与HIV-1感染相关的甘露糖结合蛋白基因多态性分析

目的：分析中国汉族和维吾尔族人群中甘露糖结合蛋白（MBP）基因的等位基因多态性特点，初步探讨MBP基因多态性与艾滋病病毒1型（HIV－1）感染之间的相关性。方法：从856例个体（汉族606例、维吾尔族250例）的外周血中提取基因组脱氧核糖核酸（DNA），应用聚合酶链反应－限制性内切酶片段长度多态性（PCR－RFLP）分析检测MBP基因外显子1区域第52、54、57密码子部位的3个等位基因多态性，并随机抽样经DNA直接测序进行验证。结果：在健康人群中，MBP－54等位基因突变频率汉族为0．189，维吾尔族为0．121。该等位基因多态性分布在这两个民族中均符合Hardy-Weinberg平衡，两个民族在健康人群中的基因型分布和突变基因频率差异均有显著的统计学意义（x^2=5.53,P=0.022)。汉族的HIV－1感染组、高危对照组和相应的健康人群之间，MBP－54等位基因的突变频率差异无显著的统计学意义。维吾尔族高危对照组与健康人群相比，MBP－54基因的突变频率差异亦无显著的统计学意义。维吾尔族HIV－1感染组与高危对照组以及与相应的健康人群相比，MBP－54基因的突变频率的差异均有显著的统计学意义。在所检测的人群中，均未发现MBP基因的第52、57密码子部位有基因突变。结论：在汉族和维吾尔族人群中MBP－54等位基因突变频率以及基因多态性存在差异；维吾尔族人群中MBP基因第54密码子突变可能与HIV－1的易感性相关，确切机理尚待进一步研究。     

Association between interleukin-10 promoter gene polymorphisms and acute graft-versus-host disease after hematopoietic stem cell transplantation: A systematic review and meta-analysis

Abstract

Objectives

Interleukin-10 (IL-10) is an important immunomodulatory cytokine. The association between IL-10 promoter gene polymorphisms and acute graft-versus-host disease (aGVHD) risk is established; however, results of these studies remain inconclusive. We performed a meta-analysis to clarify the effects of IL-10 promoter gene polymorphisms on aGVHD risk.

Methods

The authors searched MEDLINE, EMBASE, and Cochrane Library databases. Two independent authors extracted data, and the effects were estimated from an odds ratio (OR) with 95% confidence intervals (CIs). Subgroup and sensitivity analyses identified sources of heterogeneity.

Results

Finally, a total of 11 studies encompassing 3588 recipients and 3221 donors were included to study IL-10 -1082 G > A, -819 C > T, and -592 C > A polymorphisms. IL-10 -819 CC genotype was associated with an increased aGVHD risk (grade I–IV: OR, 2.722 (95% CI, 1.360–5.450); grade II–IV: OR, 2.265 (95% CI, 1.015–5.053)). Furthermore, patients who received grafts from donors with an IL-10 -819 CC genotype experienced more frequent grade I–IV aGVHD (OR, 2.306 (95% CI, 1.168–4.551)). Recipients with IL-10 -592 CC genotypes were at increased risk for grade II–IV aGVHD (OR, 1.999 (95% CI, 1.230–3.250)). Together, this meta-analysis found that IL-10 -819 CC and -592 CC polymorphisms increased aGVHD risk.

Discussion and Conclusion

This meta-analysis found the evidence that the IL-10 -819 CC and -592 CC genotypes in both recipients and donors increased the risk of aGVHD in allogeneic hematopoietic stem cell transplantation (HSCT) patients. These results contribute towards improving patient outcome through insight and rationale for individualized treatment strategies considering genetic determinants.     

