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At least 685 records · Page 38Linked to original sources
PubMed2005

IL-10 promoter gene polymorphism associated with the occurrence of chronic GVHD and its clinical course during systemic immunosuppressive treatment for chronic GVHD after allogeneic peripheral blood stem cell transplantation.

BACKGROUND: The current study attempted to evaluate the association between IL-10 promoter gene polymorphism and transplant outcomes including the occurrence of chronic graft-versus-host disease (GVHD) and its clinical course during systemic immunosuppressive treatment (IST) among 60 recipients of cytokine-mobilized peripheral blood stem cell (PBSC) from HLA-matched sibling donors. METHODS: We analyzed 3 single-nucleotide polymorphisms in proximal region of IL-10 promoter gene (-1082/-819/-592). RESULTS: In the current study, only two haplotypes (1082*A/819*T/592*A [ATA] and 1082*A/819*C/592*C [ACC]) were found. An increased occurrence of chronic GVHD was noted dependent on the IL-10 haplotypes (43% vs. 68% vs. 96% in ACC/ACC vs. ATA/ACC vs. ATA/ATA haplotype, P=0.003). In a logistic regression based on multinomial model, ATA/ATA homozygote had 7-fold increasing risk of the development of chronic GVHD compared with ACC/ACC homozygote. The incidence of chronic GVHD at 1 year was 46%+/-20%, 64%+/-10%, and 82%+/-5% in ACC/ACC, ATA/ACC and ATA/ATA group, respectively (P=0.0266). Plus, the duration of systemic IST was significantly shorter in recipients without ATA-haplotype comparing with those with ATA haplotype (339 days vs. 1,146 days, P=0.0091). CONCLUSION: IL-10 promoter gene polymorphism was found to be apparently associated with chronic GVHD after allogeneic peripheral blood stem cell transplantation from HLA-matched sibling donors.

Adolescent↗
PubMed1999

Association of Trp64Arg beta 3-adrenergic-receptor gene polymorphism with essential hypertension in the Sardinian population.

OBJECTIVE: To evaluate the possible association of three candidate gene polymorphisms with essential hypertension in the genetically homogeneous Sardinian population. SUBJECTS AND METHODS: We studied 494 unrelated, nondiabetic subjects, 213 (43.2%) with essential hypertension. All subjects underwent a 75 g oral glucose tolerance test with determination of glycemia and insulinemia and serum lipids. The polymorphisms evaluated comprised Trp64Arg of the beta 3-adrenergic receptor, Gly40Ser of the glucagon receptor gene and the insertion/deletion polymorphism of the angiotensin converting enzyme (ACE) gene. RESULTS: Among the overall population studied, 48 (9.7%) were heterozygous carriers of the Trp64Arg polymorphism. The frequency of the Trp64Arg variant was significantly higher in hypertensives (13.6%) than normotensives (6.8%; chi 2 5.73, P = 0.017). The 48 subjects with the Trp64Arg variant had significantly higher (P < 0.049) serum triglyceride levels than the 446 with the Trp64Trp variant, while no significant differences were observed, either fasting or during the 75 g oral glucose tolerance test, in glycemia and insulinemia. No differences were found between hypertensive and normotensive subjects for ACE gene insertion/deletion polymorphism nor in the frequency of the Gly40Ser coding change in exon 2 of the glucagon receptor gene. CONCLUSIONS: Our results are consistent with the thesis that the Trp64Arg polymorphism of the beta 3-adrenergic receptor gene is associated more often with the condition of high blood pressure than with normal blood pressure.

Alleles↗
PubMed2004

Significant association of the interleukin-6 gene polymorphisms C-174G and A-598G with type 2 diabetes.

