AIM To investigate the association of NFKB1 gene-94 ATTG insertion/deletion(rs28362491) polymorphism with inflammatory markers and risk of diabetic nephropathy in Asian Indians.METHODS A total of 300 subjects were rec...AIM To investigate the association of NFKB1 gene-94 ATTG insertion/deletion(rs28362491) polymorphism with inflammatory markers and risk of diabetic nephropathy in Asian Indians.METHODS A total of 300 subjects were recruited(100 each), normoglycemic,(NG); type 2 diabetes mellitus(T2DM) without any complications(DM) and T2 DM with diabetic nephropathy [DM-chronic renal disease(CRD)]. Analysis was carried out by polymerase chain reaction-restriction fragment length polymorphism and ELISA. Pearson's correlation, analysis of variance and logistic regression wereused for statistical analysis.RESULTS The allelic frequencies of-94 ATTG insertion/deletion were 0.655/0.345(NG), 0.62/0.38(DM) and 0.775/0.225(DM-CRD). The-94 ATTG ins allele was associated with significantly increased levels of urinary monocyte chemoattractant protein-1(u MCP-1); u MCP-1(P = 0.026) and plasma tumor necrosis factor-alpha(TNF-α); TNF-α(P = 0.030) and almost doubled the risk of diabetic nephropathy(OR = 1.91, 95%CI: 1.080-3.386, P = 0.025).CONCLUSION-94 ATTG ins/ins polymorphism might be associated with increased risk of developing nephropathy in Asian Indian subjects with diabetes mellitus.展开更多
<strong>Aims: </strong>To evaluate the association of Nuclear factor kappa B1(NFkB1) gene polymorphism with inflammatory markers Urinary Monocyte Chemoattractant Protein 1 (UMCP1) and Tumor Necrosis Factor...<strong>Aims: </strong>To evaluate the association of Nuclear factor kappa B1(NFkB1) gene polymorphism with inflammatory markers Urinary Monocyte Chemoattractant Protein 1 (UMCP1) and Tumor Necrosis Factor alfa (TNF alfa) in Patients of diabetes mellitus with or without renal involvement in Eastern India. <strong>Material and Methods: </strong>Consecutive Patients of Type 2 Diabetes Mellitus (DM) with or without microalbuminuria attending SCB MEDICAL COLLEGE and HOSPITAL Medical OPDs in between September 2018 to September 2019 were recruited in this study. Patients were subjected to blood and urine investigations. DNA extraction and Restriction fragment Length Polymorphism (RFLP) was done in Department of Biochemistry. Controls were unrelated healthy attendants with no history of Diabetes Mellitus, HTN, Chronic Kidney Disease (CKD). <strong>Results:</strong> Mean Systolic BP, Fasting Blood Glucose, Post Prandial Blood Glucose, HBA1c, Total Cholesterol were significantly higher in diabetes mellitus and diabetic nephropathy groups than control group. Estimated Glomerular Filtration Rate was significantly lower in diabetic nephropathy (p value < 0.001). UMCP1, Urinary Albumin Creatinine Ratio, TNF alfa were higher in diabetes mellitus and nephropathy with p value (<0.001, 0.006 < 0.001) respectively. In between DM and Diabetic Nephropathy groups nfkb1 gene expression, umcp1 and tnf alfa levels were significantly increased in Diabetic nephropathy with p value 0.019, <0.01, 0.001 respectively. Insertion/insertion NFkB1 gene polymorphisms were more in diabetic nephropathy group and were positively correlated with inflammatory markers UMCP1 (r = 0.517, p < 0.01) and TNF alfa (r = 0.172, p = 0.19). <strong>Conclusion:</strong> insertion/insertion NFkB1 gene polymorphism increases the risk of nephropathy by 2.52 times (OR = 2.52, 95% CI: 0.04 - 0.63, p value = 0.019) in diabetes patients in eastern India.展开更多
