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At least 487 records · Page 27Linked to original sources
PubMed2001

Association of angiotensinogen M235T and A(-6)G gene polymorphisms with coronary heart disease with independence of essential hypertension: the PROCAGENE study. Prospective Cardiac Gene.

OBJECTIVES: We examined the relationship between the angiotensinogen (AGT) gene M235T polymorphism, the variant promoter of the AGT gene A(-6)G and the angiotensin-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism and coronary heart disease (CHD) in native Gran Canaria Island habitants, who have the highest rates of CHD in Spain. BACKGROUND: Some studies subject that the ACE (I/D) polymorphism could be associated with CHD, while AGT (M235T) has been related to essential hypertension. METHODS: We studied 304 subjects with angiographic evidence of coronary artery disease and a clinical diagnosis of myocardial infarction or unstable angina and 315 age- and gender-matched controls. Blood was drawn and DNA extracted. Angiotensin-converting enzyme (I/D) gene polymorphism was analyzed by polymerase chain reaction (PCR) and AGT gene polymorphisms by restriction fragment length polymorphism-PCR and mutagenically-separated PCR. RESULTS: The ACE (I/D) polymorphism showed no association with CHD, whereas the frequency distribution of AGT (M235T) genotypes among patients and controls (235T: 29.1% and 19.0%; M235T: 48.5% and 50.2%; M235: 22.4% and 30.8%, respectively) was statistically different (p = 0.005) and not related to the presence of essential hypertension. Similar results were observed with the AGT A(-6)G polymorphism. In multiple logistic regression analysis, CHD odds ratio associated with 235T and M235 homozygotes were 1.7 (1.1 to 2.6) and 0.54 (0.36 to 0.82), respectively. CONCLUSIONS: This study shows that genetic variation of the AGT (M235T), but not the ACE (I/D), genotypes contributes to the presence of CHD independently of blood pressure profile in a subset of the Spanish population with a high prevalence of cardiovascular disease.

Adult↗
PubMed2025

Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis.

BACKGROUND: We did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups. METHODS: Relevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups. RESULTS: We included a total of 9 eligible studies, encompassing 1917 children with CHD, 1863 healthy children, 1717 mothers of the children with CHD and 1666 mothers of healthy children. In our study, the meta-analysis of fetal group revealed no significant association between any of the five genetic models for the MTHFD1-G1958A polymorphism and the risk of CHD. Subgroup analysis showed that associations between the MTHFD1-G1958A polymorphism and Tetralogy of Fallot (TOF) risk in the homozygote model (AA vs. GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). In addition, the MTHFD1-G1958A polymorphism was associated with the risk of CHD in racial subgroup, increasing the risk of CHD in Caucasians. In maternal analysis, 2 genetic models of MTHFD1-G1958A polymorphism increased the risk of CHD: the heterozygote model (GA vs. GG, OR = 1.22, 95%CI [1.04, 1.42], P = 0.01), and the dominance model (GA + AA vs. GG, OR = 1.17, 95%CI [1.01, 1.34], P = 0.03). CONCLUSIONS: The fetal MTHFD1-G1958A (rs2236225) gene polymorphism increase their risk of TOF. The maternal MTHFD1-G1958A polymorphism has a strong correlation with the risk of CHD, and there are racial differences in this correlation. Compared with GG genotype, the GA genotype increases the risk of CHD.

Humans↗
PubMed2002

[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus].

OBJECTIVE: To study the association between bcl-2 gene polymorphism and systemic lupus erythematosus (SLE) in Chinese and detect the synergism between IL-10 and bcl-2 genotypes in determining susceptibility to SLE. METHODS: The peripheral white blood cells from 232 nuclear families of SLE and 106 ethnically matched normal controls were collected and the DNA extracted. The allelic distribution of one microsatellite located in Bcl-2 gene was determined by using fluorescent-labeled primer and genotyping method. RESULTS: (1) The distribution frequency of Bcl-2 alleles and its major genotypes were significantly different between SLE group and normal controls (P = 0.001 and 0.0029 respectively). (2) Transmission disequilibrium existed in Bcl-2 alleles. Bcl-2-195 bp allele was preferentially transmitted to affected offspring (t: non-t = 122:82, P = 0.0051) by TDT approach. Individuals carrying specific genotypes with both Bcl-2-195 bp allele and IL-10G138 bp allele were at higher risk of developing SLE than those carrying only Bcl-2-195 bp allele or IL-10G138 bp allele (OR = 3.00, 1.77, 1.07 respectively). CONCLUSION: Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.