Elevated blood concentrations of IL-6 have been shown to predict type 2 diabetes. Because the impact of IL-6 gene polymorphisms on diabetes status, parameters of the metabolic syndrome, and low-grade systemic inflammation has not been analyzed in a population-based study, we investigated the association of the IL-6 single nucleotide polymorphisms C-174G and A-598G on these parameters in 704 elderly participants of the Kooperative Gesundheitsforschung im Raum Augsburg/Cooperative Research in the Region of Augsburg (KORA) Survey 2000. Both -174G and -598G alleles were significantly associated with type 2 diabetes (-174G: odds ratio = 1.51, 95% confidence interval = 1.11-2.07, P = 0.0096; -598G: odds ratio = 1.56, 95% confidence interval = 1.13-2.15, P = 0.0069) but not with impaired glucose tolerance. In subgroup analyses, the association reached statistical significance in men and in leaner subjects (body mass index <or= 28.7 kg/m(2), i.e. study median) but not in women or more obese persons. Circulating IL-6 levels were not associated with the IL-6 polymorphisms, but significantly elevated levels of the chemokine monocyte chemoattractant protein-1/CC chemokine ligand 2 in carriers of the protective genotypes indicated an indirect effect of these single nucleotide polymorphisms on the innate immune system. Our findings confirm that immune gene polymorphisms can be considered as independent risk factors in the etiology of type 2 diabetes and suggest that their contribution may be indirect, by influencing the levels of other immune mediators like monocyte chemoattractant protein-1.

Adult↗
PubMed2000

TNF gene polymorphism and its relation to intracerebral production of TNFalpha and TNFbeta in AD.

OBJECTIVE: To analyze the extent of tumor necrosis factor-alpha (TNFalpha) and TNFbeta gene polymorphism in patients with AD and to relate it to intrathecal levels of these cytokines. METHODS: Analyses of TNFalpha and TNFbeta gene polymorphism were performed using PCR in 52 patients with AD and in 25 control subjects, and the levels of corresponding cytokines were analyzed using ELISA. RESULTS: Patients with AD displayed significantly higher intrathecal levels of TNFalpha, but not TNFbeta, compared with the control subjects. The levels of these cytokines did not differ significantly in patients displaying different alleles of the TNF gene. CONCLUSIONS: Results indicate that increased intrathecal production of TNFalpha in AD is preferentially controlled by environmental stimuli rather than genetic makeup.

Aged↗
PubMed1999

Gene-polymorphisms of angiotensin converting enzyme and endothelial nitric oxide synthase in patients with erectile dysfunction.

AIMS OF THE STUDY: Regulation of the penile smooth muscle tone and contractility is closely related to the activity of vasoactive substances, angiotensin II or nitric oxide. We investigated the relationship between gene polymorphism in the angiotensin converting enzyme (ACE) or endothelial nitric oxide synthase (ecNOS) and development of erectile dysfunction. METHODS: In 84 subjects with organic erectile dysfunction and 63 control subjects, gene polymorphisms in the ACE and ecNOS were determined by the polymerase chain reaction (PCR). RESULTS: The DD genotype of ACE was significantly (P < 0.01) more frequent in subjects with organic erectile dysfunction (54%) than in control subjects (24%). There was no significant difference in the distribution of the genotypes of ecNOS. CONCLUSION: The deletion polymorphism in the ACE gene, the DD genotype, as a marker of general vascular disease, may be seen more frequently in men with a diagnosis of vasculogenic erectile dysfunction.

Adult↗
PubMed2003

[A case-control study on the vitamin D receptor gene polymorphisms and susceptibility to pulmonary tuberculosis].

OBJECTIVE: To investigate the association between the genetic polymorphisms of VDR gene and susceptibility to pulmonary tuberculosis. METHODS: Case-control study was conducted. PCR-RFLP technique was used to detect the C/T polymorphism in VDR gene. Information on related factors of tuberculosis was collected using a pre-tested questionnaire. Univariate and multivariate logistic analyses were conducted with SPSS software package. RESULTS: A sample of 76 cases and 171 controls was studied. The genotype frequencies of VDR-FF, VDR-Ff and VDR-ff were 38.2%, 44.7%, 17.1% and 52.6%, 40.9%, 6.4% respectively. VDR-ff was significantly overrepresented in case group, the OR (95% CI) was 3.668 (1.483 - 9.071) when comparing with FF genotype. The significant association remained after adjusting BCG immunization and smoking, the OR (95% CI) was 3.036 (1.117 - 8.253). CONCLUSION: The VDR-ff genotype might be associated with the susceptibility to pulmonary tuberculosis in Chinese Han population.

Adolescent↗
PubMed2002

Significance of catechol-O-methyltransferase gene polymorphism in fibromyalgia syndrome.

