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.
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 The unpublished data of our study were also included.Studies eligible for this meta-analysis should meet the following inclusion criterias: ① presentation of original data and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.
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 relationship between single nucleotide polymorphism (SNP) and therapy response of some conventional chemotherapy drugs in breast cancer, and to explore the value of SNP in guiding individualized treatment. Methods Pub-Medline and Chinese CHKD periodical electronic databases were searched. Representative researches in this field were sorted out and concluded. Results Varied genes related to drug metabolism have SNP phenomenon, which are closely associated with interindividual diversity in drug response. Race, section, environment, and drug-drug or gene-gene interactions may have effect on the association.Conclusion The study on SNP has important application prospect in optimizing the individual drug-delivery. However, the combinatorial analyses of multi-SNPs and multi-genes and the prospective studies with large-scale samples and random controls are still needed.
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.
Objective To observe the clinical characteristics of steroid-induced ocular hypertension (SIOH) in patients with uveitis, and explore the relationship between its clinical phenotype and gene polymorphism. Methods A retrospective case-control study. From July 2019 to December 2020, 576 patients with uveitis who were treated with glucocorticoid eye drops in Tianjin Medical University Eye Hospital were included in the study. Among them, there were 175 confirmed glucocorticoid responders (SRs) and 401 glucocorticoid non-responders (NRs). Seventy cases of SRs (age ≥18 years) using 1% prednisone acetate eye drops were selected as the experiment group and 64 cases of NRs were selected as the control group. The polymorphism of rs2523864 and rs3873352 of human leukocyte antigen complex group (HCG) 22 gene were detected by Sanger sequencing. To observe the clinical characteristics of SIOH after the use of glucocorticoid eye drops, and the correlation between rs2523864 and rs3873352 and the occurrence of SIOH. Differences among groups were compared with the Chi-square test or Fisher's exact test. The correlation between the occurrence of SIOH and the range of intraocular pressure increases after glucocorticoid use and the rs2523864 and rs3873352 loci were compared using the odds ratio (OR) and its 95% confidence interval (CI). Results SIOH occurred in 175 (30.4%, 175/576) of 576 patients. Among them, there were 96 males (54.9%, 96/175) and 79 females (45.1%, 79/175); the average age was 33.64±17.40 years. Steroid high responders (HRs) and steroid moderate responders (MRs) were 58 (33.1%, 58/175) and 117 (66.9%, 117/175) cases. The medication time for the increase in intraocular pressure in MRs that was 33 (19, 56) days, and in HRs that was 28 (14, 36) days, the difference of which was significant (Z=－1.999, P=0.046). No differences were found in daily doses of ocular hypertension induced by 1% prednisone acetate eye drops between MRs which was 4.24 (3.46, 4.66) drops/day and HRs that was 4.32 (3.84, 5.36) drops/day (Z=－1.676, P=0.094). The genotype and allele frequency distribution of the rs3873352 locus in the case group and HRs group were significantly different from those in the control group (P＜0.05). The intraocular pressure with rs3873352 GG genotype after the medication was higher than that with GC and CC genotype (Z=2.855, 2.628; P=0.013, 0.026), whereas there was no significant difference between different genotypes of rs2523864 (Z=3.580, P＞0.05). Genetic model analysis revealed the risk of SIOH in rs3873352 G allele carriers (GG+GC) was 2.048 times that of non-G allele carriers (OR=2.048, 95%CI: 1.027-4.081, P=0.041). The genotype and allele frequency of rs2523864 locus showed no significant difference between different group (P＞0.05). Conclusions After the use of glucocorticoid eye drops, HRs have an earlier increase in intraocular pressure than MRs. HCG22-rs3873352 gene polymorphism is related to the occurrence of SIOH, GG genotype increases the risk of SIOH, and G allele is a risk gene for SIOH.
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.
Objective To investigate the correlation of the polymorphism of the estrogen receptor alpha gene Pvu II site and coronary heart disease (CHD) in Chinese population. Methods Such databases as CBM, CNKI, Wangfang database, VIP, MEDLINE, The Cochrane Library, EMbase, Springer, and Ovid were searched from their establishment date to November of 2010 to collect the case-control studies on the correlation of estrogen receptor alpha gene polymorphism Pvu II sites with coronary heart disease of the Chinese. The quality of included studies was evaluated, the available data was extracted, and then the RevMan5.0 software was used for Meta analyses. Results Nine case-control studies were included, involving 1 464 cases with coronary heart disease and 1 203 cases in the control group. The results of Meta-analyses showed that, as to the correlation of the polymorphism of ER alpha gene Pvu II site T/C and CHD, there was no significant difference in the risk of CHD between people with different genotypes, i.e. the C allele versus T allele (OR=0.95, 95%CI 0.77 to 1.17, P=0.63), genotype of (TC + CC) versus TT (OR=0.97, 95%CI 0.73 to 1.28, P=0.81), genotype of TC versus TT (OR = 0.93, 95%CI 0.68 to 1.26, P=0.64), genotype of CC versus TT (OR=0.86, 95%CI 0.57 to 1.31, P=0.49). Conclusion Estrogen receptor alpha gene polymorphism Pvu II site are not associated with the coronary heart disease in Chinese population.
