Objective To investigate the association of the polymorphism of resistin gene SNP-420C/G and type 2 diabetes (T2DM) among the Chinese Han population. Methods Such databases as CNKI, WanFang database, VIP, SinoMed, and PubMed were electronically searched from January 2001 to July 2010 to collect case-control studies on polymorphism of resistin gene SNP-420C/G and T2DM among the Chinese Han population. The quality of the included studies was evaluated and the data was extracted. RevMan 4.2 software was used for meta-analyses. Results A total of five case-control studies were identified, involving 709 cases in the T2DM group and 572 cases in the control group. The results of meta-analysis showed that the Chinese Han population with CC genotypes of SNP-420 had no higher risks to T2DM (OR=1.02, 95%CI 0.81 to 1.29), and the Chinese Han population with GG genotypes of SNP-420 still had no higher risks to T2DM (OR=1.34, 95%CI 0.95 to 1.90). Conclusion Current evidence suggests that there is no association between the polymorphism of resistin gene SNP-420C/G and risk to T2DM among the Chinese Han population.
ObjectiveTo investigate the association of high density lipoprotein cholesterol (HDL-C) and cholesterol ester transfer protein (CETP) TaqIB mutation with non-arteritic anterior ischemic optic neuropathy (NA-AION) in the Shaanxi Han ethnic population. MethodsThe study cohort consisted of 45 individuals that had been diagnosed with NA-AION and 45 healthy controls (matched for age, gender). None of the cases or controls had a history of diabetes, serious cardio-cerebral vascular diseases, liver and kidney dysfunction that might influence plasma lipid levels. Plasma HDL-C was detected by enzyme-linked immunosorbent one-step, through the Toshiba TBA-40FR automatic biochemical analyzer. CETP TaqIB gene polymorphism was determined by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) techniques for analysis. B2B2 genotype was only a fluorescence band with 535 bp; B1B1 genotype was 2 fluorescence bands with 361, 174 bp; B1B2 genotype was 3 fluorescence bands with 535, 361, 174 bp. The relative risk of genotype, HDL-C and disease occurrence was analyzed by logistics regression analysis. ResultsThere have no significant difference between NA-AION patients and controls about plasma total cholesterol level and triglyceride level (t=1.907, 1.877; P > 0.05). The plasma HDL-C levels were significantly lower in NA-AION patients than in controls (t=2.367, P=0.022). Compared with controls, the prevalence of B1B1 genotype and B1 allele was higher (χ2=17.289, P=0.001), the prevalence of B2 allele (χ2=15.648, P=0.000) was lower in NA-AION patients. The lower concentration of HDL-C was risk factor of NA-AION (odds ratio=6.143, 95% confidence interval 1.262-29.895, χ2=27.676;P=0.013). The proportion of B1B1 genotype was significantly higher in NA-AION patients than in controls (odds ratio=2.24, 95% confidence interval 2.427-36.323, χ2=10.526; P=0.001). ConclusionsThe low plasma HDL-C is independent risk factor for NA-AION and is associated with the development of NA-AION in the Shaanxi Han ethnic population. CETP TaqIB mutation is associated with low plasma HDL-C in NA-AION in the Shaanxi Han ethnic population.
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 investigate the relationship between the mannose-binding lectin 2 (MBL2) codon 52 A/D gene polymorphism and tuberculosis risk by meta-analysis. MethodsThe Embase, PubMed, China National Knowledg Infrastructure, Wanfang databases were searched to identify domestic and foreign case-control studies involving the association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk from establishment of these database till May 20, 2015. Two reviewers collected data according to the inclusion and exclusion criteria, and extracted data and assessed quality of the literature. Meta analysis was performed by RevMan 5.2 software and Stata 10.0 software. ResultsIn total, 1 282 cases and 1 483 controls from nine case-control studies were included in this meta-analysis. According to the test of heterogeneity, there was statistical heterogeneity among these studies (P < 0.1). Thus, we conducted the analysis by the random effect model on the basis of heterogeneity test. The results indicated that MBL2 codon 52 A/D gene polymorphism might not be associated with risk of tuberculosis [DD+AD versus AA: OR=1.46, 95% CI (0.87, 2.43), P=0.15] in total analysis by random effect model. However, when stratifying separately according to ethnicity, a significant association between MBL2 codon 52 A/D gene polymorphism and tuberculosis risk was found in Asians [OR=1.96, 95% CI (1.27, 3.03), P=0.003 for DD+AD versus AA], but not among Caucasians [OR=1.36, 95% CI (0.52, 3.56), P=0.53 for DD+AD versus AA]. Conclusions The present meta-analysis indicates that the polymorphism of MBL2 codon 52 A/D may be a risk factor for TB in Asians. But the MBL2 codon 52 A/D gene polymorphism may not contribute to the risk of tuberculosis in Caucasians.
