CX3CR1基因多态性与冠心病关联的Meta分析

目的 探讨CX3CR1-V249I、T280M与冠心病（CAD）的关联性。 方法 检索中英文数据库，以得到CX3CR1-V249I、T280M与CAD易感性关系的病例对照研究，采用Meta分析方法合并V249I、T280M与CAD关联的OR值，同时进行文献发表偏倚检验。结果 共纳入文献6篇。对于V249I，共纳入病例1551人，对照1804人，I型相对于V型合并OR=0.85（95%CI=0.67~1.08，P>0.05）；对于T280M，共纳入病例1555人，对照1801人，M型相对于T型合并OR=0.82（95%CI=0.70~0.96，P<0.05）。结论 T280M为CAD的保护性因素，V249I与CAD的发生无关联。     

湖南汉族人群CX3CR1基因多态性分布

目的探讨趋化因子受体CX3CR1基因多态性在湖南汉族健康人群中的分布及其与国内外不同种族之间的差异。方法采用PCR-RFLP技术对150名湖南汉族健康体检者进行CX3CR1基因多态性检测,计算其基因型和等位基因频率,并与国内外多个民族CX3CR1基因多态性分布进行比较。结果湖南汉族人群V249I基因位点有VV和VI两种基因型,以VV基因型为主,没有II基因型,其中VV基因型频率为88%,VI基因型频率为12%,V和I等位基因频率分别为94%和6%;T280M基因位点有TT和TM两种基因型,以TT基因型为主,没有II基因型,其中TT基因型频率分别为95.3%,TM基因型频率为4.7%,T和M等位基因频率分别为97.7%和2.3%。结论湖南汉族CX3CR1基因V249I以VV基因型为主,缺少II和MM基因型,湖南汉族、新疆汉族、景族和傣族都缺少II基因型,T280M以TT基因型为主,缺少MM基因型,湖南汉族CX3CR1基因多态性分布与维吾尔族人群和欧美人群存在较大差异,与国内景族、傣族、新疆汉族和日本人群相似。     

湖南汉族人群CX3CRl基因多态性分布

目的 探讨趋化因子受体CX3CR1基因多态性在湖南汉族健康人群中的分布及其与国内外不同种族之间的差异.方法 采用PCR-RFLP技术对150名湖南汉族健康体检者进行CX3CR1基因多态性检测,计算其基因型和等位基因频率,并与国内外多个民族CX3CR1基因多态性分布进行比较.结果 湖南汉族人群V249I基因位点有VV和Ⅵ两种基因型,以VV基因型为主,没有II基因型,其中VV基因型频率为88%,VI基因型频率为12%,V和I等位基因频率分别为94%和6%;T280M基因位点有TT和TM两种基因型,以TT基因型为主,没有Ⅱ基因型,其中TT基因型频率分别为95.3%,TM基因型频率为4.7%,T和M等位基因频率分别为97.7%和2.3%.结论 湖南汉族CX3CRl基因V249I以VV基因型为主,缺少Ⅱ和MM基因型,湖南汉族、新疆汉族、景族和傣族都缺少Ⅱ基因型,T280M以TT基因型为主,缺少MM基因型,湖南汉族CX3CR1基因多态性分布与维吾尔族人群和欧美人群存在较大差异,与国内景族、傣族、新疆汉族和日本人群相似.     

云南傣族景颇族人群中与艾滋病相关的CX3CR1基因多态性分布

目的调查HIV-1感染相关的等位基因CX3CR1的单核苷酸多态在我国云南省德宏州傣族、景颇族人群中的分布.方法以101例傣族人群和113例景颇族人群为研究对象,应用聚合酶链式反应-限制性片段长度多态(PCR-RFLP)分析方法,研究CX3CR1基因序列中249和280位点碱基是否发生突变,并对其群体分布、性别分布进行统计学分析.结果中国傣族人群中I249和M280突变基因频率分别为0.0495和0.0297;中国景颇族人群中I249和M280突变基因频率分别为0.0530和0.0221.结论中国云南傣族、景颇族人群存在CX3CR1基因序列中249和280位点突变,突变频率与国内外各种族相比具有一定的可比性.本实验为国内首次对我国傣族、景颇族人群的HIV-1感染协同受体基因CX3CR1进行收集和分析,这在傣族、景颇族人群艾滋病的预防和治疗方面的意义值得深入研究.     

