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PubMed2003

[The relationship between angiotensin converting enzyme gene polymorphism and hypertensive kidney lesion and PAI-1 in hypertension patients].

The work is to explore the relationship between the polymorphism of angiotensin converting enzyme (ACE) gene and hypertensive kidney lesion/PAI-1 in hypertension patients. ACE genotyping with polymorase chain reaction (PCR) was performed in 96 unrelated healthy controls, 67 hypertensives without kidney lesion and 70 hypertensives complicated with kidney lesion. The plasma PAI-1 were determined with ELISA. No significant differences could be detected between ACE gene I/D polymorphism and hypertension. However, the frequencies of DD genotype and deletion allele among the hypertensives complicated with kidney lesion were higher than those among the healthy controls and those among the hypertensives without kidney lesion."chi2" values were 6.8589,5.6162 and 5.9085,5.372 respectively. The plasma PAI-1 level showed significant differences among DD genotype,ID genotype and II genotype(P<0.05). The DD genotype of ACE gene may be a risk for hypertensive kidney lesion. The plasma PAI-1 level is associated with ACE gene polymorphism.

English Abstract↗
PubMed2004

VDR and NRAMP1 gene polymorphisms in susceptibility to pulmonary tuberculosis among the Chinese Han population: a case-control study.

OBJECTIVE: To explore the potential role of vitamin D receptor (VDR) gene and natural-resistance-associated macrophage protein 1 (NRAMP1) gene polymorphisms in susceptibility to pulmonary tuberculosis (PTB) in the Chinese Han population. DESIGN: In an unmatched case-control study, 120 well defined PTB patients and 240 unrelated normal controls were enrolled. Information on potential risk factors of PTB was collected using a standard questionnaire. Genetic polymorphisms of VDR gene (TaqI and FokI) and NRAMP1 gene (INT4, D543N and 3'UTR) were analysed using PCR and RFLP. Unconditional logistic regression was performed, and odds ratios (ORs), their 95% confidence intervals (CI) and P values were estimated using maximum likelihood methods. RESULTS: Univariate analysis demonstrated that FokI-ff homozygotes, D543N G/A and 3'UTR TGTG+/del heterozygotes occurred more frequently in patients than in controls. The crude ORs were 2.345 (95%CI 1.222-4.499), 2.590 (95%CI 1.043-6.434) and 1.890 (95%CI 1.171-3.051), respectively, compared with their corresponding common genotypes. The P values were 0.033, 0.041 and 0.030, respectively. After adjusting for exposure history and BCG immunisation in the multivariate analysis, the adjusted ORs were 4.625 (95%CI 1.737-12.312), 2.415 (95%CI 1.079-8.759) and 2.187 (95%CI 1.146-4.175), with P values of 0.002, 0.036 and 0.018, respectively. Neither univariate nor multivariate analysis disclosed any significant association between the disease and TaqI or INT4. CONCLUSIONS: Polymorphisms in the VDR and NRAMP1 gene are statistically associated with susceptibility to PTB in the Chinese Han population.

Adult↗
PubMed2006

Negative association of endothelial nitric oxide gene polymorphism with hypertension in Turkish patients: effect of ecNOS polymorphism on left ventricular hypertrophy.

BACKGROUND: Endothelial nitric oxide synthase produces nitric oxide which is involved in many physiologic regulatory functions. Variable number of tandem repeats in intron 4 of endothelial nitric oxide synthase gene are reported to be associated with blood pressure regulation. Nitric oxide is involved in regulation of cardiomyocyte genes but it is not known If endothelial nitric oxide synthase 4 gene polymorphisms are related with left ventricular hypertrophy. We studied endothelial nitric oxide synthase 4a/b allele status in hypertensive and normotensive patients and echocardiographic parameters in a subgroup of hypertensive group. METHODS: We performed a case-control study involving 110 Turkish hypertensive patients and 87 controls. All subjects were genotyped for endothelial nitric oxide synthase 4a/b polymorphism. Echocardiographic measurements were obtained in 94 of the hypertensive patients. RESULTS: Endothelial nitric oxide synthase 4a/b genotype frequencies were 6.4%, 23.6%, 70% in hypertensives and 1.1%, 18.4%, 80.5% in controls for a/a, a/b, b/b, respectively. Left ventricular dimensions, mass and diastolic indices were not different across endothelial nitric oxide synthase 4 genotypes. Patients with 4a/a genotype had higher interventricular septal thickness than the other group; 14.83(1.6), 11.91(1.51), 12.21(1.56) for a/a, a/b, b/b, respectively and p = 0.0001. CONCLUSION: Endothelial nitric oxide synthase 4a/b gene polymorphism is not associated with hypertension in Turkish patients. 4a/a genotype was associated with higher interventricular septal thickness in hypertensive patients.

Case-Control Studies↗
PubMed2002

The association of lumbar disc disease with vitamin-D receptor gene polymorphism.