Adolescent↗
PubMed2002

[Association between Bcl-2 gene polymorphism with systemic lupus erythematosus].

OBJECTIVE: To study the association between Bcl-2 gene polymorphism and systemic lupus erythematosus (SLE) in Chinese and detect the synergism between IL-10 and Bcl-2 genotypes in determining susceptibility to SLE. METHODS: The peripheral white blood cells from 232 nuclear families of SLE and 106 ethnically matched normal controls were collected and the DNA extracted. The allelic distribution of one microsatellite located in Bcl-2 gene was determined by using fluorescent-labeled primer and genotyping method. RESULTS: (1) The distribution frequency of Bcl-2 alleles and its major genotypes were significantly different between SLE group and normal controls (P = 0.001 and 0.0029 respectively). (2) Transmission disequilibrium existed in Bcl-2 alleles. Bcl-2-195 bp allele was preferentially transmitted to affected offspring (t: non-t = 122:82, P = 0.0051) by TDT approach. Individuals carrying both Bcl-2-195 bp allele and IL-10G138 bp allele were at higher risk of developing SLE than those carrying only Bcl-2-195 bp allele or IL-10G138 bp allele (OR = 3.00, 1.77, 1.07 respectively). CONCLUSION: Bcl-2 gene polymorphism is associated with SLE and may be directly involved in the process of SLE or in linkage disequilibrium with some susceptibility loci nearby. Synergistic effect may exist between IL-10 and bcl-2 genotypes in determining susceptibility to SLE.

Adult↗
PubMed2003

No effect of angiotensin-converting enzyme gene polymorphism on disease progression and left ventricular hypertrophy in autosomal dominant polycystic kidney disease.

BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) shows a variable clinical course suggesting that genetic modifiers might play a role. There are conflicting results about the effect of angiotensin-converting enzyme (ACE) gene polymorphism on the progression of renal failure in ADPKD. Also, the association between ACE gene polymorphism and the occurrence of left ventricular hypertrophy (LVH) has not been investigated in patients with ADPKD. METHODS: ACE genotype analysis was performed in 409 Caucasian patients (137 male, 272 female) with ADPKD. Echocardiographic examination was done in 164 of these patients. RESULTS: There were no significant differences between different ACE genotypes regarding renal function, renal volume, urinary protein excretion, blood pressure, the rate of hypertension, the age at diagnosis of hypertension, the rate of LVH and the incidence of end-stage renal disease (ESRD). CONCLUSION: ACE gene polymorphism does not have a significant effect on the development of ESRD and the prevalence of LVH in patients with ADPKD.

Adult↗
PubMed2005

[The relationship between ApoE gene polymorphism and lipid parameters].

OBJECTIVE: To investigate the relationship between apolipoprotein E (ApoE) gene polymorphism and serum lipid profile. METHODS: Polymerase chain reaction-restricted fragments length polymorphism (PCR-RFLP) was used to determine ApoE genotype on 1452 subjects including 1101 cases with cardio cerebrovascular disease including 379 cases with cerebral infarction, 313 cases with cerebral hemorrhage, 257 cases with coronary heart disease, and 152 cases with other types and on 351 healthy controls. RESULTS: After adjusting for age, sex and BMI, the subjects with ApoE4 carriers had significantly higher levels of total cholesterol (TC), low density lipoprotein-cholesterol (LDL-C) and ApoB than those with ApoE2 carriers and ApoE3/3 (P < 0.05), and higher level of triglyceride(TG) than those with ApoE3/3 (P < 0.05), while the subjects with ApoE2 carriers had significantly higher levels of high density lipoprotein-cholesterol (HDL-C) than those with ApoE4 (P < 0.05). The effects of ApoE polymorphism exhibited similarity in different sex and age of subjects. Linear regression analysis showed that unlike ApoE3/3, the HDL-C level in ApoE2 carriers tend upward with age (beta = 0.178, P = 0.015), significantly higher than ApoE4 carriers and ApoE3/3 in the cohort of 65-74 years (P < 0.05). The level of TC and TG in ApoE4 carriers had a tendency of downward with age (p = -0.179, P = 0.009; beta = -0.147, P = 0.032). CONCLUSION: ApoE gene polymorphism affected profile of blood lipids and the effects were found in different sex and age. The degrees of effects related to ApoE2 carriers and ApoE4 carriers to blood lipid level seemed to be related to age.