ObjectiveTo systematically evaluate the association between human leukocyte antigen DQ (HLA-DQ) gene rs2856718A>G, rs9275572A>G polymorphisms and the risk of chronic hepatitis B. MethodsPubMed, EMbase, CBM, WanFang Data, CNKI and VIP databases were systematically searched from inception to April 2015 to collect case-control studies about HLA-DQ gene polymorphisms and the risk of chronic hepatitis B. Two reviewers independently screened literature, extracted data and assessed the risk of bias of included studies. Then, meta-analysis was performed using RevMan 5.3 software, and Stata 12.0 software was used for sensitivity and publication bias analysis. ResultsA total of 6 papers involving 8 case-control studies were included, which involved 3 690 cases and 6 267 controls. The results of meta-analysis showed that:the rs2856718A>G polymorphism was associated with the decreased risk of chronic hepatitis B (AG+GG vs. AA:OR=0.63, 95%CI 0.51 to 0.78, P=0.000; GG vs. AG+AA:OR=0.69, 95%CI 0.61 to 0.79, P=0.000; GG vs. AA:OR=0.56, 95%CI 0.48 to 0.64, P=0.000; GA vs. AA:OR=0.64, 95%CI 0.47 to 0.88, P=0.006; G vs. A:OR=0.74, 95%CI 0.68 to 0.79, P=0.000). The rs9275572A>G polymorphism was not associated with the risk of chronic hepatitis B (AG+GG vs. AA:OR=1.11, 95%CI 0.55 to 2.23, P=0.770; GG vs. AG+AA:OR=1.10, 95%CI 0.84 to 1.45, P=0.500; GG vs. AA:OR=1.14, 95%CI 0.54 to 2.41, P=0.730; AG vs. AA:OR=1.06, 95%CI 0.56 to 2.02, P=0.860; G vs. A:OR=1.11, 95%CI 0.83 to 1.48, P=0.490). ConclusionHLA-DQ gene rs2856718 A>G polymorphism is significantly associated with decreased risk of chronic hepatitis B, but the rs9271319 A>G polymorphism is not associated with the risk of chronic hepatitis B.
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.
Objective To investigate the association of the polymorphism of the cystathionine β synthase (CBS) T833C, CBS 844ins68 and cerebral arterial thrombosis in Chinese population. Methods We electronically searched CBM, CNKI, Wanfang database, VIP and PubMed from 1999 to February 2010 to collect case studies on CBS polymorphism and cerebral arterial thrombosis of the Chinese. We evaluated the quality of the included studies and the extracted data. RevMan 4.2 was used for meta-analyses. Results We identified 4 case-control studies on association of CBS T833 polymorphism and cerebral arterial thrombosis of the Chinese. In Shandong subgroup, the Chinese people with TC+CC genotypes of T833C had higher risk of cerebral arterial thrombosis at OR 5.01 and 95%CI 2.63 to 9.53 (Plt;0.000 01). In non-Shandong subgroup, higher risk of cerebral arterial thrombosis was found in the Chinese people with genotype of CT+CC at OR 0.95 and 95%CI 0.60 to 1.50 (P=0.82). Meta-analyses of the 4 case studies showed there were no significant differences in the risk of cerebral arterial thrombosis between people with genotype of DI and II and people with genotype of DD at OR 1.20 and 95%CI 0.72 to 1.99 (P=0.49). Conclusion Our findings suggest that in Chinese population, CBS T833C polymorphisms might be associated with cerebral arterial thrombosis in Shandong subgroup; 844ins68 polymorphisms does not increase the risk of cerebral arterial thrombosis for the Chinese.
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 investigate the association between IL-1β gene-511C/T polymorphisms and the risk of chronic obstructive pulmonary disease (COPD). MethodsSuch databases as PubMed, EMbase, CNKI, CBM, VIP and WanFang Data were searched for the studies on the association between IL-1β gene-511C/T polymorphisms and the risk of COPD up to May 2014. According to inclusion and exclusion criteria, two reviewers independently screened literature, extracted data, and assessed methodological quality of included studies. Then meta-analysis was performed using RevMan 5.0 software. ResultsA total of 10 case-control studies from 9 articles involving 1 171 cases and 1 268 controls were included. The results of meta-analysis showed that, no significant association was found between IL-1β gene-511C/T polymorphisms and the risk of COPD:TT+CT vs. CC:OR=1.06, 95%CI 0.66 to 1.70, P=0.82; TT vs. CT+CC:OR=0.87, 95%CI 0.60 to 1.26, P=0.32; TT vs. CC:OR=0.95, 95%CI 0.51 to 1.75, P=0.86; CT vs. CC:OR=1.10, 95%CI 0.71 to 1.70, P=0.15; T vs. C:OR=0.97, 95%CI=0.72 to 1.30, P=0.84. The results of subgroup analysis by ethnicity showed that, no significant association was found between IL-1β gene-511C/T polymorphisms and the risk of COPD among Caucasians and Asians. ConclusionIL-1β gene-511C/T polymorphisms might not contribute to the risk of COPD.
ObjectiveTo systematically review the association between the IL-6 gene -634G/C polymorphism and the risk of lung cancer. MethodsDatabases including the PubMed, EMbase, CNKI and WanFang Data were searched from inception to October 2015 to collect case-control studies about the correlation between the IL-6 gene -634G/C polymorphism and the risk of lung cancer. 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 12 case-control studies concerning 3 657 lung cancer cases and 4 100 controls from 11 articles were included. The results of meta-analysis showed that there was no significant association between the -634G/C polymorphism and the risk of lung cancer (GG+GC vs. CC: OR=1.11, 95%CI 0.89 to 1.39, P=0.37; GG vs. CC+GC: OR=1.17, 95%CI 0.88 to 1.55, P=0.27; GG vs. CC: OR=1.27, 95%CI 0.93 to 1.72, P=0.13; GC vs. CC: OR=1.12, 95%CI 0.89 to 1.40, P=0.33; G vs. C: OR=1.08, 95%CI 0.89 to 1.30, P=0.43). ConclusionIL-6 gene -634G/C polymorphism may not be a risk factor of lung cancer. Due to the limited quality and quantity of included studies, more high quality studies are needed to verify the above conclusion.