Fibromyalgia syndrome (FS) is associated with a neuroendocrinal disorder characterized by abnormal function of the hypothalamic-pituitary-adrenal (HPA) axis, including hyperactive adrenocorticotropic hormone (ACTH) release and adrenal hyporesponsiveness. Catechol-O-methyltransferase (COMT) enzyme inactivates catecholamines and catecholamine-containing drugs. Polymorphism in the gene encodes for the COMT enzyme. For this study, the significance of COMT polymorphism was assessed in FS. There were three polymorphisms of the COMT gene: LL, LH, and HH. The analysis of COMT polymorphism was performed using polymerase chain reaction (PCR). Sixty-one patients with FS and 61 healthy volunteers were included in the study. Although no significant difference was found between LL and LH separately, the LL and LH genotypes together were more highly represented in patients than controls ( P=0.024). In addition, HH genotypes in patients were significantly lower than in the control groups ( P=0.04). There was no significant difference between COMT polymorphism and psychiatric status of the patients as assessed by several psychiatric tests ( P>0.05). In conclusion, COMT polymorphism is of potential pharmacological importance regarding individual differences in the metabolism of catechol drugs and may also be involved in the pathogenesis and treatment of FS through adrenergic mechanisms as well as genetic predisposition to FS.

Adult↗
PubMed2005

Impact of excess weight and estrogen receptor gene polymorphisms on clinical course of homozygous beta thalassemia.

In homozygous beta thalassemic patients we examined the role played by the interaction of ER gene polymorphisms with adverse environmental factors. A total of 108 homozygous beta thalassemic patients, 60 prepubertal mean age 9,5 +/- 3,7 years (27 M, 33 F) and 48 pubertal mean age 22,2 +/- 5,4 years (21 M, 27 F), regularly treated with red cell transfusion and iron chelation therapy were segregated on the basis of their XbaI and PvuII ER gene polymorphisms. Body mass index (BMI), lipidic pattern and blood pressure values were evaluated in each group. No significant differences were observed between patients segregated by their PvuII ER genotypes. Prepubertal and pubertal patients of both sexes lacking XbaI site showed BMI, HDL, LDL cholesterol significantly different than the other patients. In addition, triglyceride levels and blood pressure values were significantly higher in pubertal patients of both sexes lacking XbaI site than in other patients. ER XbaI polymorphism appear to influence nutritional factors, metabolic status and blood pressure and could be considered additional risk factors for later cardiac involvement in beta thalassemic patients.

Adolescent↗
PubMed2002

Influence of angiotensinogen M253T gene polymorphism and an angiotensin converting enzyme inhibitor on restenosis after percutaneous coronary intervention.

We studied the relation between renin-angiotensin system (RAS) related gene polymorphisms, such as angiotensin converting enzyme (ACE) insertion/deletion (I/D), angiotensinogen (AGT) M253T and angiotensin II type 1 receptor (AT1R) A1166C, and the effect of quinapril, an ACE inhibitor with high tissue-binding affinity, on preventing restenosis after percutaneous coronary intervention (PCI). A total of 253 patients successfully treated for coronary artery disease were randomly assigned to quinapril or control. Of the 215 patients who completed the follow-up, we determined gene polymorphisms in 204 patients with 241 lesions who provided blood samples for genotype determination. In the control, the ACE D homozygotes showed a smaller minimal lumen diameter (MLD) at follow-up (P=0.063). The other two genotypes of AGT and AT1R did not affect restenosis after PCI. According to quinapril treatment, the AGT T homozygotes significantly showed a beneficial effect of quinapril on MLD (P=0.013) and late lumen loss (P=0.013). The ACE I homozygotes also exhibited beneficial effects of quinapril on larger MLD (P=0.065). The AT1R genotype did not influence the quinapril effect. In conclusion, the AGT T homozygotes might benefit from effects of quinapril on preventing restenosis after PCI.

Angioplasty, Balloon, Coronary↗
PubMed2001

The association study of DRD2, ACE and AGT gene polymorphisms and metamphetamine dependence.