Association between MMP-2 gene polymorphism and cataract susceptibility: A protocol for systematic review and meta-analysis

Background:Matrix metalloproteinase-2 (MMP-2) polymorphisms have been considered as risk factors of cataracts, but the results still remain controversial. In this study, we have performed a systematic meta-analysis to evaluate the association between MMP-2 polymorphisms and cataract risks.Methods:Published literature was retrieved from Wanfang, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, Chongqing VIP Chinese Science and Technology Periodical Database, PubMed, Embase, and Web of Science databases. The case–control studies that explored the association between MMP-2 polymorphisms and cataract risks were included. Pooled odds ratio (OR) and 95% confidence interval (CI) were calculated using random- or fixed-effects model.Results:This study could provide high-quality and evidence-based medical evidence for the correlation between MMP-2 polymorphisms and cataract risksConclusion:The study could provide updated evidence for the evaluation of the relationship between MMP-2 polymorphism and cataract risk.Ethics and dissemination:The private information from individuals will not be published. This systematic review also will not involve endangering participant rights. Ethical approval is not available. The results may be published in a peer-reviewed journal or disseminated in relevant conferences.OSF Registration Number:DOI 10.17605/OSF.IO/KU9NE.     

Association of IL-10 -819C/T, -592A/C polymorphisms with the risk of preeclampsia: An updated meta-analysis

Objective:The purpose of our study was to investigate whether IL-10 -819C/T, -592A/C polymorphisms were associated with preeclampsia (PE) susceptibility.Methods:A comprehensive and systematic literature search was performed through online databases, including Web of Science, PubMed, EMBASE, and Chinese databases. Then eligible literatures were included according to inclusion criteria and exclusion criteria. Statistical data analysis was performed using Stata 10.0 software. Odds ratios (OR) and 95% confidence interval were applied to evaluated the association between IL-10 -819C/T, -592A/C polymorphisms and PE susceptibility.Results:According to inclusion and exclusion criteria, 9 case-control studies, including 1423 cases and 2031 controls, were included in this meta-analysis. Our meta-analysis revealed that no association was found between IL-10 -819C/T, -592A/C polymorphisms and the risk of PE in our study.Conclusion:Our meta-analysis suggested that IL-10 -819C/T and -592A/C polymorphisms had no association with PE susceptibility, but had a significant association with PE susceptibility in Asian and Caucasian.     

白介素-10基因多态性与肠易激综合征易感性关系的Meta分析

目的:评价白细胞介素-10(interleukin-10,IL-10)基因多态性与肠易激综合征(irritable bowel syndrome,IBS)遗传易感性的关系.方法:检索PubMed、EMBASE数据库、Cochrane图书馆(1966/2011-12)、中国学术期刊全文数据库(CNKI)、中国生物医学文献数据库(CBM)、万方数据库(1979/2011-12).应用RevMan5.0对各研究结果进行异质性检验和效应值合并.结果:8篇文献被纳入分析,其中涉及IL-10-592多态性的文献4篇、IL-10-819多态性的文献4篇、IL-10-1082多态性的文献7篇.-592位点A等位基因的OR值为1.26,95%CI:1.03-1.54,P=0.02;-592位点AA型基因的OR值为1.67,95%CI:0.71-3.93,P=0.24;-819位点T等位基因的OR值为1.24,95%CI:1.02-1.52,P=0.03;-819位点TT型基因的OR值为1.31,95%CI:0.59-2.91,P=0.50;-1082位点G等位基因的OR值为1.00,95%CI:0.86-1.17,P=0.98;-1082位点GG型基因的OR值为0.68,95%CI:0.51-0.92,P=0.01.分层分析显示:西方人种-1082位点GG型基因的OR值为0.71,95%CI:0.52-0.97,P=0.03;东方人种-1082位点GG型基因的OR值为0.42,95%CI:0.13-1.31,P=0.13.结论:西方人种-1082位点GG型基因与IBS遗传易感性相关,-592位点A等位基因和-819位点T等位基因可能会增加东方人种患IBS的危险性.     