Genetic variants of the class A scavenger receptor gene are associated with coronary artery disease in Chinese

The class A scavenger receptor,encoded by the macrophage scavenger receptor 1(MSR1) gene,is a pattern recognition receptor(PPR) primarily expressed in macrophages.It has been reported that genetic polymorphisms of MSR1 are significantly associated with the number of diseased vessels and coronary artery narrowing greater than 20% in Caucasians.However,whether it links genetically to coronary artery disease(CAD) in Chinese is not defined.Here,we performed an independent case-control study in a Chinese population consisting of 402 CAD cases and 400 controls by genotyping ten single nucleotide polymorphisms(SNPs) of MSR1.We found that rs416748 and rs13306541 were significantly associated with an increased risk of CAD with per allele odds ratio(OR) of 1.56 [95% confidence interval(CI) = 1.28-1.90;P < 0.001] and 1.70(95% CI = 1.27-2.27;P < 0.001),respectively.Our results indicate that genetic variants of MSR1 may serve as predictive markers for the risk of CAD in combination with traditional risk factors of CAD in Chinese population.     

相同来源HIV-1 Env、Gag基因序列变异和宿主基因多态性与疾病进展关系的分析

目的探讨HIV—1基因序列变异和宿主基因多态性与疾病进展的关系。方法PCR方法从外周血细胞中扩增HIV—1 Env、Gag区片段和测序，分析序列变异、糖基化，超突变等指标。RFLP法确定宿主基因多态性。结果未治疗组中，env基因区PCR和克隆序列平均离散率分别为0．1和0．06，差异有统计学意义，治疗组内差异没有统计学意义。V3环顶端序列在未治疗和治疗组中均以GPGQ比例最大（61．5％和39％），治疗组出现稀有多肽序列如GPGH、GQGR、GLGR、12位I／V和21位Y／H变异与疾病快速进展相关。Env区段上进展较快速组（RRP）比典型进展组（TP）的糖基化程度高（平均值分别为14．56和13．20个），差异有统计学意义。Env区段上RRP比TP组GA取代百分率和绝对数平均值都高（8．7％／6．9％和10．1／7．6），差异也有统计学意义。TP组中SDF1—3’A和CCR2V62I基因频率均高于RRP组，但差异没有统计学意义。CX3CR1 V249I／M280T与疾病快速进展没有显著相关性。结论V3区序列主要位点的氨基酸变异、Env区段糖基化程度、GA取代与疾病进展相关。SDF1—3’A、CCR2V641和CX3CR1 2491／280M与疾病进展均无显著相关性。     

蒙古族原发性高血压人群与血管紧张素转换酶ACE I/D基因及血管紧张素原AGT M235T基因多态性的关系

目的研究血管紧张素转换酶（ACE）基因及血管紧张素原（AGT）基因多态性与蒙古族原发性高血压病的关系。方法应用PCR-RFLP技术检测96例原发性高血压患者与正常对照组108名健康受试者血管紧张素转换酶基因第16内含子I／D多态性及血管紧张素原基因第二外显子M235T多态性。结果①蒙古族人群ACE基因I／D位点II、ID、DD基因型频率在高血压组和正常血压组分别为0.44、0．38、0．18和0．42、0．32、0．26，差异无显著性（χ^2=1.693，P=0．192，OR=0．643，95％可信区间0．330-1．254）；②I、D等位基因的频率分别为0．63、0．37和0．58、0．42，差异无显著性（χ^2=0．808，P=0.363，OR=0．834，95％可信区间0．560-1．240）；③AGT M235T位点MM、MT、TT基因型的频率在高血压组和正常血压组分别为0．21、0.73、0．06和0．55、0．34、0．11，两组之间差异无显著性（χ^2=0．495，P=0．482，OR=0．681，95％可信区间0．233-1．993）。④M、T等位基因频率分别为0．58、0．42和0．72、0．28，差异无显著性（χ^2=0．051，P=0．821，OR=1．047，95％可信区间0．702-1．562）；⑤同时分析AGT基因M235T基因型与ACE基因I／D基因型时结果为它们在蒙古族人群患高血压方面无协同作用。各亚组比较高血压组与对照组均无统计学差异，P〉0．05。结论血管紧张素转换酶基因I／D基因型和血管紧张素原基因M235T基因型与蒙古族人群发生原发性高血压无关。     