We investigated the association between metamphetamine dependence and TaqI A polymorphism of the dopamine receptor D2 gene (DRD2), I/D polymorphism in angiotensin-converting enzyme (ACE) and M235T polymorphism of the angiotensinogen gene (AGT) in 93 unrelated metamphetamine-dependent subjects and 131 controls. Our results did not prove any association of TaqI A polymorphism of the DRD2 gene, I/D polymorphism of ACE gene, and M235T polymorphism of AGT gene with the metamphetamine dependence in Caucasians of Czech origin. However, a significant difference in allele I frequency between male and female control groups for the I/D ACE polymorphism (p<0.03) was found.

Adult↗
PubMed2004

CD14 C(-260)T gene polymorphism, circulating soluble CD14 levels and arteriosclerosis.

BACKGROUND: CD14 pathway is at the crossroads between infection and inflammation. In human pathology, divergent results have been reported on the relationship between a polymorphism in the promoter of receptor CD14 (C260T), expression of soluble CD14 (sCD14) receptor and atherosclerosis. The aim of the study was to investigate in a cross-sectional population-based sample the relationships between C260T polymorphism in CD14 gene, sCD14 blood levels and arterial wall. METHODS: Among 1015 subjects, randomly recruited by the Toulouse MONICA center between 1995 and 1997, 899 subjects with complete data for all the measurements, were analyzed. sCD14 was measured using an immuno-enzymatic method. Common carotid intima-media thickness (IMT) and the presence of plaques in the carotid and femoral arteries were assessed by ultrasonography. A genotypic examination for the CD14 C260T polymorphism was performed. RESULTS: An increase in sCD14 expression was observed in subjects carrying t allele (P < 0.01). No significant difference in intima-media thickness, number of plaques and pulse wave velocity was noticed according to C260T polymorphism. An interaction (P < 0.05) was observed between C260T polymorphism and current smoking in sCD14 expression: among smokers, no significant change in sCD14 was observed in individuals carrying t allele. CONCLUSION: Although (C260T) polymorphism in CD14 gene in this study is associated with expression of sCD14, no significant association was found between this polymorphism and early markers of atherosclerosis. This polymorphism affects plasma levels of sCD14 in relation to current smoking status. Further studies are needed to determine whether this interaction influences the deleterious effect of smoking on vascular events.

Adult↗
PubMed2005

Influence of cytokine and ICAM-1 gene polymorphisms on susceptibility to chronic pancreatitis.

AIMS: To test the hypothesis that single nucleotide polymorphisms (SNPs) within genes (or their promoter regions) encoding cytokines, growth factors, and intercellular adhesion molecules modulate the risk of development of chronic pancreatitis (CP). METHODS: DNA was extracted from peripheral blood leucocytes or formalin fixed, paraffin wax embedded tissue from 53 patients with CP and 266 healthy controls. SNPs within the interleukin 1beta (IL-1beta), IL-6, IL-8, tumour necrosis factor alpha (TNFalpha) and vascular endothelial growth factor (VEGF) gene promoter regions and the transforming growth factor beta1 (TGFbeta1) and intercellular cell adhesion molecule 1 (ICAM-1) genes were genotyped by the amplification refractory mutation system polymerase chain reaction or 5' nuclease (Taqman) techniques. Patient-control comparisons were made using 2 x 2 contingency tables and chi2 analyses. RESULTS: A non-significant decrease in the frequency of the IL-8 -251 AA genotype and a non-significant increase in the frequency of the ICAM-1 +469 GA genotype was seen in patients compared with controls. No associations were identified between SNPs in the promoter regions of the IL-1beta, IL-6, or TNFalpha proinflammatory cytokines genes or the TGFbeta1 and VEGF genes and susceptibility to CP. CONCLUSIONS: This preliminary study suggests that genetic polymorphism within several cytokine genes is unlikely to influence susceptibility to CP, but the possible role of IL-8 and ICAM-1 polymorphisms in the development of this disease requires further investigation.

Adolescent↗
PubMed2004

Normal tension glaucoma is not associated with the common apolipoprotein E gene polymorphisms.

