CC vs. TT: OR=1.63, 95%CI 1.17-2.27, P=0.004; CC vs. TC+TT: OR=1.62, 95%CI 1.19-2.20, P=0.002). However, there was no significant difference between allele model (C vs. T, OR=1.20, 95%CI 0.95-1.51, P=0.118) and dominant model (CC+TC vs. TT, OR=1.19, 95%CI 0.82-1.72, P=0.366). Conclusions The CYP1A1 rs4646903 polymorphisms might alter the susceptibility of COPD. More well-designed studies with larger sample size are warranted.
ObjectiveTo systematically evaluate the association between 936C/T polymorphism in vascular endothelial growth factor (VEGF) gene and the risk of preeclampsia (PE). MethodsSuch databases as PubMed, EMbase, The Cochrane Library (Issue 11, 2014), CBM, CNKI, VIP, and WanFang Data were searched up to November 2014, to collect case-control studies of the association between 936C/T polymorphism in VEGF gene and the risk of PE. Two reveiwers independently screened studies according to the inclusion and exclusion criteria, extracted data, and assessed the risk of bias of included studies. And then, meta-analysis was conducted using RevMan 5.3 software. ResultsA total of nine case-control studies involving 904 PE patients and 1 113 controls were included. The results of meta-analysis showed that, significant association was found between VEGF gene 936C/T polymorphism and the risk of PE in the total analysis (T vs. C:OR=1.61, 95%CI 1.17 to 2.22, P=0.003; TT vs. CC:OR=2.65, 95%CI 1.37 to 5.11, P=0.004; CT vs. CC:OR=1.55, 95%CI 1.09 to 2.22, P=0.02; TT+CT vs. CC:OR=1.68, 95%CI 1.15 to 2.45, P=0.007; TT vs. CT+CC:OR=2.19, 95%CI 1.31 to 3.68, P=0.003). In the subgroup analysis, significant association of the polymorphism was found in Asians but not in Caucasians. ConclusionVEGF gene 936C/T polymorphism may be associated with PE risk in Asians. Due to limited quantity and quality of the included studies, the conclusion should be assessed in further studies.
Objectives To investigate the relationship between SG13S114 and SG13S32 polymorphisms in ALOX5AP gene and risk of ischemic stroke in Chinese population. Methods We searched Web of Science, EMbase, PubMed, CNKI, CBM and WanFang Data databases to collect case-control studies on SG13S114 and SG13S32 polymorphisms of ALOX5AP gene and risk of ischemic stroke in Chinese from inception to February 2017. Two reviewers independently screened literature, extracted data, and assessed the risk of bias of included studies. Meta-analysis was then performed by Stata 12.0 software. Results A total of 20 studies were included. The results of meta-analysis showed that SG13S114 polymorphism in ALOX5AP gene was associated with risk of ischemic stroke in Chinese (A vs. T: OR=1.12, 95%CI 1.00 to 1.27, P=0.05; TA+AA vs. TT: OR=1.14, 95%CI 1.01 to 1.28, P=0.04; AA vs. TT: OR=1.33, 95%CI 1.07 to 1.65, P=0.012). However, no significant association between SG13S32 polymorphism and ischemic stroke in Chinese was found. Conclusions SG13S114 polymorphisms in ALOX5AP gene is associated with risk of ischemic stroke in Chinese, in which the A allele of ALOX5AP may be a risk factor.
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.
