Abstract Objective To assess the association of TNF-α and IL-1RA SNPs with the risk of silicosis in Chinese workers exposed to silica particles. Methods Case-control study design was used to enroll 68 silicotic patie...Abstract Objective To assess the association of TNF-α and IL-1RA SNPs with the risk of silicosis in Chinese workers exposed to silica particles. Methods Case-control study design was used to enroll 68 silicotic patients induced by silica particles and 68 healthy workers matched for length of silica particle exposure as controls. Both cases and controls were from the same company in southwest China, and each of them was requested to complete a questionnaire. Blood samples were drawn for genomic DNA extraction from each participant. The genotyping of TNF-α （-238 and -308） and IL-1RA （＋2018） was performed using polymerase chain reaction-based restriction fragment length polymorphism （PCR-RFLP） and SYBR green-based quantitative polymerase chain reaction {qPCR）, respectively. Unconditional logistic regression model was used to estimate odds ratios （ORs） and their 95% confidential intervals （Cl） for SNPs. Results No significant differences were found between cases and controls in particles exposure length, body mass index （BMI）, and status of smoking and alcohol consumption except for age （P=O.O01） and blood type （P=0.042）. The frequencies of TNF-c（（-238） and IL-1RA （＋2018） genotypes in cases were significantly different from those in controls, （P=O.O01 and P=0.O02, respectively）, while a borderline significant difference was found in the frequencies of TNF-α（-308） between cases and controls （P=0.063）. The variants of three SNPs increased the risk of silicosis in the Chinese workers exposed to silica particles. The adjusted ORs of TNFα（-308）, TNF-α（-238） and IL-1RA （＋2018） were 2.8 （95% Ch 2.1-7.5）, 20.9 （95% Ch 2.8-236.4） and 4.0 （95% CI： 2.6-10.2）, respectively. Conclusion It is suggested that cytokine polymorphisms of TNF-ct （-238, -308） and IL-1RA （＋2018） are associated with the risk of silicosis in the Chinese workers exposed to silica particles. Further independent studies on the interaction between SNPs and exposure to silica particles with a larger sample size are therefore warranted.展开更多
To study whether the development of hypertensive disorder complicating pregnancy is associated with --308G→A, -850C→T mutation at promoter of TNF-α gene, the --308G→A, --850C→T polymorphism was examined in patien...To study whether the development of hypertensive disorder complicating pregnancy is associated with --308G→A, -850C→T mutation at promoter of TNF-α gene, the --308G→A, --850C→T polymorphism was examined in patients and healthy pregnant women by PCR-RFLP technique. The frequencies of genotype and allele were compared between the two groups. The results showed that with-308G→A polymorphism distribution, the allele frequency of TNF2 and the frequency of the genotype TNF2/1 in the patient group was significantly higher in the patient group than in control group （P〈0.05）. A significant difference in genotype distribution of --850C→T polymorphism was observed between the two groups. The allele frequencies of T in patient group was higher in the control group as compared with the patient group. The frequencies of CT and TT genotypes were lower in the patient group. It is concluded that the TNF2 allele of -308 is associated with the occurrence of hypertensive disorder complicating pregnancy, while T allele of--850 may be the protective factor against the development of the disease. TNF2/1 CC may be susceptibility genotype of hypertensive disorder complicating pregnancy.展开更多
Objeotive： Many studies have examined the association between the TNF-308 G/A polymorphism gene polymorphisms and hepatocellular carcinoma risk in various populations, but their results have been inconsistent. To ass...Objeotive： Many studies have examined the association between the TNF-308 G/A polymorphism gene polymorphisms and hepatocellular carcinoma risk in various populations, but their results have been inconsistent. To assess this relationship more precisely, a me：a-analysis was performed. Methods： The PubMed and CNKI （China National Knowledge Infrastructure） database was searched for case-control studies. Odds ratios （OR） with 95% CIs were used to determine the strength of association between the TNF-308 G/A polymorphisms and HCC