Objective. The nuclear factor(NF)-κB is one of the pivotal regulators of autoimmunity and inflammation, which has been shown to be activated in the inflamed mucosa of patients with celiac disease(CD). Recently, in th...Objective. The nuclear factor(NF)-κB is one of the pivotal regulators of autoimmunity and inflammation, which has been shown to be activated in the inflamed mucosa of patients with celiac disease(CD). Recently, in the NFKB1 gene promoter region, a common insertion/deletion(-94ins/ delATTG) polymorphism located between two putative key promoter regulatory elements was described. The aim of this study was to investigate the contribution of the -94ins/ delATTG NFKB1 gene promoter functional variant to CD genetic predisposition. Material and methods. A case-control cohort comprising 478 patients with CD and 711 healthy controls as well as a panel of 196 celiac families was genotyped for the 94ins/delATTG NFKB1 polymorphism, using a polymerase chain reaction (PCR) method combined with fluorescence technology. Results. We found no statistically significant differences between CD patients and controls when the -94ins/delATTG genotype and allele distributions were compared. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of -94ins/delATTG alleles to the affected offspring. Conclusions. From these results, it could be suggested that the -94ins/delATTG NFKB1 polymorphism does not play a major role in CD susceptibility.展开更多
AIM:To clarify the association between a polymorphism-449 C>G(rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis(UC).METHODS:The studied population comprised 639 subjects,including patients with UC(UC cases...AIM:To clarify the association between a polymorphism-449 C>G(rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis(UC).METHODS:The studied population comprised 639 subjects,including patients with UC(UC cases,n = 174) and subjects without UC(controls,n = 465).We employed polymerase chain reaction-single strand conformation polymorphism to detect the gene polymorphism.RESULTS:The rs72696119 G allele frequencies in controls and UC cases were 33.4% and 38.5%,respectively(P = 0.10).Genotype frequency of the GG homozygote in UC cases was significantly higher than that in controls(P = 0.017),and the GG homozygote was significantly associated with susceptibility to UC [odds ratio(OR),1.88;95%CI,1.13-3.14].In male subjects,the GG homozygote was associated with an increased risk for UC(OR,3.10;95%CI,1.47-6.54;P = 0.0053),whereas this association was not found in female subjects.In addition,the GG homozygote was significantly associated with the risk of non-continuous disease(OR,2.06;95%CI,1.12-3.79;P = 0.029),not having total colitis(OR,2.40;95%CI,1.09-3.80,P = 0.040),disease which developed before 20 years of age(OR,2.80;95%CI,1.07-7.32,P = 0.041),no hospitalization(OR,2.28;95%CI,1.29-4.05;P = 0.0090) and with a maximum of 8 or less on the UCDAI score(OR,2.45;95%CI,1.23-4.93;P = 0.022).CONCLUSION:Our results provide evidence that NFKB1 polymorphism rs72696119 was significantly associated with the development of UC.This polymorphism influences the susceptibility to and pathophysiological features of UC.展开更多