Adult↗
PubMed2002

[The involvement of the renin-angiotensin system gene polymorphisms in coronary heart disease].

INTRODUCTION AND OBJECTIVES: Previous studies angiotensin-converting enzyme gene insertion/deletion polymorphism ACE (I/D), angiotensinogen gene polymorphism, and angiotensin II AT1 receptor polymorphism in relation to coronary heart disease controversial results. This study was designed to analyze the association between these gene polymorphisms and the first coronary event in individuals residing on Grand Canary Island, Spain. PATIENTS AND METHOD: Case-control study. Case subjects (n = 304) were recruited at the first coronary event; age-matched controls (n = 315) were randomly selected from the Grand Canary population. Participants were examined for the usual risk factors. Blood samples were obtained for biochemical analyses and DNA extraction. Genotyping was performed by PCR and restriction analysis. RESULTS: Neither ACE (I/D) nor AT1 receptor polymorphism was associated with coronary heart disease, whereas the frequency distribution of AGT M235T genotypes among patients and control subjects (TT: 29% and 19%; MT: 48% and 50%; MM: 22% and 31%, respectively) was statistically different (p = 0.003). Multiple logistic regression analysis identified the TT genotype of the angiotensinogen gene (OR = 1.9; 95% CI 1.1-3.4), diabetes (OR = 4.4; 95% CI 2.0-9.4) and hypertension (OR = 2.1; 95% CI 1.3-3.3) as risk factors predicting the coronary event. CONCLUSIONS: Our results provide no evidence of an association between ACE (I/D) or AT1 receptor polymorphism and coronary heart disease. However, homozygosity for the T allele of the angiotensinogen gene, diabetes and hypertension independently place individuals at higher risk of experiencing a coronary event on Grand Canary Island.

Case-Control Studies↗
PubMed2004

Apolipoprotein B gene polymorphism and plasma lipid levels in phenylketonuric children.

The associations of apolipoprotein B (apoB) gene polymorphisms with blood lipid levels, also accounting for apo E polymorphisms, were assessed in 82 phenylketonuric (PKU) children on diet (34 girls, 48 boys, age 4-12 years, median 8 years). Dietary and plasma biochemical assessments were performed at six-month intervals from the age of 24 months onwards. Apo B (XbaI, MspI, EcoRI restriction sites) and apo E (E2, E3, E4) gene polymorphisms were determined by restriction-enzyme analysis after DNA extraction from blood. Subgroups of apoB polymorphisms were similar for energy intake, dietary lipids and distribution of apo E polymorphisms. Children carrying XbaI X+ / X+ showed higher plasma levels of LDL cholesterol than children carrying X- / X-/+. This gene-related response to dietary habits might play a role also in non-PKU individuals fed low-fat, low-cholesterol diets.

Apolipoproteins B↗
PubMed2006

IFN gamma and CXCR-1 gene polymorphisms in idiopathic bronchiectasis.

Idiopathic bronchiectasis is a disease of chronic, bacterial lung infection, unresolving inflammation and progressive lung damage. Bronchiectasis can be associated with autoimmune diseases including ulcerative colitis. Defects of both innate and adaptive immunity have been proposed. The airway inflammation is characterized by interleukin-8 (IL-8) expression and infiltration by neutrophils and T cells. Here we investigated two candidate gene polymorphisms that may contribute to disease susceptibility: a CXCR-1 (+2607 G/C) gene polymorphism that is implicated in IL-8 binding and neutrophil trafficking as well as the interferon-gamma (IFNgamma) (+874 T/A) polymorphism which is linked to levels of IFNgamma production. These polymorphisms were distributed similarly in the idiopathic bronchiectasis group and controls, suggesting that these two candidate gene polymorphisms are not associated with disease susceptibility.

Alleles↗
PubMed2003

Cytokine gene polymorphisms moderate illness severity in infants with respiratory syncytial virus infection.