risk. The pooled ORs for the risk associated with the TNF-308 G/A genotype, the A carriers （A/G ＋ A/A） vs. the wild-type homozygntes （G/G）, A/A vs. G/G were calculated, respectively. Subgroup analyses were done by ethnicity and smoking status. Heterogeneity assumptions were assessed by chi-square-based Q-test. Results： Ultimately, 21 studies, comprising 2,923 hepatocellular carcinoma cases and 4,323 controls were included. Overall, the A carriers （G/A ＋ A/A） vs. the wild-type homozygotes （G/G）, the pooled OR was 1.05 （95% CI, 0.93-1.19; P=0.000 for heterogeneity）, for A/A vs. G/G the pooled OR was 1.07 （95% CI, 0.95-1.21; P=0.007 for heterogeneity）. In the stratified analysis by erhnicity, the significantly risks were found among non-Asians. However, for Asians, significantly risks were not found. Conclusions： The TNF-308 G/A polymorphisms are not associated with hepatoceUular carcinoma risk among Asians, but for non-Asians.展开更多
Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseas...Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.展开更多
Introduction: There is growing evidence that genetic and environmental factors play an important role in the development and progression of non-alcoholic fatty liver disease (NAFLD). We investigated the association of...Introduction: There is growing evidence that genetic and environmental factors play an important role in the development and progression of non-alcoholic fatty liver disease (NAFLD). We investigated the association of single nucleotide polymorphism (SNP) rs738409 in PNPLA3 gene and TNF-α G238A polymorphism with the development and severity of NAFLD in an overweight and obese Egyptian population. Material and Methods: 100 overweight and obese patients with NAFLD and 30 control subjects were enrolled. All NAFLD patients underwent a confirmatory biopsy. Laboratory investigations included fasting plasma glucose, kidney and liver function tests, liver enzymes, lipid profile and hepatitis markers. Abdominal ultrasound was performed and all subjects were genotyped for (rs738409) PNPLA3 and (rs361525) TNF-α gene polymorphisms using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results: The homozygous GG genotype of the PNPLA3 was most frequent among patients with NASH (26%) as compared to borderline NASH (20.5%) and simple steatosis (20%). Higher serum levels of transaminases were observed in NAFLD patients and controls who were carriers of the G allele of rs738409, but this was not statistically significant. Regarding the TNF-α G238A SNP;the frequency of the A allele was significantly higher in NAFLD patients (20%) compared to controls (5%) (p value = 0.006). The highest TNF G allele frequency was observed in the NASH group (88%) and this was statistically significant (p value = 0.009). Conclusion: Our study confirmed the association of the PNPLA3 (rs738409) and TNF-α promoter region G238A polymorphisms with susceptibility to NAFLD and its progression.展开更多
AIM： To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-α）, gene promoter and hepatitis B （HB） viral genotypes were associated with outcomes of HBV infection. METHODS： A ...AIM： To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-α）, gene promoter and hepatitis B （HB） viral genotypes were associated with outcomes of HBV infection. METHODS： A total of 244 HBV self-limited infected subjects, 208 asymptomatic carriers, and 443 chronic HB patients were recruited to conduct a case-control study. TNF-α -238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）, and HBV genotypes were examined by nested PCR. RESULTS： The positive rate of HBV DNA in asymptomatic carder group and chronic HB group was 46.6% and 49.9%, respectively. HBV genotype proportion among the asymptomatic carriers was 2.1% for genotype A, 25.8% for genotype B, 68.0% for genotype C, and 4.1% for genotype B＋C mixed infection, and 0.9% for genotype A, 21.7% for genotype B, 71.5% for genotype C, 5.9% for genotype B＋C mixed infection in chronic HB group. There was no significant difference in genotype distribution between the asymptomatic carrier group and chronic HB group （X^2 = 1.66, P = 0.647）. The frequency of -238GG genotype in self-limited group was 95.1%, significantly higher than 90.7% in chronic HB group and 89.0% in asymptomatic carrier group （P = 0.041 and P = 0.016, respectively）.The frequency of TNF-α-857 CC in chronic HB group was 79.7%, significantly higher than 64.4% in asymptomatic carrier group and 70.9% in self-limited group （P〈0.001 and P = 0.023, respectively）. A multiple logistic regression analysis revealed that TNF-α-238GA and -857CC were independently associated with chronic HB after gender and age were adjusted.CONCLUSION： TNF-α promoter variants are likely to play a substantial role in the outcome of HBV infection.展开更多