ATP2B1 gene polymorphisms rs2681472 and rs17249754 are associated with susceptibility to hypertension and blood pressure levels: A systematic review and meta-analysis

Objective:The present study aimed to conduct a systematic review and meta-analysis to evaluate the relationships between ATP2B1 gene polymorphisms with blood pressure (BP) level and susceptibility to hypertension.Methods:PubMed, Web of Science, Embase and China National Knowledge Infrastructure (CNKI) Databases were systematically searched by 2 independent researchers to screen studies on ATP2B1 gene polymorphisms and BP related phenotypes. The records retrieval period was limited from the formation of the database to March 4, 2021. Pooled odds rations (ORs) or β and their 95% confidence intervals (95%CI) were calculated to assess the association between ATP2B1 gene polymorphisms and the risk of hypertension or BP levels. Publication bias and sensitivity analysis were conducted to find potential bias. All the statistical analysis were conducted with Stata version 11.0 software.Results:A total of 15 articles were ultimately included in the present study, including 15 polymorphisms of ATP2B1 gene. Nine articles (N = 65,362) reported the polymorphism rs17249754, and 7 articles(N = 91,997) reported rs2681472 (both loci were reported in 1 article). Meta-analysis showed that rs17249754 (G/A) and rs2681472 (A/G) were associated with the susceptibility to hypertension (rs17249754: OR = 1.19, 95%CI: 1.10–1.28; rs2681472: OR = 1.15, 95%CI: 1.12–1.17), and were positively associated with systolic BP (SBP) and diastolic blood pressure (DBP) (rs17249754: SBP, β=1.01, 95%CI: 0.86–1.16, DBP, β=0.48, 95%CI: 0.30–0.66; rs2681472: SBP, β=0.92, 95%CI: 0.77–1.07, DBP, β=0.50, 95%CI: 0.42–0.58) in the additive genetic model. Subgroup analysis stratified by race, population, sample size, and BP measurement method revealed that the association between A allele in rs2681472 polymorphism and risk of hypertension was slightly stronger in European (EUR) populations (OR = 1.16, 95%CI: 1.13–1.20) than in East Asians (OR = 1.14, 95%CI: 1.10–1.17). While in East Asians, relation between rs17249754 with risk of hypertension (OR = 1.19, 95%CI: 1.10–1.28) is stronger than rs2681472 (OR = 1.14, 95%CI: 1.10–1.17).Conclusions:Our study demonstrated that ATP2B1 gene polymorphism rs2681472 and rs17249754 were associated with BP levels and the susceptibility to hypertension.     

Relationship between thrombomodulin gene polymorphism and susceptibility to venous thromboembolism: A protocol for systematic review and meta-analysis

Background:Previous studies displayed that thrombomodulin gene polymorphisms are closely associated with venous thromboembolism (VTE), while the results are inconsistent. Therefore, we conducted a meta-analysis to accurately determine the association between thrombomodulin gene polymorphism and the risk of VTE.Methods:Wanfang, Chinese Biomedical Literature Database, Chinese National Knowledge Infrastructure, the Chongqing VIP Chinese Science and Technology Periodical Database, PubMed, EmBase, and Web of Science databases were searched, and the time to build the database was set until January 2021. The association between thrombomodulin gene polymorphism and the risk of VTE was evaluated. Meta-analysis was performed with STATA 16.0 software, and the odds ratio and its 95% confidence interval were applied to estimate the relationship between thrombomodulin gene polym‘orphism and the risk of VTE.Results:The results of this meta-analysis will be submitted to a peer-reviewed journal for publication.Conclusion:This meta-analysis will summarize the relationship between thrombomodulin genepolymorphism and VTE risk.Ethics and dissemination:Ethical approval was not required for this study. The systematic review will be published in a peer-reviewed journal, presented at conferences, and shared on social media platforms. This review would be disseminated in a peer-reviewed journal or conference presentations.OSF REGISTRATION NUMBER:DOI 10.17605/OSF.IO/UEHJP.     