AIM To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease(IBD) risk among Moroccan patients. METHODS The distribution of(TAAA)n_rs12720460 and(CCTTT)n_rs3833912 NOS...AIM To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease(IBD) risk among Moroccan patients. METHODS The distribution of(TAAA)n_rs12720460 and(CCTTT)n_rs3833912 NOS2 A microsatellite repeats, HIF-1 A_rs11549467 and NFKB1-94 ins/delA TTG_rs28362491 was analyzed in 507 subjects grouped in 199 IBD and 308 healthy controls. Genotyping was performed withpolymerase chain reaction-fluorescent method and the TaqMan~? allelic discrimination technology.RESULTS The allele and genotype frequencies of HIF1 A_ rs11549467, NFKB1_rs28362491 and NOS2 A_(TAAA)n did not differ significantly between patients and controls. Analysis of NOS2 A_(CCTTT)n markers evidenced differences between patients and healthy controls. A preferential presence of the(CCTTT)8(P = 0.02; OR = 1.71, 95%CI: 1.07-2.74),(CCTTT)14(P = 0.02; OR = 1.71, 95%CI: 1.06-2.76) alleles in IBD,(CCTTT)8(P = 0.008; OR = 1.95, 95%CI: 1.17-3.23) in CD and(CCTTT)7(P = 0.009; OR = 7.61, 95%CI: 1.25-46.08),(CCTTT)11(P = 0.05; OR = 0.51, 95%CI: 0.25-1.01),(CCTTT)14(P = 0.02; OR = 2.05, 95%CI: 1.07-3.94),(CCTTT)15(P = 0.01; OR = 2.25, 95%CI: 1.16-4.35) repeats in UC patients indicated its possible association with higher disease risk which need to be confirmed in a larger sample size. CONCLUSION Our results suggest that the NOS2 A_(CCTTT)n gene variations may influence IBD susceptibility in the Moroccan population.展开更多
目的系统评价NFKB1基因rs4648127、rs28362491位点和NFKBIA基因rs696位点多态性与肺癌易感性的关联性。方法计算机检索Web of Science、PubMed、VIP、CNKI和WanFang Data数据库,搜集有关NFKB1和NFKBIA基因多态性与肺癌发生相关性的病例...目的系统评价NFKB1基因rs4648127、rs28362491位点和NFKBIA基因rs696位点多态性与肺癌易感性的关联性。方法计算机检索Web of Science、PubMed、VIP、CNKI和WanFang Data数据库,搜集有关NFKB1和NFKBIA基因多态性与肺癌发生相关性的病例-对照研究,检索时限均为建库至2018年11月。由2名研究者独立筛选文献、提取资料并评价纳入研究的偏倚风险后,采用Stata 12.0软件进行Meta分析。结果最终纳入7个病例-对照研究。Meta分析结果显示,NFKB1基因rs4648127多态性和肺癌易感性无相关性[C vs. T:OR=1.065,95%CI(0.323,3.512),P=0.918]。但医院人群rs28362491多态性[D vs. I:OR=1.290,95%CI(1.117,1.489),P=0.001;DD vs. II:OR=1.707,95%CI(1.273,2.289),P<0.001;DD vs. ID+II:OR=1.409,95%CI(1.100,1.806),P=0.008]与肺癌易感性呈正相关。NFKBIA基因rs696多态性[A vs. G:OR=1.215,95%CI(1.105,1.336),P<0.001;AA vs. GG:OR=1.438,95%CI(1.194,1.731),P<0.001;GG vs. AG+AA:OR=1.566,95%CI(1.341,1.829),P<0.001]与肺癌易感性正相关。结论当前证据显示,NFKB1基因rs4648127多态性可能与肺癌发生无关联;医院人群的NFKB1基因rs28362491多态性和NFKBIA基因rs696多态性可能与肺癌发生呈正相关。受纳入研究数量和质量的限制,上述结论尚待更多高质量研究予以验证。展开更多
基金supported by Indian Council of Medical Research and Postgraduate Research Grant, University College of Medical Sciences, New Delhi
文摘AIM To investigate the association of NFKB1 gene-94 ATTG insertion/deletion(rs28362491) polymorphism with inflammatory markers and risk of diabetic nephropathy in Asian Indians.METHODS A total of 300 subjects were recruited(100 each), normoglycemic,(NG); type 2 diabetes mellitus(T2DM) without any complications(DM) and T2 DM with diabetic nephropathy [DM-chronic renal disease(CRD)]. Analysis was carried out by polymerase chain reaction-restriction fragment length polymorphism and ELISA. Pearson's correlation, analysis of variance and logistic regression wereused for statistical analysis.RESULTS The allelic frequencies of-94 ATTG insertion/deletion were 0.655/0.345(NG), 0.62/0.38(DM) and 0.775/0.225(DM-CRD). The-94 ATTG ins allele was associated with significantly increased levels of urinary monocyte chemoattractant protein-1(u MCP-1); u MCP-1(P = 0.026) and plasma tumor necrosis factor-alpha(TNF-α); TNF-α(P = 0.030) and almost doubled the risk of diabetic nephropathy(OR = 1.91, 95%CI: 1.080-3.386, P = 0.025).CONCLUSION-94 ATTG ins/ins polymorphism might be associated with increased risk of developing nephropathy in Asian Indian subjects with diabetes mellitus.