Objectives To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-o0 gene promoter were associated with outcomes of hepatitis B virus infection. Methods A total of 246 HBV self-lim...Objectives To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-o0 gene promoter were associated with outcomes of hepatitis B virus infection. Methods A total of 246 HBV self-limited infected subjects and 443 chronic hepatitis B （HB） patients were recruited in this case-control study. TNF-α-238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The frequency of TNF-α-238 GG （90.7%） in chronic HB group was significantly lower than that （95.1%） in self-limited group （P=0.041）. The frequency of TNF-oc-857 CC （79.7%） in chronic HB patients was significantly higher than that （70.9%） in self-limited infected subjects （P=0.021）. Multiple logistic regression analysis revealed that both TNF-oc-238GA and -857CC were independently associated with chronic HB. Conclusions TNF-α promoter variants are likely to play a substantial role in influencing the outcomes of HBV infection.展开更多
●AIM:To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy(DR)in an urban community cohort of Chinese patients with type 2 diabetes mellitus(T2 DM).●METHODS:A popul...●AIM:To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy(DR)in an urban community cohort of Chinese patients with type 2 diabetes mellitus(T2 DM).●METHODS:A population-based cross-sectional study.The diabetic subjects were recruited from an urban community in Beijing and categorized into groups of proliferative diabetic retinopathy(PDR),non-proliferative diabetic retinopathy(NPDR),or diabetic without any retinopathy(DWR)based on the fundus photography and duration of diabetes.Six candidate genes,including advanced glycation end product specific receptor(AGER),aldose reductase(AKR1 B1),inducible nitric oxide synthase(i NOS),pigment epithelium derived factor(PEDF),tumor necrosis factor-alpha(TNF-α),and paraoxonase 1(PON1),were chosen based on Meta-analysis of genetic association studies for DR and biochemical pathways implicated in DR progression.The allele and genotype distribution of 21 functional singlenucleotide polymorphisms(SNPs)in those 6 candidate genes were investigated using MassARRAY genotyping system.●RESULTS:Among 1461 diabetic patients recruited from community,569 were selected in following genotyping analysis,including 97 patients with PDR,217 with NPDR,and 255 with DWR.For the promoter variant rs1051993 in AGER gene,the distribution of allele and genotype in PDR group differed from that in DWR group(allele:P=0.011;genotype:P=0.01).Compared with DWR,patients with PDR had lower frequencies of heterozygous genotype GT(9.8%for DWR,1%for PDR,OR:0.10,95%CI:0.01-0.72)and minor allele T(4.9%for DWR,0.5%for PDR,OR:0.10,95%CI:0.01-0.75).In multivariate model,the distribution of genotype for rs1051993 in PDR group was significantly different from that in DWR group(GT vs GG:OR:0.07,95%CI:0.01-0.61,P<0.001).No association with DR was observed in other genotyped SNPs.●CONCLUSION:The data suggest a significant association of the promoter variant rs1051993 in AGER gene with PDR in Chinese cohort with T2DM.展开更多
Objective To investigate the relationship between glucokinase regulator protein(GCKR)gene polymorphism rs780094 and hyperuricemia in Uygur in Xinjiang.Methods A case-control study including 1 026 patients with hyperur...Objective To investigate the relationship between glucokinase regulator protein(GCKR)gene polymorphism rs780094 and hyperuricemia in Uygur in Xinjiang.Methods A case-control study including 1 026 patients with hyperuricemia and 1 030 normal subjects was conducted.All the subjects were genotyped for GCKR展开更多