Illness severity and frequency of complications in infants with respiratory syncytial virus (RSV) infection may be influenced by the local elaboration of cytokines. Cytokine gene polymorphisms moderate severity of illness in various inflammatory and infectious diseases. We performed cytokine genotyping on 77 infants hospitalized with confirmed RSV infection to determine whether specific cytokine gene polymorphisms are associated with illness severity or complications. DNA was extracted from buccal brushings and assayed for tumor necrosis factor (TNF)-alpha, interferon (IFN)-gamma, interleukin (IL)-6 and IL-10, and transforming growth factor (TGF)-beta1 genotypes using polymerase chain reaction-sequence-specific primer technology. Clinical outcomes consisted of severity scores of lower respiratory illness, blood oxygen saturation, lengths of oxygen supplementation, and intensive care unit (ICU) and hospital stays, and the presence or absence of pneumonia and otitis media. IFN-gamma genotype was related to severity of lower respiratory illness, duration of ICU stay, and frequency of otitis media. Additionally, IL-6 genotype was related to the length of oxygen (O(2)) supplementation and hospital stay, IL-10 genotype to the frequency of pneumonia, and TGF-beta1 genotype to O(2) saturations at presentation. There were no associations between TNF-alpha genotype and any of the outcome parameters. These results demonstrate that certain cytokine gene polymorphisms contribute to illness severity and complications during RSV infection in infants. If future prospective studies confirm these observations, cytokine genotyping may be a useful tool for identifying "at risk" infants who may benefit from the selective use of preventive or early intervention treatments for RSV.

Child, Preschool↗
PubMed2001

A prospective evaluation of the interleukin-1 receptor antagonist intron 2 gene polymorphism and the risk of myocardial infarction.

While an interleukin-1 receptor antagonist gene polymorphism (IL1RN-VNTR) has recently been hypothesized to be a risk factor for coronary artery disease, no prospective data relating this polymorphism to subsequent risk of coronary events are available. We therefore investigated the association between IL1RN-VNTR genotype and the incidence of myocardial infarction (MI) in a large, prospective cohort of initially healthy men. The IL1RN-VNTR was evaluated among 385 MI case subjects and an equal number of age- and smoking-matched control subjects during a 12-year follow-up. Overall, the allele and genotype distributions were similar among cases and controls, both in the total cohort and in all subgroups evaluated. All observed genotype frequencies were in Hardy-Weinberg equilibrium. Furthermore, the relative risk in a comparison of homozygous mutant to homozygous wild-type was 0.89 (95%CI = 0.5-1.6; P = 0.9). In this large, prospective study, the IL1RN-VNTR gene polymorphism is not associated with risks of future MI. These data also highlight the importance of hypothesis testing studies in genetic epidemiology, particularly for hypotheses generated from small samples or post hoc subgroup analyses.

Adult↗
PubMed2001

Association of asthma with beta(2)-adrenergic receptor gene polymorphism and cigarette smoking.

Recent studies have suggested that two polymorphisms of the beta(2)-adrenergic receptor (beta(2)AR) gene at codons 16 (arginine to glycine) and 27 (glutamine to glutamate) affect an individual's airway responsiveness, or response to acute or chronic beta(2)-agonist therapy but are not risk factors for asthma. We hypothesize that there is an interaction effect on asthma between the beta(2)AR gene polymorphisms and cigarette smoking. A case-control study was conducted in 128 asthma cases and 136 control individuals identified from 10,014 studied subjects in rural Anqing, China. Allele-specific polymerase chain reaction (PCR) was used to genotype beta(2)AR gene polymorphisms. Multiple logistic regression was used to adjust for potential confounding factors. We found a marginally significant interaction between cigarette smoking and beta(2)AR-16 genotype after adjusting for important confounding factors (p = 0.06). Specifically, we found that compared with never-smoking Gly-16 homozygotes, those ever-smokers who are Arg-16 homozygotes had a significantly increased risk of asthma (odds ratio [OR] = 7.81; 95% confidence interval [CI]: 2.07 to 29.5). This association showed a clear dose-response relationship with the number of cigarettes smoked. However, there was no significant association of asthma with polymorphisms of the beta(2)AR at position 27 (OR = 1.38; 95% CI: 0.69 to 2.73). Our study suggests a gene-environment interaction between the Arg-16 genotype and ever cigarette smoking with respect to the susceptibility of an individual to asthma.

Adult↗
PubMed2001

CTLA4 gene polymorphism contributes to the mode of onset of diabetes with antiglutamic acid decarboxylase antibody in Japanese patients: genetic analysis of diabetic patients with antiglutamic acid decarboxylase antibody.