Hsa-mir-499 rs3746444 polymorphism and cancer risk: a meta-analysis

MicroRNAs(miRNAs) are gene regulators involved in numerous diseases including cancer,heart disease,neurological disorders,vascular abnormalities and autoimmune conditions.Although hsa-mir-499 rs3746444 polymorphism was shown to contribute to the susceptibility of multiple genes to cancer,the data have yielded conflicting results.Therefore,this meta-analysis was performed to provide a comprehensive assessment of potential association between hsa-mir-499 rs3746444 polymorphism and cancer risk.In this meta-analysis,a total of 9 articles regarding 10 eligible case-control studies in English(including 6134 cases and 7141 controls) were analyzed.No significant association between hsa-mir-499 rs3746444 polymorphism and overall cancer risk was demonstrated.However,an increased risk was observed in the subgroup of breast cancer patients(G allele vs A allele:OR = 1.10,95% CI = 1.00-1.20;P heterogeneity = 0.114;I 2 = 53.9%) and population-based studies(G allele vs A allele:OR = 1.12,95% CI = 1.00-1.25;P heterogeneity = 0.062;I 2 = 64.0%).The findings suggested an association between hsa-mir-499 rs3746444 polymorphism and increased risk to breast cancer.     

基质金属蛋白酶9基因-1562C/T多态性与新疆维吾尔族心肌梗死的相关性研究

Objective To investigate the association between matrix metalloproteinase 9 gene (MMP9)- 1562C/T polymorphism and myocardial infarction (MI) in Uighur population of Xinjiang.Methods A total of 347 patients with MI evidenced by coronary arteriography, and 403 controls free from coronary artery disease with normal angiograms were recruited for the study. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was used to detect the -1562C/T functional promoter polymorphism of the MMP9 gene. The relationship between the polymorphism and the severity of coronary arterial stenosis was analyzed. Results The results showed that the frequency of CT and TT genotypes in patients with MI (27. 67%) was significantly higher than that in controls (14. 14%). The frequencies of the - 1562T allele were 15. 71% and 7. 56% in the MI group and the control group respectively (2 = 24.57, P＜0.01). Logistic regression analysis indicated that the T allele carriers (CT+TT) had significantly increased risk of MI compared with the CC carriers (OR=2. 009, 95%CI: 1. 250-3. 230). Individuals carrying the -1562T allele with diabetes mellitus were at an increased risk of MI (OR=3. 714, 95% CI: 1. 299-10. 773). The frequencies of CT and TT genotypes were not significantly different among MI patients with one, two and three or more significantly diseased vessels (χ2 =0. 491, P=0. 782). Conclusion The - 1562C/T polymorphism in the MMP9 gene promoter is associated with the susceptibility to MI in the Uighur population of Xinjiang. The T allele might be a risk factor of MI. And there was a coordinated effect between the -1562T allele and diabetes mellitus in the development of MI.The -1562C/T polymorphism may not be a predictor of the severity of coronary atherosclerosis.     