文摘Abstract Objective To assess the association of TNF-α and IL-1RA SNPs with the risk of silicosis in Chinese workers exposed to silica particles. Methods Case-control study design was used to enroll 68 silicotic patients induced by silica particles and 68 healthy workers matched for length of silica particle exposure as controls. Both cases and controls were from the same company in southwest China, and each of them was requested to complete a questionnaire. Blood samples were drawn for genomic DNA extraction from each participant. The genotyping of TNF-α （-238 and -308） and IL-1RA （＋2018） was performed using polymerase chain reaction-based restriction fragment length polymorphism （PCR-RFLP） and SYBR green-based quantitative polymerase chain reaction {qPCR）, respectively. Unconditional logistic regression model was used to estimate odds ratios （ORs） and their 95% confidential intervals （Cl） for SNPs. Results No significant differences were found between cases and controls in particles exposure length, body mass index （BMI）, and status of smoking and alcohol consumption except for age （P=O.O01） and blood type （P=0.042）. The frequencies of TNF-c（（-238） and IL-1RA （＋2018） genotypes in cases were significantly different from those in controls, （P=O.O01 and P=0.O02, respectively）, while a borderline significant difference was found in the frequencies of TNF-α（-308） between cases and controls （P=0.063）. The variants of three SNPs increased the risk of silicosis in the Chinese workers exposed to silica particles. The adjusted ORs of TNFα（-308）, TNF-α（-238） and IL-1RA （＋2018） were 2.8 （95% Ch 2.1-7.5）, 20.9 （95% Ch 2.8-236.4） and 4.0 （95% CI： 2.6-10.2）, respectively. Conclusion It is suggested that cytokine polymorphisms of TNF-ct （-238, -308） and IL-1RA （＋2018） are associated with the risk of silicosis in the Chinese workers exposed to silica particles. Further independent studies on the interaction between SNPs and exposure to silica particles with a larger sample size are therefore warranted.
文摘To study whether the development of hypertensive disorder complicating pregnancy is associated with --308G→A, -850C→T mutation at promoter of TNF-α gene, the --308G→A, --850C→T polymorphism was examined in patients and healthy pregnant women by PCR-RFLP technique. The frequencies of genotype and allele were compared between the two groups. The results showed that with-308G→A polymorphism distribution, the allele frequency of TNF2 and the frequency of the genotype TNF2/1 in the patient group was significantly higher in the patient group than in control group （P〈0.05）. A significant difference in genotype distribution of --850C→T polymorphism was observed between the two groups. The allele frequencies of T in patient group was higher in the control group as compared with the patient group. The frequencies of CT and TT genotypes were lower in the patient group. It is concluded that the TNF2 allele of -308 is associated with the occurrence of hypertensive disorder complicating pregnancy, while T allele of--850 may be the protective factor against the development of the disease. TNF2/1 CC may be susceptibility genotype of hypertensive disorder complicating pregnancy.
文摘Objeotive： Many studies have examined the association between the TNF-308 G/A polymorphism gene polymorphisms and hepatocellular carcinoma risk in various populations, but their results have been inconsistent. To assess this relationship more precisely, a me：a-analysis was performed. Methods： The PubMed and CNKI （China National Knowledge Infrastructure） database was searched for case-control studies. Odds ratios （OR） with 95% CIs were used to determine the strength of association between the TNF-308 G/A polymorphisms and HCC risk. The pooled ORs for the risk associated with the TNF-308 G/A genotype, the A carriers （A/G ＋ A/A） vs. the wild-type homozygntes （G/G）, A/A vs. G/G were calculated, respectively. Subgroup analyses were done by ethnicity and smoking status. Heterogeneity assumptions were assessed by chi-square-based Q-test. Results： Ultimately, 21 studies, comprising 2,923 hepatocellular carcinoma cases and 4,323 controls were included. Overall, the A carriers （G/A ＋ A/A） vs. the wild-type homozygotes （G/G）, the pooled OR was 1.05 （95% CI, 0.93-1.19; P=0.000 for heterogeneity）, for A/A vs. G/G the pooled OR was 1.07 （95% CI, 0.95-1.21; P=0.007 for heterogeneity）. In the stratified analysis by erhnicity, the significantly risks were found among non-Asians. However, for Asians, significantly risks were not found. Conclusions： The TNF-308 G/A polymorphisms are not associated with hepatoceUular carcinoma risk among Asians, but for non-Asians.