Association between RGS4 gene polymorphisms and schizophrenia: A protocol for systematic review and meta-analysis

Background:Schizophrenia is a complex brain disorder, the pathogenesis of which remains unclear. Regulator of G-protein signaling 4 is regarded as a candidate gene for schizophrenia risk. The association between the regulator of G-protein signaling 4 gene and the risk of schizophrenia is complicated and controversial, thus, an updated meta-analysis is needed.Methods:A search strategy using Medical Subject Headings was developed in English (PubMed, SZGene) and Chinese (CNKI, Wanfang, and Weipu) databases. Inclusion and exclusion criteria were used to screen for eligible studies. Parameters, such as P value of Hardy–Weinberg equilibrium, odds ratios, 95% confidence intervals, P values of association, heterogeneity (P_h), and publication bias, were analyzed by the Stata software using a random effects model. Subgroup analyses were performed to detect heterogeneity.Results:There were 15 articles regarding rs10917670 (8046 cases and 8837 controls), 16 regarding rs951436 (8990 cases and 10,568 controls), 15 regarding rs951439 (7995 cases and 8646 controls), 15 regarding rs2661319 (8320 cases and 9440 controls), and 4 regarding rs10759 (2752 cases and 2866 controls). The frequencies of rs10917670 and rs951439 were not significantly different between the case and control groups (P > .05). As shown by the East Asian and hospital-based subgroup analyses, the genotype TT of rs951436 might be related to the risk of schizophrenia. The genotypes CC + CT of rs2661319 and CC + CA of rs10759 were statistically different between the 2 groups, and the East Asian population contributed to these differences.Conclusion:The genotypes CC + CT of rs2661319 and CC + CA of rs10759 might be associated with the risk of schizophrenia.     

Association between CYP2A13 polymorphisms and lung cancer: A protocol for systematic review and meta-analysis

Background:Recently, lung cancer has become the most common cause of cancer-related death, several studies indicate that the cytochrome P450 2A13 (CYP2A13) polymorphisms may be correlated with lung cancer susceptibility, but the results have been inconsistent and inconclusive. Therefore, the aim of this meta-analysis is to provide a precise conclusion on the potential association between CYP2A13 polymorphisms and the risk of lung cancer based on case-control studies.Methods:The PubMed, Embase, Cochrane Library, Web of Science, and China National Knowledge Infrastructure (CNKI) databases will be searched for case-control studies published up to September 2020. Odds ratio (OR) and 95% confidence interval (95% CI) were used to determine the effects of the CYP2A13 polymorphism on lung cancer risk, respectively.Results:The results of this meta-analysis will be submitted to a peer-reviewed journal for publication.Conclusion:This meta-analysis will summarize the association between CYP2A13 polymorphisms and the risk of lung cancer.INPLASY registration number:INPLASY202090102     

谷胱甘肽S-转移酶M1、T1基因多态性与骨肉瘤易感性的Meta分析

目的 定量分析谷胱甘肽S-转移酶M1、T1(GSTM1、GSTT1)基因多态性与骨肉瘤易感性的关系.方法 检索PubMed、Embase、CNKI、维普、万方数据平台从建库到2013年2月的文献,对符合本实验纳入标准和排除标准的随机对照临床研究,运用RevMan5.0.0软件进行Meta分析.结果 共纳入3篇文献,累计样本量为914例,其中病例组202例,对照组712例.Meta分析见GSTTI位点的多态性与骨肉瘤易感性有显著关联,而GSTM1和骨肉瘤无显著关联(基因型GSTM1空白对GSTM1非空白:OR=1.21,95％ CI:0.86～1.70,P=0.27;基因型GSTT1空白对GSTT1非空白:OR=1.58,95％ CI:1.11 ～2.25,P=0.01).结论 GSTT1基因多态性与骨肉瘤相关,GSTT1空白基因型可能增加骨肉瘤的发病.     

Association of polymorphisms in ADAMTS-5 gene with the susceptibility to knee osteoarthritis: A protocol for systematic review and meta-analysis