基质金属蛋白酶9基因-1562C/T多态性与新疆维吾尔族心肌梗死的相关性研究

Objective To investigate the association between matrix metalloproteinase 9 gene (MMP9)- 1562C/T polymorphism and myocardial infarction (MI) in Uighur population of Xinjiang.Methods A total of 347 patients with MI evidenced by coronary arteriography, and 403 controls free from coronary artery disease with normal angiograms were recruited for the study. Polymerase chain reactionrestriction fragment length polymorphism (PCR-RFLP) was used to detect the -1562C/T functional promoter polymorphism of the MMP9 gene. The relationship between the polymorphism and the severity of coronary arterial stenosis was analyzed. Results The results showed that the frequency of CT and TT genotypes in patients with MI (27. 67%) was significantly higher than that in controls (14. 14%). The frequencies of the - 1562T allele were 15. 71% and 7. 56% in the MI group and the control group respectively (2 = 24.57, P＜0.01). Logistic regression analysis indicated that the T allele carriers (CT+TT) had significantly increased risk of MI compared with the CC carriers (OR=2. 009, 95%CI: 1. 250-3. 230). Individuals carrying the -1562T allele with diabetes mellitus were at an increased risk of MI (OR=3. 714, 95% CI: 1. 299-10. 773). The frequencies of CT and TT genotypes were not significantly different among MI patients with one, two and three or more significantly diseased vessels (χ2 =0. 491, P=0. 782). Conclusion The - 1562C/T polymorphism in the MMP9 gene promoter is associated with the susceptibility to MI in the Uighur population of Xinjiang. The T allele might be a risk factor of MI. And there was a coordinated effect between the -1562T allele and diabetes mellitus in the development of MI.The -1562C/T polymorphism may not be a predictor of the severity of coronary atherosclerosis.     

Polymorphism of the fractalkine receptor CX3CR1 and systemic sclerosis-associated pulmonary arterial hypertension

Fractalkine (FKN) and its receptor CX3CR1 are critical mediators in the vascular and tissue damage of several chronic diseases, including systemic sclerosis (SSc) and pulmonary arterial hypertension (PAH). Interestingly, the V249I and T280M genetic polymorphisms influence CX3CR1 expression and function. We investigated whether these polymorphisms are associated with PAH secondary to SSc. CX3CR1 genotypes were analyzed by PCR and sequencing in 76 patients with limited SSc and 204 healthy controls. PAH was defined by colorDoppler echocardiography. Homozygosity for 249II as well as the combined presence of 249II and 280MM were significantly more frequent in patients with SSc compared to controls (17 vs 6%, p = 0.0034 and 5 vs 1%, p = 0.0027, respectively). The 249I and 280M alleles were associated with PAH (odd ratio [OR] 2.2, 95% confidence interval [CI] 1.01-4.75, p = 0.028 and OR 7.37, 95%CI: 2.45-24.60, p = 0.0001, respectively). In conclusion, the increased frequencies of 249I and 280M CX3CR1 alleles in a subgroup of patients with SSc-associated PAH suggest a role for the fractalkine system in the pathogenesis of this condition. Further, the 249I allele might be associated with susceptibility to SSc.     

T280M and V249I polymorphisms of fractalkine receptor CX3CR1 and ischemic cerebrovascular disease

The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphisms, V249I and T280M has been recently reported. The atherosclerosis of intracranial vessels is thought to be the major pathological mechanism of ischemic stroke. In this study, we investigated the risk of ischemic stroke associated with fractalkine receptor CX3CR1 polymorphisms. We investigated the T280M and V249I mutations in the CX3CR1 gene in 235 Japanese patients with ischemic cerebrovascular disease (CVD) and 306 age- and sex-matched healthy controls. Polymerase chain reaction and restriction fragment length polymorphism were used for genotyping. There was no significant difference in both polymorphisms between patients with ischemic CVD and controls (VV versus II+VI, p=0.83; TT versus MM+TM, p=0.66). The I and M allele frequencies were not significantly different between CVD patients and controls: odds ratio (OR)=0.89 (95% confidence interval (CI)=0.50-1.60, p=0.70) and OR=1.19 (95% CI=0.71-2.00, p=0.51), respectively. We found eight of nine possible combined genotypes, including a new haplotype V249-M280, in Japanese. Our results show that these CX3CR1 gene polymorphisms are not associated with an increased risk for ischemic CVD in the Japanese population.     