Objective To systematically review the association between 14 bp insertion/ deletion polymorphism of HLA-G gene and preeclampsia (PE). Methods We electronically searched in the following databases: PubMed, Web of Science, EMbase, CBM, CNKI, WanFang Data, and VIP to collect all the case-control trials on the association between 14 bp insertion/ deletion polymorphism of HLA-G gene and PE. Two reviewers independently screened literature according to the inclusion and exclusion criteria, extracted data and assessed the quality of the included studies. Then, meta-analysis was performed using RevMan 5.1 software. Results Totally 10 studies were recruited. The results of meta-analysis showed that, the preeclampsia group was higher than the control group in the frequencies of HLA-G +14 bp haplotype in the fetus and fathers and the frequencies of HLA-G +14 bp/+14 bp genotype in fathers, but its frequencies of fetal HLA-G ?14 bp haplotype was significantly lower. Their pooled OR and 95%CI were 1.42 (1.10 to 1.84), 1.54 (1.25 to 1.90), 2.00 (1.19 to 3.38), and 0.67 (0.54 to 0.82). Compared with the control group, in the preeclampsia group the frequencies of HLA-G +14 bp/+14 bp genotype in fetus were higher, while the frequencies of HLA-G ?14 bp/?14 bp genotype were lower (OR=1.75, 95%CI 1.11 to 2.77; OR= 0.57, 95%CI 0.41 to 0.81). In the preeclampsia group, the frequencies of mother (+14 bp/?14 bp)/ fetal (+14 bp/+14 bp) were higher than the control group (OR= 3.77, 95%CI 1.40 to 10.11), while those of mother (?14 bp/?14 bp)/ fetal (?14 bp/?14 bp) and those of father (?14 bp/?14 bp)/fetal (?14 bp/?14 bp) were lower (OR=0.52, 95%IC 0.31 to 0.85; OR=0.33, 95%CI 0.15 to 0.75). Conclusion Paternal and fetal 14 bp insertion/ deletion polymorphism of HLA-G gene might be associated with preeclampsia. And maternal-fetal genotype compatibility analysis might provide new clues for the pathogenesis research and clinical diagnosis of preeclampsia.
Objective To systematically evaluate correlation between exon-1 (locus 49, A/G) and promoter (locus -318, C/T) polymorphisms of Chinese population cytotoxic T lymphocytes associated antigen-4 (CTLA-4) gene and Graves’ Disease (GD). Methods Relevant studies were electronically searched in CNKI, VIP, CBM, PubMed, EMbase and The Cochrane Library from 1980.1 to 2011.12. According to the inclusion and exclusion criteria, we selected and screened all case-control studies on the correlation between CTLA-4 exon -1 (locus 49, A/G) and promoter (locus -318, C/T) polymorphisms of Chinese population and GD. Then we extracted the data and assessed the methodological quality of the included studies. Meta-analysis was performed using RevMan 5.0 and STATA 12.0 software. Results (1) Ten studies on exon-1 were included. Results of meta-analyses showed that Chinese population with genotype G/G had a higher GD risk than those with genotype A/A (OR=3.38, 95%CI 2.07 to 5.51) and A/G (OR=1.72, 95%CI 1.31 to 2.25). Also, the allele G showed significant association with increased GD risk compared to the allele A (OR=1.87, 95%CI 1.44 to 2.41). (2) Five studies on promoter-318 were included. Results of meta-analyses showed that Chinese population with genotype T/T presented no increased relative risk compared to those with genotype C/C (OR=0.75, 95%CI 0.26 to 2.12) or C/T (OR=0.92, 95%CI 0.31 to 2.73). Meanwhile, the allele T showed no increased relative risk compared to the allele C (OR=0.83, 95%CI 0.61 to 1.12). Conclusion The allele G at the locus 49 of exon -1 of Chinese population is significantly associated with increased GD risks, yet the correlation between promoter –318 C/T polymorphism and GD hasn’t been demonstrated. Due to the limited quality and quantity of the included studies, more high-quality studies are needed to test the above conclusion.