文摘Background: More and more chronic kidney disease (CKD) patients are accompanied with hyperuricaemia. As is known, hyperuricaemia is an independent hazard of both cardiovascular diseases (CVD) and chronic kidney diseases. We aim at identifying Single Nucleotide Polymorphism (SNP) difference of hURAT1 (rs7932775) and ABCG2 (rs3825016) on CKD patient with hyperuricemia and/or gout. Methods: All forty-two CKD patients were divided into two groups: hyperuricemia, and control group. 24 hours urine sample and serum were prepared for testing biochemistry parameters. The polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method is used to analyze hURAT1 and ABCG2 single nucleotide polymorphisms in different groups. Results: 17 patients have CT SNP of hURAT1 (rs7932775) and 13 patients have CT SNP of ABCG2 (rs3825016) in hyperuricemia group, while only 5 persons and 6 persons have the same mutations in control group respectively. 7 patients have CT SNP of both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group, while only 2 persons have the same mutations in control group. CT mutation rates of hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 60.7% (17/28) and 50% (13/28) respectively, higher than that of control group (35.7% (5/14) and 42.8% (6/14)). What is more, Double SNP mutations in both hURAT1 (rs7932775) and ABCG2 (rs3825016) in hyperuricemia group were 25% (7/28), higher than that of control group (14.2%, 2/14). Conclusion: There are higher mutation rates of CT SNP in hURAT1 (rs7932775) and/or ABCG2 (rs3825016) in hyperuricemia group. We can conclude that hyperuricemia is a high risk factor in progress of CKD, which is necessary to take measures of decreasing serum uric acid to delay CKD progress.
文摘Introduction: There is growing evidence that genetic and environmental factors play an important role in the development and progression of non-alcoholic fatty liver disease (NAFLD). We investigated the association of single nucleotide polymorphism (SNP) rs738409 in PNPLA3 gene and TNF-α G238A polymorphism with the development and severity of NAFLD in an overweight and obese Egyptian population. Material and Methods: 100 overweight and obese patients with NAFLD and 30 control subjects were enrolled. All NAFLD patients underwent a confirmatory biopsy. Laboratory investigations included fasting plasma glucose, kidney and liver function tests, liver enzymes, lipid profile and hepatitis markers. Abdominal ultrasound was performed and all subjects were genotyped for (rs738409) PNPLA3 and (rs361525) TNF-α gene polymorphisms using polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP). Results: The homozygous GG genotype of the PNPLA3 was most frequent among patients with NASH (26%) as compared to borderline NASH (20.5%) and simple steatosis (20%). Higher serum levels of transaminases were observed in NAFLD patients and controls who were carriers of the G allele of rs738409, but this was not statistically significant. Regarding the TNF-α G238A SNP;the frequency of the A allele was significantly higher in NAFLD patients (20%) compared to controls (5%) (p value = 0.006). The highest TNF G allele frequency was observed in the NASH group (88%) and this was statistically significant (p value = 0.009). Conclusion: Our study confirmed the association of the PNPLA3 (rs738409) and TNF-α promoter region G238A polymorphisms with susceptibility to NAFLD and its progression.
基金Supported by the Beijing Municipal Government Commission for Science and Technology, No. H020920020590
文摘AIM： To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-α）, gene promoter and hepatitis B （HB） viral genotypes were associated with outcomes of HBV infection. METHODS： A total of 244 HBV self-limited infected subjects, 208 asymptomatic carriers, and 443 chronic HB patients were recruited to conduct a case-control study. TNF-α -238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）, and HBV genotypes were examined by nested PCR. RESULTS： The positive rate of HBV DNA in asymptomatic carder group and chronic HB group was 46.6% and 49.9%, respectively. HBV genotype proportion among the asymptomatic carriers was 2.1% for genotype A, 25.8% for genotype B, 68.0% for genotype C, and 4.1% for genotype B＋C mixed infection, and 0.9% for genotype A, 21.7% for genotype B, 71.5% for genotype C, 5.9% for genotype B＋C mixed infection in chronic HB group. There was no significant difference in genotype distribution between the asymptomatic carrier group and chronic HB group （X^2 = 1.66, P = 0.647）. The frequency of -238GG genotype in self-limited group was 95.1%, significantly higher than 90.7% in chronic HB group and 89.0% in asymptomatic carrier group （P = 0.041 and P = 0.016, respectively）.The frequency of TNF-α-857 CC in chronic HB group was 79.7%, significantly higher than 64.4% in asymptomatic carrier group and 70.9% in self-limited group （P〈0.001 and P = 0.023, respectively）. A multiple logistic regression analysis revealed that TNF-α-238GA and -857CC were independently associated with chronic HB after gender and age were adjusted.CONCLUSION： TNF-α promoter variants are likely to play a substantial role in the outcome of HBV infection.