Spanish HIV-1-infected long-term nonprogressors of more than 15 years have an increased frequency of the CX3CR1 249I variant allele

BACKGROUND AND OBJECTIVES: The influence of the polymorphisms of the CX3CR1 chemokine receptor gene on the natural history of HIV-1 infection is controversial. This study aimed to determine whether functionally active CX3CR1 genetic variants are associated with long-term nonprogressive infection of >15 years in HIV-1-infected Spanish patients. PATIENTS AND METHODS: Two single-nucleotide polymorphisms, V249I (G > A) and T280M (C > T), of the CX3CR1 gene were assessed in 271 Spaniards. These included 60 HIV-1-infected patients who were long-term nonprogressors (LTNPs) of >15 years, 109 HIV-1-infected patients who were usual progressors (UPs), and 102 control subjects. The CCR5Delta32 was also assessed. Genotyping was performed using polymerase chain reaction and automatic sequencing analysis methods on white cell DNA. Genotype and allele frequencies were compared by the chi test and the Fisher exact test. RESULTS: The frequencies of the 249I variant allele were 42% for LTNPs, 24.5% for UPs, and 35% for healthy controls; the differences between LTNPs and UPs were significant (odds ratio 0.46; 95% CI: 0.27 to 0.75; P = 0.0017). For 280M the distribution was 16% for LTNPs, 14% for UPs, and 17% for healthy controls (P = NS). The haplotype 249I280T was significantly more common in LTNPs than in UPs (P = 0.0007). These results persisted after excluding from the analysis the individuals carrying the CCR5Delta32. CONCLUSIONS: CX3CR1 249I variant allele is more frequent in Spanish HIV-1-infected LTNPs of >15 years. This effect is independent of the presence of the CCR5Delta32 allele.     

载脂蛋白A5基因-1131T〉C多态性与冠心病易感性的关联研究

目的探讨载脂蛋白A5(apoA5)-1131T>C单核苷酸多态性与冠心病(CAD)发病风险之间的关系.方法经冠状动脉造影确诊的江苏地区冠心病患者235例,同一地区正常对照262名,采用PCR-RFLP分析对 apoA5基因的-1131T>C多态进行检测,比较不同基因型与个体血脂水平和冠心病患病风险的关系.结果 -1131T>C单核苷酸多态位点等位基因T、C频率在CAD组和正常对照组中分别为59.57%、40.43%和65.65%、34.35%.CAD组中C等位基因的频率高于对照组(P<0.05).与-1131TT基因型者比较,CC基因型者的冠心病患病风险显著增加(OR＝1.872,95%CI＝1.039-3.376,P=0.037),用Logistic回归模型对个体的年龄、性别、体重指数和抽烟、高血压等因素后,其患病风险仍明显增加(OR＝2.285, 95%CI＝1.222-4.274).对照组中不同基因型个体血浆甘油三酯水平差异有统计学意义(P=0.007),携带C等位基因的个体TG水平显著高于TT基因型个体.结论 apoA5基因-1131T>C多态性C等位基因是中国人群中冠心病发病的危险因素之一,且与血浆TG水平的变化密切相关.     

应用高分辨熔解曲线技术检测先天性巨结肠症患儿RET基因单核苷酸多态性

目的研究山西汉族人群先天性巨结肠症(Hirschsprung’s disease,HSCR)患者RET基因A45A,L125L,G691S的基因多态性的基因型和等位基因频率,探讨其基因多态性与HSCR发病的关系。方法应用高分辨率熔解曲线技术(High Resolution Melt,HRM)以及产物测序,序列比对的方法,对山西省80例散发性先天性巨结肠症患儿和80例健康儿童进行RET基因A45A,V125V,G691S位点分析。结果 A45A位点存在多态性,病例组突变型A和野生型G等位基因频率为84.37%和15.63%;对照组中突变型A和野生型G等位基因频率为47.50%和52.50%。与对照组相比两组间等位基因差异显著(χ2=48.43,P<0.05)。风险等位基因为A等位基因,OR=5.97,95%可信区间为3.609～9.874。G691S病例组突变型A和野生型G等位基因的频率为8.12%和91.88%;在对照组突变型A和野生型G等位基因频率为5.62%和94.38%,两组比较差异无明显差异(χ2=0.7810,P>0.05)。V125V可能不存在基因多态性。结论在山西汉族人群中,RET基因A45A多态性与先天性巨结肠症显著相关,未发现G691S与HSCR存在相关性,V125V可能不存在基因多态性。     