AIM: The mode of onset is occasionally similar in Type 1 and Type 2 diabetes mellitus, and some patients with Type 2 diabetes are positive for antiglutamic acid decarboxylase antibody (GAD Ab). We investigated the contribution of Type 1 diabetes susceptibility genes to the progression of the insulin-deficient state and mode of onset of Type 2 diabetes in GAD Ab-positive (GAD-Ab+) patients. We examined the variable number of tandem repeats in the promoter region of the insulin gene (INS-VNTR, insulin-dependent diabetes mellitus (IDDM) 2) and cytotoxic T lymphocyte antigen 4 (CTLA4, IDDM12) as representative of Type 1 diabetes susceptibility genes. METHODS: Patients with Type 2 diabetes who were GAD-Ab+ (n = 51) were selected for this study. In INS-VNTR, the class I allele was classified according to length (1S, 25-38 repeat units; 1M, 39-41 repeat units; 1L, 42-44 repeat units) and the exact class I allele length was analysed by specific polymerase chain reaction (PCR) amplifications. Analyses of classes II and III were performed by Southern blot. CTLA4 gene polymorphism (exon 1 position 49, G/A) was analysed by PCR-restriction fragment length polymorphism. RESULTS: The distribution of INS-VNTR was no different between Type 1 diabetes and Type 2 diabetes with GAD Ab. The allele frequencies of CTLA4 gene polymorphism G and A in Type 2 diabetes/GAD-Ab+ were significantly different from those of Type 1 diabetes/GAD-Ab+ (G: 53%, A: 47% vs. G: 84%, A: 16%; P < 0.0001). CONCLUSIONS: Our data showed that GAD-Ab+ Japanese patients presenting with Type 2 diabetes have shifted A allele while patients with abrupt onset have shifted G allele of CTLA4 gene polymorphism. Our results suggest that immunological function and polymorphism of the CTLA4 gene may contribute to the pathogenesis and progression of Type 1 diabetes.

Abatacept↗
PubMed2003

PPARgamma gene polymorphism is associated with exercise-mediated changes of insulin resistance in healthy men.

Exercise training improves insulin sensitivity, but individual responses vary greatly. Peroxisome proliferator-activated receptor-gamma (PPARgamma) is a regulator of adipose cell differentiation and plays an important role in systemic insulin action. We investigated whether PPARgamma gene polymorphism affects insulin resistance in response to exercise in Japanese healthy men. The exercise program at an individual intensity of 50% of the maximal heart rate was performed for 20 to 60 min/d, and 2 to 3 days per week to attain a level of physical activity of 700 kcal/wk. The program was conducted for 3 months without any dietary intervention, and the clinical and metabolic characteristics were examined before and after the exercise program. Body mass index (BMI) did not change significantly after the exercise program, whereas percentage of body fat (% body fat), fasting plasma glucose (FPG), and serum leptin levels decreased significantly. Pro12Ala polymorphism in PPARgamma gene was performed on genomic DNA isolated from human leukocytes and examined with polymerase chain reaction (PCR) and subsequent restriction enzyme analysis using BstU-I. In this study, the Ala allele did not correlate with fasting immunoreactive insulin (IRI) and homeostasis model assessment-insulin resistance index (HOMA-R) at baseline, but did so with the changes in IRI and HOMA-R after exercise (DeltaIRI, Pro/Pro 0.55 +/- 3.49 microU/mL v Pro/Ala -2.83 +/- 1.47 microU/mL, P <.05; DeltaHOMA-R, Pro/Pro 0.09 +/- 0.86 v Pro/Ala -0.61 +/- 0.32, P <.05). This result suggests that the Ala allele is associated with improvement in insulin resistance after exercise. We conclude that PPARgamma gene polymorphism may be a reliable indicator of whether exercise will have a beneficial effect as part of the treatment of insulin resistance syndrome.

Adult↗
PubMed2005

Leptin gene polymorphisms and their phenotypic associations.

In an era of rapidly increasing prevalence of human obesity and associated health problems, leptin gene polymorphisms have drawn much attention in biomedical research. Leptin gene polymorphisms have furthermore drawn much attention from animal scientists for their possible roles in economically important production and reproduction traits. Of the polymorphisms reported for exonic, intronic, and promoter regions of the leptin gene, 16 have been included in association studies in humans, 19 in cattle, and 6 (all exonic or intronic) in pigs. In humans, associations have been found with overweight or (early-onset) obesity, non-insulin-dependent diabetes mellitus, prostate cancer, and non-Hodgkin's lymphoma. In cattle, associations have been found with feed intake, milk yield traits, carcass traits, and reproduction-related traits, and in pigs with feed intake, average daily gain, carcass traits (backfat/leanness), and reproduction performance traits. Many of the polymorphisms were only included in a limited number of association studies, or the phenotypes studied varied largely for a given polymorphism between studies. Therefore, many of the associations found for these polymorphisms need to be confirmed in future studies before firm conclusions can be drawn.