基金This work was supported by Beijing Municipal Government Commission for Science & Technology, (No. H020920020590)
文摘Objectives To determine whether -238G/A and -857C/T polymorphisms of tumor necrosis factor-alpha （TNF-o0 gene promoter were associated with outcomes of hepatitis B virus infection. Methods A total of 246 HBV self-limited infected subjects and 443 chronic hepatitis B （HB） patients were recruited in this case-control study. TNF-α-238G/A and -857C/T gene promoter polymorphisms were examined by polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP）. Results The frequency of TNF-α-238 GG （90.7%） in chronic HB group was significantly lower than that （95.1%） in self-limited group （P=0.041）. The frequency of TNF-oc-857 CC （79.7%） in chronic HB patients was significantly higher than that （70.9%） in self-limited infected subjects （P=0.021）. Multiple logistic regression analysis revealed that both TNF-oc-238GA and -857CC were independently associated with chronic HB. Conclusions TNF-α promoter variants are likely to play a substantial role in influencing the outcomes of HBV infection.
基金Supported by the National Basic Research Program of China(973 Program)Grant(No.2007CB512201)the Beijing Municipal Health Bureau Grant(No.2009208).
文摘●AIM:To investigate the association between a set of six candidate genes and the risk of diabetic retinopathy(DR)in an urban community cohort of Chinese patients with type 2 diabetes mellitus(T2 DM).●METHODS:A population-based cross-sectional study.The diabetic subjects were recruited from an urban community in Beijing and categorized into groups of proliferative diabetic retinopathy(PDR),non-proliferative diabetic retinopathy(NPDR),or diabetic without any retinopathy(DWR)based on the fundus photography and duration of diabetes.Six candidate genes,including advanced glycation end product specific receptor(AGER),aldose reductase(AKR1 B1),inducible nitric oxide synthase(i NOS),pigment epithelium derived factor(PEDF),tumor necrosis factor-alpha(TNF-α),and paraoxonase 1(PON1),were chosen based on Meta-analysis of genetic association studies for DR and biochemical pathways implicated in DR progression.The allele and genotype distribution of 21 functional singlenucleotide polymorphisms(SNPs)in those 6 candidate genes were investigated using MassARRAY genotyping system.●RESULTS:Among 1461 diabetic patients recruited from community,569 were selected in following genotyping analysis,including 97 patients with PDR,217 with NPDR,and 255 with DWR.For the promoter variant rs1051993 in AGER gene,the distribution of allele and genotype in PDR group differed from that in DWR group(allele:P=0.011;genotype:P=0.01).Compared with DWR,patients with PDR had lower frequencies of heterozygous genotype GT(9.8%for DWR,1%for PDR,OR:0.10,95%CI:0.01-0.72)and minor allele T(4.9%for DWR,0.5%for PDR,OR:0.10,95%CI:0.01-0.75).In multivariate model,the distribution of genotype for rs1051993 in PDR group was significantly different from that in DWR group(GT vs GG:OR:0.07,95%CI:0.01-0.61,P<0.001).No association with DR was observed in other genotyped SNPs.●CONCLUSION:The data suggest a significant association of the promoter variant rs1051993 in AGER gene with PDR in Chinese cohort with T2DM.
文摘Objective To investigate the relationship between glucokinase regulator protein(GCKR)gene polymorphism rs780094 and hyperuricemia in Uygur in Xinjiang.Methods A case-control study including 1 026 patients with hyperuricemia and 1 030 normal subjects was conducted.All the subjects were genotyped for GCKR