BACKGROUND: /aims: In normal tension glaucoma (NTG) factors other than raised intraocular pressure have a role in the pathogenesis of the optic neuropathy. Because particular apolipoprotein E (ApoE) gene polymorphisms have been associated with cell death and survival in neurological degenerative diseases, the purpose of this study was to determine the ApoE allele frequencies in patients with normal tension glaucoma. METHODS: The apolipoprotein E genotype of 155 patients with normal tension glaucoma was compared to that of 349 non-affected, control subjects from the same geographical area. A similar comparison was made between 53 patients with normal tension glaucoma who demonstrated progressive visual field loss, and control subjects. The frequencies of genotypes was compared with the chi(2) test and Mantel-Haenszel coefficent. RESULTS: There was no significant difference in the frequency of ApoE alleles or genotypes in the normal tension glaucoma population compared to the control group. The ApoE alleles and genotypes in NTG patients with progressive disease were not different from the control group. CONCLUSION: ApoE gene polymorphisms are not linked to normal tension glaucoma, suggesting that this gene does not have a role in the pathogenesis of optic neuropathy in this disease.

Adult↗
PubMed2005

-238 and +489 TNF-alpha along with TNF-RII gene polymorphisms associate with the diffuse phenotype in patients with Systemic Sclerosis.

OBJECTIVE: To investigate possible associations of TNF-alpha and TNF-RII gene polymorphisms with diffuse or limited skin involvement phenotype in a cohort of Systemic Sclerosis (SSc) patients. METHODS: One-hundred and fourteen consecutive SSc patients attending the referral centres of three academic hospitals in Italy (University of Naples, Pavia and Udine), 56 with the diffuse (dcSSc) and 58 with limited (lcSSc) skin involvement subsets, and 170 healthy blood donors (HBDs) were included in the study. The extracted DNA was genotyped for the following polymorphisms: TNF-alpha (-238, +489) and TNF-RII (+196), using the polymerase chain reaction (PCR) and the restriction enzymes BamHI, HpyCH4 IV and NlaIII, respectively. RESULTS: The AG/AA (presence of allele A) genotypes in position -238 and the AG genotype in position +489 of the TNF-alpha gene were found significantly increased in SSc, as a whole, when compared with healthy blood donors (chi(nu=2)(2)=4.48, p=0.03 for -238 and chi(nu=2)(2)=7.82, p=0.02 for +489, respectively). The rare GG genotype in exon 6 (codon 196) of the TNF-RII gene was also found increased in SSc compared to HBDs, even though the difference did not show statistical significance (chi(nu=2)(2)=3.56, p=0.17). The strength of the association was mainly due to the dcSSc phenotype (Fisher test, p=0.04 for -238, chi(nu=2)(2)=10.07, p<0.01 for +489 and chi(nu=2)(2)=6.25, p=0.04 for the +196 TNF-RII, respectively). CONCLUSIONS: TNF-alpha and TNF-RII gene polymorphisms seem to contribute to the development of SSc and in particular to the diffuse phenotype.

Autoantibodies↗
PubMed2002

[Association of PON2 gene polymorphisms in neonates with preterm].

Branch of Institute for Biomedicine,Anhui Medical University,Anqing 246000,China Abstract:The objective is to investigate whether gene polymorphisms in the PON2 gene (PON2148 and PON2311) of neonates are associated with preterm. Using standard questionnaires,194 singleton live born mother-neonate pairs (include preterm cases and term controls) were investigated by the trained field workers with cross-sectional survey at the hospitals in Anqing,Anhui Province,China. Epidemiological and clinical data and blood samples were obtained from 194 mother-neonate pairs. Among neonates,PON2 Ala148Ala homozygote is significantly associated with preterm,compared with Gly148Gly homozygote / Ala148Gly heterozygote before and after adjustment confounders and the same was true for PON2 Ser311Ser homozygote. However,when PON2148 polymorphism and PON2311 polymorphism were considered jointly,no significant gene interaction between PON2148 polymorphism and PON2311 polymorphism in relation to preterm was observed. We draw a conclusion from this research that both PON2148 polymorphism and PON2311 polymorphism in neonates are significantly associated with preterm respectively. But the gene interactions between PON2148 polymorphism and PON2311 polymorphism in neonates are not significantly associated with preterm.

English Abstract↗
PubMed2004

[Relationship between gene polymorphism at CETP locus and hyperlipidemia in the middle-aged and the elder].