Background:To systematically review literature evidence to discover the association of ADAMTS5 (A Disintegrin And Metalloproteinase with Thrombospondin-like motifs 5) gene polymorphisms and the risk of developing KOA (knee osteoarthritis).Methods:We systematically searched the related randomized controlled trials in 4 databases from inception to August 2021, including the Embase, Web of Science, PubMed, and CNKI (Chinese National Knowledge Infrastructure) databases. No language and publication status restrictions. Two reviewers will independently screen all included studies, and the meta-analysis will be conducted using the Review Manager (RevMan 5.3, Cochrane Collaboration, Nordic Cochrane Center, Copenhagen, Denmark).Results:The gathered evidence suggests that there may be a close relationship between the SNP in the ADAMTS5 gene and KOA development. This study will provide a high-quality and convincing evaluation of the treatment of KOA from the consideration of ADAMTS5 gene and will be published in a peer-reviewed journal.Conclusion:ADAMTS5 polymorphism is likely an important risk factor for the development of KOA. Our study will provide a more accurate treatment method for the treatment of KOA.Trial registration number:CRD42021276317     

Association between Toll-like receptor gene polymorphisms and risk of Helicobacter pylori infection: A protocol for systematic review and meta-analysis

Background:There were many case-control studies performed the association between TLRs gene polymorphisms and the correlation of Helicobactor pylori infection, these results were inconformity. Therefore, a comprehensive meta-analysis was performed to evaluate the TLRs gene polymorphism and susceptibility to H. pylori infection.Methods:Eligible studies were searched from PubMed, EMBASE, Web of science, Cochrane library, CNKI, CBM, Wan Fang Database and VIP Database, all the databases were searched from inception to December 2020. OR with the corresponding 95% CI were presented as associations between certain TLR gene polymorphism and the risk of H. pylori infection, all the included data will be analyzed with the software of Review Manager 5.2 and STATA 14.2.Results:This study will provide a high-quality evidence to find the TLR gene polymorphisms with H. pylori infection susceptibility.Conclusion:This study will explore which TLR genotype increase the risk of H. pylori infection.     

Interleukin-10 gene polymorphisms and hepatocellular carcinoma susceptibility: a meta-analysis

AIM: To assess the association between Interleu-kin-10 (IL-10) gene IL-10-1082 (G/A), IL-10-592(C/A), IL-10-819 (T/C) polymorphisms and hepatocellular carcinoma (HCC) susceptibility.METHODS: Two investigators independently searched the Medline, Embase, China National Knowledge Infrastructure, and Chinese Biomedicine Database. Summary odds ratios (ORs) and 95% conf idence intervals (95% CIs) for IL-10 polymorphisms and HCC were cal-culated in a fixed-effects model (the Mantel-Haenszel method) and a random-ef...     

Association of interleukin-10 polymorphisms with risk of irritable bowel syndrome:A meta-analysis

AIM:To clarify the current understanding of the association between interleukin-10(IL-10)polymorphisms and the risk of irritable bowel syndrome(IBS).METHODS:We searched for studies in any language recorded in PubMed,Embase and Cochrane library before August 2013.The associations under allele contrast model,codominant model,dominant model,and recessive model were analyzed.The strengths of the association between IL-10 polymorphisms and IBS risk were estimated using odds ratios(OR)with 95%confidence interval(CI).Fixed effects model was used to pool the result if the test of heterogeneity was not significant,otherwise the random-effect model was selected.RESULTS:Eight case-control studies analyzing three single-nucleotide polymorphisms rs1800870(-1082 A/G),rs1800871(-819C/T),and rs1800872(-592A/C)of the IL-10 gene,which involved 928 cases and 1363 controls,were eligible for our analysis.The results showed that rs1800870 polymorphisms were associated with a decreased risk of IBS(GG+GA vs AA:OR=0.80,95%CI:0.66-0.96),(AA+GA vs GG:OR=0.68,95%CI:0.52-0.90).Subgroup analysis revealed such association only existed in Caucasian ethnicity(AA+GA vs GG,OR=0.70,95%CI:0.55-0.89).The rs1800872 polymorphisms were associated with an increased risk of IBS in Asian ethnicity(CC vs GG:OR=1.29,95%CI:1.01-1.16).There were no associations between rs1800871 polymorphisms and the IBS risk.CONCLUSION:The results suggest that IL-10 rs1800870confers susceptibility to the risk of IBS in Caucasian ethnicity,and the rs1800872 may associate with IBS risk in Asians.However,no significant associations are found between rs1800871 and IBS risk.     