Association study between the CX3CR1 gene and asthma

CX3CR1, a fractalkine receptor, mediates cell-adhesive and migratory functions in inflammation. Based on CX3CR1 expression observed in bronchial tissues of asthmatic subjects, we hypothesized that genetic variation at this locus may affect susceptibility to asthma. We carried out an association study and a haplotypic analysis with selected polymorphisms of the CX3CR1 in a familial asthmatic sample from a founder population. Genetic analyses performed by FBAT software showed five CX3CR1 single nucleotide polymorphisms (rs938203, rs2669849, rs1050592, T280M and V249I) with significant associations between their common alleles and asthma (P<0.004) in a dominant model. A haplotype formed with common alleles of rs1050592, T280M and V249I is also overtransmitted in asthmatic subjects (P=0.005) under a dominant model. The associations of V249I and rs2669849 have been validated in an independent case-control sample. For V249I, odds ratios (OR) are 2.16 (common homozygous) and 2.11 (heterozygous) in dominant model (P=0.031). For rs2669849, OR are 2.75 (common homozygous) and 1.86 (heterozygous) in additive model (P=0.007) and dominant model (P=0.059). These results suggest an asthma protective effect of the minor alleles in healthy control carriers. Further functional studies of CX3CR1 are needed to document its role in the pathophysiology of asthma.     

Analysis of vascular endothelial growth factor gene 936 C/T polymorphism in patients with familial Mediterranean fever

Vascular endothelial growth factor (VEGF) is a cytokine that promotes endothelial cell proliferation, leucocyte chemotaxis and expression of adhesion molecules and is a major mediator of vascular permeability. It has been demonstrated that VEGF directly activates neutrophils and it could promote acute recruitment of leucocytes. It is known that neutrophils are the major cell population involved in acute inflammation in familial Mediterranean fever (FMF) and the role of VEGF in these cells may be crucial. The aim of this study was to investigate whether the 936 C/T functional polymorphism of the VEGF gene is associated with susceptibility to FMF and its relationship with the main clinical features of the disease. Polymerase chain reaction-restriction fragment length polymorphism technique was used to determine 936 C/T polymorphism within the VEGF gene in 75 patients with FMF and 122 non-related healthy controls. Genotype and allele frequencies of the VEGF 936 C/T polymorphism between patients with FMF and healthy control groups were not significantly different (OR = 0.74, 95% CI = 0.40-1.37, P = 0.335 for CT genotype; OR = 1.11, 95% CI = 0.67-1.83, P = 0.700, for T allele). Although VEGF 936 TT genotype was found to be more frequent in patients with FMF than in healthy controls (6.7% vs. 1.6%, respectively), the difference was not significant (OR = 4.28, 95% CI = 0.81-22.67, P = 0.108). No associations were found between the studied polymorphism and either the clinical features such as arthritis, abdominal pain, pleuritis, myalgia, arthralgia and erysipelas-like erythema of the disease or the four common studied exon 10 mutations (M694V, M680I, V726A, M694I) of the Mediterranean fever gene. Present results suggest that VEGF gene 936 C/T polymorphism does not seem to be associated with susceptibility to FMF and its clinical manifestations.     