OBJECTIVE: The relationship between gene polymorphism at CETP locus and hyperlipidemia was examined in a 421 population-based sample (age from 35 to 81) from Xicheng district, Beijing. METHODS: The levels of serum lipid profile, including TC, TG, HDL-C, LDL-C, ApoAI, ApoB were analyzed. The polymorphism of CETP gene were detected by PCR-RFLP method. RESULTS: The genotype frequencies of CETP-TaqIB B1B1, B1B2, B2B2 were 30.4%, 52.0%, 17.6% respectively, and the B1, B2 allele frequencies were 56.4%, 43.6%, and similar to that of Caucasian, Japanese and Taiwanese Chinese. There was no significant difference in the distribution of genotypes between the hyperlipidemia and the normalipidemia. Subjects for the B1B1 genotype had lower HDL-C levels than did B1B2 and B2B2 subjects, but the difference did not reach statistically significant. And there were no statistically significant differences among the genotype groups in the other plasma lipid levels. Several factors may be associated with the negative results: (1) The genetic variation was multiple, polynormal and different among various ethnic population. (2) One gene locus always was "minor gene". (3) Confounding factors. CONCLUSION: The study could not draw the conclusion that the polymorphism at CETP locus was associated with hyperlipidemia in the middle-aged and the elder in Beijing.

Adult↗
PubMed2001

TGF-beta I gene polymorphism in heart transplant recipients--effect on renal function.

Renal dysfunction is a severe late complication of heart transplantation (HTx). Transforming growth factor beta I (TGF beta I) is a potent multifunctional cytokine with profibrogeneic effect. TGF beta I gene polymorphism correlates with cytokine production. In the present study, we looked for a predictor of renal insufficiency after HTx. In 175 HTx pts and 268 controls, polymorphism in the signal peptide of the TGF beta gene, substitution of leucine-proline at codon 10 and arginine-proline at codon 25, was evaluated by PCR. Renal function was followed after HTx and was compared with the TGF beta I genotypes. There were no differences in the frequencies of alleles and genotypes of TGF beta I gene in the healthy population and HTx recipients; TGF beta I genotype distribution in recipients with ischemic heart disease and dilated cardiomyopathy was almost identical. Renal function was decreasing in most HTx recipients with time. Progression of renal insufficiency (RI) was worse in patients with Leu at codon 10 (LeuLeu vs. LeuPro p < 0.01, LeuLeu vs. ProPro; p < 0.01). RI progression was also more pronounced in individuals homozygous at codon 25 (ArgArg vs. ArgPro; p < 0.01). In individuals heterozygous at codon 10 (LeuPro), the genotype at codon 25 determined the progression of RI (LeuPro/ArgArg vs. LeuPro/ArgPro; p < 0.05). In our study, we have demonstrated the prognostic significance of TGF beta I gene polymorphism for renal insufficiency in heart transplant recipients.

Amino Acid Substitution↗
PubMed2003

Tumor necrosis factor-alpha, lymphotoxin-alpha, and interleukin-10 gene polymorphisms and restenosis after coronary artery stenting.

Inflammation is the primary response to vessel wall injury caused by stent placement in coronary arteries. The cytokines tumor necrosis factor (TNF)-alpha, lymphotoxin (LT)-alpha, and interleukin (IL)-10 are critically involved in inflammatory reactions. The intensity of the inflammatory process and the angiographic or clinical outcome after stenting are influenced by genetic factors. We investigated the possibility that single nucleotide polymorphisms of the genes encoding TNF-alpha (-863C/A, -308G/A), LT-alpha (252G/A), and IL-10 (-1082G/A, -819C/T, and -592C/A) are associated with the incidence of restenosis, death, or myocardial infarction (MI) after coronary stenting. The gene variations are known to be correlated with transcriptional activity and/or protein production. Our study included 1,850 consecutive patients with symptomatic coronary artery disease who underwent stent implantation. Follow-up angiography was performed in 1,556 patients (84.1%) at six months after the intervention. We found that the polymorphisms are not associated with restenosis, death, or MI. In addition, we did not observe a relationship between polymorphism-specific haplotypes and adverse angiographic and clinical outcomes. In conclusion, functionally relevant polymorphisms of the genes for TNF-alpha, LT-alpha, and IL-10 do not represent genetic markers indicating the risk of restenosis, death, or MI after coronary stenting.

Aged↗