文摘<strong>Aims: </strong>To evaluate the association of Nuclear factor kappa B1(NFkB1) gene polymorphism with inflammatory markers Urinary Monocyte Chemoattractant Protein 1 (UMCP1) and Tumor Necrosis Factor alfa (TNF alfa) in Patients of diabetes mellitus with or without renal involvement in Eastern India. <strong>Material and Methods: </strong>Consecutive Patients of Type 2 Diabetes Mellitus (DM) with or without microalbuminuria attending SCB MEDICAL COLLEGE and HOSPITAL Medical OPDs in between September 2018 to September 2019 were recruited in this study. Patients were subjected to blood and urine investigations. DNA extraction and Restriction fragment Length Polymorphism (RFLP) was done in Department of Biochemistry. Controls were unrelated healthy attendants with no history of Diabetes Mellitus, HTN, Chronic Kidney Disease (CKD). <strong>Results:</strong> Mean Systolic BP, Fasting Blood Glucose, Post Prandial Blood Glucose, HBA1c, Total Cholesterol were significantly higher in diabetes mellitus and diabetic nephropathy groups than control group. Estimated Glomerular Filtration Rate was significantly lower in diabetic nephropathy (p value < 0.001). UMCP1, Urinary Albumin Creatinine Ratio, TNF alfa were higher in diabetes mellitus and nephropathy with p value (<0.001, 0.006 < 0.001) respectively. In between DM and Diabetic Nephropathy groups nfkb1 gene expression, umcp1 and tnf alfa levels were significantly increased in Diabetic nephropathy with p value 0.019, <0.01, 0.001 respectively. Insertion/insertion NFkB1 gene polymorphisms were more in diabetic nephropathy group and were positively correlated with inflammatory markers UMCP1 (r = 0.517, p < 0.01) and TNF alfa (r = 0.172, p = 0.19). <strong>Conclusion:</strong> insertion/insertion NFkB1 gene polymorphism increases the risk of nephropathy by 2.52 times (OR = 2.52, 95% CI: 0.04 - 0.63, p value = 0.019) in diabetes patients in eastern India.
文摘Objective. The nuclear factor(NF)-κB is one of the pivotal regulators of autoimmunity and inflammation, which has been shown to be activated in the inflamed mucosa of patients with celiac disease(CD). Recently, in the NFKB1 gene promoter region, a common insertion/deletion(-94ins/ delATTG) polymorphism located between two putative key promoter regulatory elements was described. The aim of this study was to investigate the contribution of the -94ins/ delATTG NFKB1 gene promoter functional variant to CD genetic predisposition. Material and methods. A case-control cohort comprising 478 patients with CD and 711 healthy controls as well as a panel of 196 celiac families was genotyped for the 94ins/delATTG NFKB1 polymorphism, using a polymerase chain reaction (PCR) method combined with fluorescence technology. Results. We found no statistically significant differences between CD patients and controls when the -94ins/delATTG genotype and allele distributions were compared. Accordingly, the familial analysis did not reach statistically significant deviation in the transmission of -94ins/delATTG alleles to the affected offspring. Conclusions. From these results, it could be suggested that the -94ins/delATTG NFKB1 polymorphism does not play a major role in CD susceptibility.
基金Supported by Grant for Specially Promoted Research from Kanazawa Medical University(SR2012-01)
文摘AIM:To clarify the association between a polymorphism-449 C>G(rs72696119) in 5'-UTR of NFKB1 with ulcerative colitis(UC).METHODS:The studied population comprised 639 subjects,including patients with UC(UC cases,n = 174) and subjects without UC(controls,n = 465).We employed polymerase chain reaction-single strand conformation polymorphism to detect the gene polymorphism.RESULTS:The rs72696119 G allele frequencies in controls and UC cases were 33.4% and 38.5%,respectively(P = 0.10).Genotype frequency of the GG homozygote in UC cases was significantly higher than that in controls(P = 0.017),and the GG homozygote was significantly associated with susceptibility to UC [odds ratio(OR),1.88;95%CI,1.13-3.14].In male subjects,the GG homozygote was associated with an increased risk for UC(OR,3.10;95%CI,1.47-6.54;P = 0.0053),whereas this association was not found in female subjects.In addition,the GG homozygote was significantly associated with the risk of non-continuous disease(OR,2.06;95%CI,1.12-3.79;P = 0.029),not having total colitis(OR,2.40;95%CI,1.09-3.80,P = 0.040),disease which developed before 20 years of age(OR,2.80;95%CI,1.07-7.32,P = 0.041),no hospitalization(OR,2.28;95%CI,1.29-4.05;P = 0.0090) and with a maximum of 8 or less on the UCDAI score(OR,2.45;95%CI,1.23-4.93;P = 0.022).CONCLUSION:Our results provide evidence that NFKB1 polymorphism rs72696119 was significantly associated with the development of UC.This polymorphism influences the susceptibility to and pathophysiological features of UC.