ObjectiveTo systematically review the tumor necrosis factor-α (TNF-α) -308G/A polymorphism and the risk of inflammatory bowel disease (IBD). MethodsAll eligible case-control studies published up to Jan 25th 2015 were identified by searching PubMed, EMbase, CNKI, WanFang Data, CBM and VIP databases. Two reviewers independently screened the studies according to the inclusion and exclusion criteria, extracted data and assessed methodological quality of included studies. Then, meta-analysis was performed using RevMan 5.2 and Stata 12.0 softwares. ResultsA total of 20 studies involving 2 860 IBD cases and 5 033 controls were included. The results of meta-analysis showed:Compared with the wild genotype GG, genotype GA, AA and genotype GA+AA were associated with susceptibility of ulcerative colitis (UC) (GA vs. GG:OR=1.45, 95%CI 1.02 to 2.07, P=0.04; AA vs. GG:OR=2.01, 95%CI 1.32 to 3.05, P=0.001; GA+AA vs. GG:OR=1.51, 95%CI 1.07 to 2.13, P=0.02); Compared with genotype GA+AA, genotype AA increased the risk of UC (AA vs. GA+GG:OR=1.92, 95%CI 1.26 to 2.91, P=0.002); allele A did not increase the risk of UC; Compared with genotype GG, genotype AA increased the risk of Crohn disease (CD) (AA vs. GG:OR=1.49, 95%CI 1.07 to 2.08, P=0.02); Compared with genotype GA+GG, while genotype AA increased the risk of CD (AA vs. GA+GG:OR=1.50, 95%CI 1.08 to 2.09, P=0.02); genotype GA, GA+AA and allele A did not increase the risk of CD. In stratification analyses by ethnicity, we found that the TNF-α-308G/A was significat associated with IBD in Europeans. ConclusionCurrent evidence indicates that TNF-α-308G/A polymorphism is associated with the susceptibility of IBD, genotype GA, AA and GA+AA increase the risk of suffering from UC while genotype AA increase the risk of suffering from CD. Due to the limited quantity of the included studies, more researches are needed to verify the above conclusion.
ObjectiveTo investigate the correlation of X-ray repair cross-complementing gene 1 (XRCC1-Arg399Gln, Arg280His, and Arg194Trp) polymorphisms and susceptibility to gastric cancer. MethodsOne hundred and twenty patients with gastric cancer were included in study group, 120 healthy volunteers were included in control group. The DNA was extracted from peripheral blood. Arg399Gln, Arg280His, and Arg194Trp gene polymorphisms were detected and analyzed using polymerase chain reaction-restriction fragment length polymorphism technique, and the susceptibility between different genotypes and gastric cancer was compared in two groups. ResultsThe age, gender, smoking, drinking, diet, and other common characteristics of exposure factors had no significant differences in two groups (P > 0.05). The mutation locus genotype frequencies of Arg399Gln and Arg280His had no significant differences between two groups (P > 0.05). However, the mutation locus genotype frequencies of Arg/Trp, Trp/Trp, and Arg/Trp+Trp/Trp were higher and the mutation locus genotype frequency of Arg/Arg was lower in the study group as compared with the control group (P < 0.05). ConclusionThe preliminary results from this study shows that XRCC1 Arg399Gln and Arg280His polymorphisms are not correlated with susceptibility to gastric cancer; However, Arg194Trp polymorphism is correlated with susceptibility to gastric cancer.
ObjectiveTo investigate the relationship between the G196A and C270T polymorphism and epilepsy.MethodsDatabase including PubMed, EMbase, the Cochrane Library, CNKI and Wan fang data were retrieved upto September, 2017 to collect the case-control study concerning BDNF two polymorphisms G196A/C270T and epilepsy. Two reviewers independently screened the literature, extracted the data, and assessed the quality of methodology. Then Meta-analysis was performed using RevMan 5.2 software.Results①A total of 9 studies were included in the Meta-analysis between BDNF G196A and epilepsy. The studies included 1841 epilepsy patients and 6467 healthy control subjects. The G allele increase the risk of epilepsy[OR=1.13, 95%CI (1.06–1.21), P=0.0001]. When stratified by Asian and western subgroup, a similar trend of associated was detected with Asian epilepsy patients [OR=1.13, 95%CI (1.05–1.20), P=0.0004]. When stratified by epilepsy type, the G allele increase the risk of temporal lobe epilepsy [OR=1.18, 95%CI (1.04–1.34), P=0.008]. ② The Meta-analysis between BDNF C270T and epilepsy included 4 studies, 594 epilepsy patients and 738 healthy control subjects. The result suggested the frequency of the CT genotype and of the C270T T allele was not associated with epilepsy.ConclusionsBDNF G196A polymorphism is a susceptibility locus for temporal lobe epilepsy and Asian epilepsy patients.