A meta-analysis of XRCC1 single nucleotide polymorphism and susceptibility to gynecological malignancies

Background:Gynecological malignant tumor is a serious threat to women''s health, cervical cancer, endometrial cancer and ovarian cancer are the most common. The eponymous protein encoded by the XRCC1 (X-ray repair cross complementation 1) gene is an important functional protein in the process of single-stranded DNA damage. Non-synonymous mutations of XRCC1 gene cause amino acid sequence changes that affect protein function and DNA repair ability, and may affect the interaction with other DNA repair proteins, leading to increased risk of tumor development. Many studies have assessed the association between XRCC1 gene polymorphism and the risk of cancer in the female reproductive system, but the results have been inconclusive. In this study, the relationship between XRCC1 Arg399Gln, Arg194Trp, Arg280His single nucleotide polymorphisms and susceptibility to gynecological malignancies was further explored by meta-analysis.Methods:English database: Pubmed, Medline, Excerpta Medica Database, Cochrance, etc; Chinese database: China national knowledge infrastructure, Wanfang Database, etc. STATA14 was used for statistical analysis, such as odd ratio (OR) value, subgroup analysis, heterogeneity test, sensitivity analysis, and publication bias.Results:In gynecologic cancers, the allele frequency difference of Arg399Gln case control group was statistically significant (GvsA: P = .007). There was no significant difference in allele frequency in the Arg194Trp and Arg280His case control groups (P = .065, 0.198). In different gene models, Arg399Gln was significantly correlated with gynecologic cancers susceptibility (GGvs AA: OR 0.91; 95% confidence interval [CI], 0.85 0.98); Arg194Trp was significantly correlated with gynecologic cancers susceptibility (CCvs TT: OR 0.94; 95% CI 0.88,1.00; CCvs CT: OR 0.97; 95% CI 0.90, 1.05); Arg280His was significantly correlated with gynecologic cancers susceptibility (GGvs AA: OR 0.98; 95% CI 0.94, 1.02; GGvs GA: OR 1.00;95% CI 0.97, 1.04). In the subgroup analysis, Arg399Gln and Arg194Trp were significantly correlated with gynecologic cancers susceptibility in the Asian race (P = .000, 0.049). In the analysis of different cancer subgroups, Arg399Gln and cervical cancer susceptibility were statistically significant (P = .039). Arg194Trp and endometrial cancer susceptibility were statistically significant (P = .033, 0.001).Conclusions:XRCC1 Arg399Gln, Arg194Trp, Arg280His single nucleotide polymorphisms were associated with gynecologic cancer susceptibility. Arg399Gln genotype was statistically significant in relation to cervical cancer susceptibility. Arg194Trp genotype was statistically significant in relation to endometrial cancer susceptibility.     

The association between rs1800872 polymorphism in interleukin-10 and risk of cervical cancer: A meta-analysis

Background:In recent years, several reports have tried to prove this connection between rs1800872 polymorphism in interleukin-10 and cervical cancer among different populations, but the results are debatable. Thus, we collected all the published literature and conducted an integrated meta-analysis, which provided better evidence-based medicine for the relationship between rs1800872 polymorphism in interleukin-10 and risk of cervical cancer.Methods:We systematically performed our search on PubMed, EMBASE, Web of Science, WanFang database, and CNKI for all papers related to this research, published up to August 1, 2020. Summary odds ratios (OR) with 95% confidence interval (95% CI) were calculated in allelic, homozygous, heterozygous, dominant, and recessive model to appraise the association.Results:The meta-analysis included 8 studies containing 1393 cervical cancer cases and 1307 controls. The aggregate data under heterozygous model and dominant inheritance model (OR = 0.66, 95% CI: 0.55--0.80) indicated a significant association between rs1800872 and the low risk of cervical cancer in the entire population. And the aggregated data under the dominant inheritance model shows that rs1800872 is significantly associated with the reduction in the risk of cervical tumors in the entire population.Conclusion:Our conclusion is that the AC/AA + AC variant of Rs1800872 indicates a protective effect in the development of cervical cancer.