Animals↗
PubMed2001

ACE gene polymorphism and long-term renal graft function.

OBJECTIVES: The long-term outcome of transplanted kidneys has not changed substantially and only a minority of grafts survives more than 15 yr. The aim of this study was to determine the influence of ACE gene polymorphism on long-term outcome after renal transplantation. DESIGN AND METHODS: Using PCR, we evaluated ACE I/D gene polymorphism in a group of patients with long-term graft function (LTF) over 15 yr and compared it with control groups of transplant recipients and population sample. RESULTS: The distribution of genotypes in the LTF group differed from transplant controls (p < 0.05). Moreover, DD homozygotes in the LTF group had better creatinine clearance (DD: 1.1 +/- 0.3, ID: 0.96 +/- 0.3, II: 0.76 +/- 0.3 mL/s; p < 0.05). There were no differences in genotype distribution between transplant and population samples. CONCLUSIONS: Results of our study have demonstrated a possible connection between the DD variant of ACE I/D gene polymorphism and excellent long-term graft function.

Adult↗
PubMed2004

Association between vitamin D receptor gene polymorphisms and response to treatment of pulmonary tuberculosis.

BACKGROUND: Polymorphisms in the gene that encodes the vitamin D receptor (VDR) may influence the host response to Mycobacterium tuberculosis infection. METHODS: In a Peruvian community with a high incidence of tuberculosis (TB), VDR TaqI and FokI polymorphisms were compared among 103 patients with pulmonary TB and 206 matched healthy control subjects. Associations of VDR polymorphisms with treatment outcome were analyzed among 78 patients undergoing treatment of pulmonary TB. RESULTS: Sputum mycobacterial culture and auramine stain conversions were significantly faster among participants with the FokI FF genotype, compared with participants with the non-FF genotypes. Sputum culture conversion was faster among participants with the TaqI Tt genotype, compared with those with the TT genotype. Increased probability of culture conversion during TB treatment was independently associated with the TaqI Tt genotype (age- and sex-adjusted relative risk, 4.28; 95% confidence interval, 1.88-9.75; P = .001). VDR polymorphisms were not significantly associated with susceptibility to TB in the case-control study. CONCLUSIONS: VDR gene polymorphisms are associated with the time to sputum culture and auramine stain conversion during TB treatment. To our knowledge, the present study is the first report of a specific host gene influence on the outcome of TB treatment. These findings demonstrate the potential clinical relevance of immunomodulatory functions of vitamin D metabolites acting via the VDR in the host response against pulmonary TB.

Adolescent↗
PubMed2006

Association of RAGE gene polymorphisms with in-stent restenosis in non-diabetic Korean population.

BACKGROUND: Interaction between advanced glycosylation end products (AGEs) and receptor for AGEs (RAGE) in vessel wall may lead to inflammation, smooth muscle cell proliferation, and extracellular matrix production, culminating in exaggerated intimal hyperplasia and restenosis. We investigated the possibility that single nucleotide polymorphisms of the genes encoding RAGE are associated with in-stent restenosis after coronary stenting. METHODS: Our study included 334 consecutive non-diabetic male patients with symptomatic coronary artery disease who underwent bare metal stent implantation. Follow-up angiography was performed in 297 patients (88.9%), 6 months after intervention. We screened -1106T-->C, -443T-->C, -388T-->A, -257G-->A, +557G-->A and +1704G-->T RAGE polymorphisms in these patients. Genotyping was performed by single base extension with amplifying primers and probes for TaqMan. RESULTS: A total of 355 target lesions were evaluated, in 297 patients. There was no significant association of the -1106T-->C, -443T-->C, -388T-->A, -257G-->A, +557G-->A or +1704G-->T polymorphisms with in-stent restenosis after coronary artery stenting. We did not observe a significant difference between the genotype distributions and the rates of angiographic restenosis between the polymorphisms. In a multivariate analysis of angiographic restenosis, we examined the possible influence of the baseline, lesion-related, and procedural variables. After adjustment for these potentially confounding factors, the multivariate analysis did not reveal an association of polymorphism with angiographic restenosis. CONCLUSION: Our observation suggests that the RAGE gene polymorphism is not associated with in-stent restenosis after coronary artery stenting in non-diabetic patients in the Korean population.

Angioplasty, Balloon, Coronary↗