Association of PTPN22 C1858T polymorphism and type 1 diabetes: a meta-analysis

Recently, protein tyrosine phosphatase nonreceptor 22 (PTPN22) C1858T polymorphism has been identified as a susceptibile gene for type 1 diabetes (T1D), but studies are inconsistence, In order to assess the association between PTPN22C1858T polymorphism and T1D based on different ethnicities, a meta-analysis was performed, including 26 studies, total of 16,240 patients and 17,997 controls. Meta-analysis was performed on T versus C, T/T+T/C versus C/C (dominant model) and T/T versus T/C+C/C (recessive model) in a fixed/random effects model. The results indicated an association between the PTPN22 C1858T polymorphism and T1D in all subjects. The overall odds ratio (OR) of T versus C using the fixed effects model was 1.948 (95% CI = 1.859～2.041, P < 0.001). After stratification by ethnicity, analysis revealed that the PTPN22 C1858T polymorphism T allele was significantly associated with T1D in Europeans, Americans (OR = 1.946, 95% CI = 1.852~2.045, P < 0.001; OR = 1.946, 95% CI = 1.690~2.242, P < 0.001, respectively). Meta-analysis of the T/T+T/C genotype and the T/T genotypes showed the same results as that shown by the PTPN22 C1858T polymorphism T allele. This meta-analysis suggests a possible association between the PTPN22 C1858T polymorphism and T1D, especially in European and American populations.     

IkappaBalpha promoter polymorphisms in patients with rheumatoid arthritis

To investigate the role of inhibitor of kappaBalpha promoter polymorphisms in the pathogenesis of rheumatoid arthritis (RA), 140 patients with RA and 115 healthy controls were enrolled in this study. The IkappaBalpha promoter polymorphisms were determined using the polymerase chain reaction/restriction fragment length polymorphisms method. In comparison with IkappaBalpha-826 C/C, the genotype frequency of IkappaBalpha-826 C/T was significantly higher in the patients with RA than that of the controls (P = 0.009, OR = 2.0, 95% CI = 1.2-3.4). The allele frequency of IkappaBalpha-826 T was also significantly increased in patients with RA when compared with that of the controls (P = 0.027, OR = 1.6, 95% CI = 1.1-2.4). In comparison with IkappaBalpha-550 A/A, the genotype frequency of IkappaBalpha-550 A/T was significantly decreased in patients with RA when compared with that of the controls (P = 0.02, OR = 0.2, 95% CI = 0.06-0.8). The allele frequency of IkappaBalpha-550 A was significantly increased in patients with RA (P = 0.007, OR = 5.1, 95% = 1.4-18.2). This study also revealed that the IkappaBalpha-826 T -550 A -519 C haplotype was significantly increased in patients with RA in comparison to that of controls (P = 0.01, OR = 1.8, 95% CI = 1.1-2.8). The IkappaBalpha-826 T and -550 A alleles are associated with susceptibility to RA. Moreover, the IkappaBalpha-826 T -550 A -519 C haplotype is associated with susceptibility to RA in Taiwan.     

The relationship between tumour necrosis factor-α gene polymorphism and susceptibility and clearance of the persistent hepatitis B virus infection in a Chinese population: a meta-analysis

To date, many studies conducted in the Chinese population have determined the correlation between the tumour necrosis factor-α (TNF-α)-238G/A, -308G/A, -857C/T and -863C/A polymorphisms and persistent hepatitis B virus (HBV) infection. However, their results remain inconclusive. With the aim of confirming this correlation, we performed a meta-analysis of 19 studies. The dichotomous data are presented as the OR with a 95% CI. The results of our study indicate that carriers of the TNF-a-857T allele among the pooled Chinese population were more likely to show spontaneous clearance of HBV (T vs C: OR = 0.824, 95% CI = 0.713–0.953, p 0.009; TT vs CC: OR = 0.701, 95% CI = 0.507–0.970, p 0.032; TC vs CC: OR = 0.804, 95% CI = 0.683–0.947, p 0.009; TT + TC vs CC: OR = 0.835, 95% CI = 0.716–0.974, p 0.021). The TNF-a-308A allele was associated with significantly reduced persistent HBV infection risk in the Chinese (A vs G: OR = 0.585, 95% CI = 0.456–0.751, p 0.002; AG vs GG: OR = 0.519, 95% CI = 0.341–0.789, p <0.000; AA + AG vs GG: OR = 0.512, 95% CI = 0.339–0.772, p 0.001). Persistent HBV infection susceptibility is associated with the TNF-α-308G/A gene polymorphism in the Chinese population, whereas HBV clearance is associated with the TNF-α-857C/T gene polymorphism.