文摘AIM To investigate whether common variants in the oxidative pathway genes influence inflammatory bowel disease(IBD) risk among Moroccan patients. METHODS The distribution of(TAAA)n_rs12720460 and(CCTTT)n_rs3833912 NOS2 A microsatellite repeats, HIF-1 A_rs11549467 and NFKB1-94 ins/delA TTG_rs28362491 was analyzed in 507 subjects grouped in 199 IBD and 308 healthy controls. Genotyping was performed withpolymerase chain reaction-fluorescent method and the TaqMan~? allelic discrimination technology.RESULTS The allele and genotype frequencies of HIF1 A_ rs11549467, NFKB1_rs28362491 and NOS2 A_(TAAA)n did not differ significantly between patients and controls. Analysis of NOS2 A_(CCTTT)n markers evidenced differences between patients and healthy controls. A preferential presence of the(CCTTT)8(P = 0.02; OR = 1.71, 95%CI: 1.07-2.74),(CCTTT)14(P = 0.02; OR = 1.71, 95%CI: 1.06-2.76) alleles in IBD,(CCTTT)8(P = 0.008; OR = 1.95, 95%CI: 1.17-3.23) in CD and(CCTTT)7(P = 0.009; OR = 7.61, 95%CI: 1.25-46.08),(CCTTT)11(P = 0.05; OR = 0.51, 95%CI: 0.25-1.01),(CCTTT)14(P = 0.02; OR = 2.05, 95%CI: 1.07-3.94),(CCTTT)15(P = 0.01; OR = 2.25, 95%CI: 1.16-4.35) repeats in UC patients indicated its possible association with higher disease risk which need to be confirmed in a larger sample size. CONCLUSION Our results suggest that the NOS2 A_(CCTTT)n gene variations may influence IBD susceptibility in the Moroccan population.
文摘目的系统评价NFKB1基因rs4648127、rs28362491位点和NFKBIA基因rs696位点多态性与肺癌易感性的关联性。方法计算机检索Web of Science、PubMed、VIP、CNKI和WanFang Data数据库,搜集有关NFKB1和NFKBIA基因多态性与肺癌发生相关性的病例-对照研究,检索时限均为建库至2018年11月。由2名研究者独立筛选文献、提取资料并评价纳入研究的偏倚风险后,采用Stata 12.0软件进行Meta分析。结果最终纳入7个病例-对照研究。Meta分析结果显示,NFKB1基因rs4648127多态性和肺癌易感性无相关性[C vs. T:OR=1.065,95%CI(0.323,3.512),P=0.918]。但医院人群rs28362491多态性[D vs. I:OR=1.290,95%CI(1.117,1.489),P=0.001;DD vs. II:OR=1.707,95%CI(1.273,2.289),P<0.001;DD vs. ID+II:OR=1.409,95%CI(1.100,1.806),P=0.008]与肺癌易感性呈正相关。NFKBIA基因rs696多态性[A vs. G:OR=1.215,95%CI(1.105,1.336),P<0.001;AA vs. GG:OR=1.438,95%CI(1.194,1.731),P<0.001;GG vs. AG+AA:OR=1.566,95%CI(1.341,1.829),P<0.001]与肺癌易感性正相关。结论当前证据显示,NFKB1基因rs4648127多态性可能与肺癌发生无关联;医院人群的NFKB1基因rs28362491多态性和NFKBIA基因rs696多态性可能与肺癌发生呈正相关。受纳入研究数量和质量的限制,上述结论尚待更多高质量研究予以验证。