BACKGROUND: Although the etiology of lumbar disc disease is unknown, it has been suggested that a genetic factor contributes to its development. Recently, some genetic polymorphisms have been found to be related to clinical disorders. We investigated the association between vitamin-D receptor gene and estrogen receptor gene polymorphisms and lumbar disc disease in young adults. METHODS: The participants included 205 young adults (166 women and thirty-nine men) with or without low-back problems. A magnetic resonance imaging scan of the lumbar spine was performed for all subjects, and the grade of disc degeneration was determined, according to the four-grade classification system of Schneiderman et al. The presence or absence of disc herniation was also evaluated. Genomic DNA was extracted from peripheral blood samples. The polymorphisms of the vitamin-D receptor and estrogen receptor genes were detected with use of a polymerase-chain-reaction assay. The restriction fragment length polymorphisms (RFLPs) for the vitamin-D receptor gene were analyzed by TaqI and ApaI restriction enzymes. XbaI and PvuII restriction enzymes were used for the estrogen receptor gene analysis. The distribution of polymorphism in subjects with disc degeneration and/or disc herniation was compared with that in the normal subjects. RESULTS: The allelic frequencies of both vitamin-D receptor gene and estrogen receptor gene polymorphisms were similar to those in previous analyses of Japanese subjects. The allelic variation in the vitamin-D receptor gene was associated with multilevel and severe disc degeneration and disc herniation. The Tt allele was found to be more frequently associated with multilevel disc disease, severe disc degeneration, and disc herniation than was the TT allele. No additional associations were found. CONCLUSIONS: This study revealed that the Tt allele of the vitamin-D receptor gene was more frequently associated with multilevel and severe disc degeneration and disc herniation than was the TT allele, pointing to an increased risk of disc disease at an early age in subjects with the Tt allele in the vitamin-D receptor gene.

Adult↗
PubMed2006

Lack of association between mannose-binding lectin gene polymorphisms and juvenile idiopathic arthritis in a Han population from the Hubei province of China.

Many studies have reported that polymorphisms of the mannose-binding lectin (MBL) gene are associated with autoimmune disease. Here, we investigate the relationship between MBL gene polymorphisms and susceptibility to juvenile idiopathic arthritis (JIA) in a Han-nationality population from the Hubei province of China. PCR-restriction fragment length polymorphism was used to investigate polymorphisms of codons 54 and 57 in exon 1 of the MBL gene in 93 patients with JIA and 48 control children. Neither group showed codon 57 polymorphisms. There was no significant difference in the genotypic frequencies of codon 54 between patients with JIA and healthy controls (wild type, 71.0% versus 75.0%, respectively; heterozygous type, 25.8% versus 25.0%, respectively; and homozygous type, 3.2% versus 0.0%, respectively). In addition, no association was found between the subgroups of patients with JIA and control individuals. Our results provide no evidence for a relationship between MBL gene mutation and susceptibility to JIA.

Adolescent↗
PubMed2001

Gene polymorphism in IL-1 receptor antagonist affects its production by monocytes in IgA nephropathy and Henoch-Schonlein nephritis.

OBJECTIVE: To define the functional significance of IL-1 receptor antagonist (IL-1ra) gene polymorphism and to investigate, the production of IL-1ra by monocytes from individuals with different genotypes of IL-1. METHODS: The genotype of IL-1ra was detected by polymerase chain reaction (PCR). Peripheral monocytes obtained from patients with immunoglobin A nephropathy (IgAN), Henoch-Schonlein purpura nephritis (HSPN) and normal subjects were matched in sex and age between the IL1RN-2 allele carriers and non-carriers. The secretion of IL-1ra, IL-1 alpha and IL-1 beta in the supernatant of GM-CSF (10 ng/ml) treated and untreated monocytes were measured by ELISA. RESULTS: The secretion of IL-1ra by monocytes stimulated with GM-CSF was significantly higher in the IL1RN-2 allele non-carriers than those of carriers both in IgAN (21.55 +/- 3.08 vs 13.85 +/- 2.24 ng/ml, P < 0.001) and HSPN (23.72 +/- 6.68 vs 12.67 +/- 2.24 ng/ml, P < 0.01) as well as in normal controls (20.29 +/- 1.45 vs 10.51 +/- 2.3 ng/ml, P < 0.001). All showed no significant differences in monocyte secretion of IL-1 alpha and IL-1 beta by GM-CSF stimulation between the IL1RN-2 allele carriers and non-carriers. CONCLUSIONS: These results indicate that a functional correlation of the IL1RN-2 allele and IL-1ra production is present in patients with IgAN and HSPN. This gene polymorphism control of IL-1ra production may contribute to the variety of clinical responses to inflammatory stimulation in individuals with different genotype of IL-1ra.

DNA↗
PubMed2005

Monocyte chemoattractant protein-1 A-2518G gene polymorphism and renal survival of Japanese patients with immunoglobulin A nephropathy.

BACKGROUND: Monocyte chemoattractant protein (MCP)-1 is closely related to the pathogenesis of the progression of various chronic renal diseases, including IgA nephropathy (IgAN), through its chemoattractant effect on macrophages. However, the correlation of MCP-1 gene polymorphism with the long-term prognosis of Japanese patients with IgAN has not been clearly determined yet. METHODS: We investigated 277 Japanese patients diagnosed with IgAN based on renal biopsy to clarify the association between the progression of IgAN and MCP-1 gene polymorphism at position A-2518G, which regulates the transcription of the MCP-1 gene. RESULTS: The incidence of endstage renal disease was significantly higher in patients with the AA genotype (47.1%) compared to those with the AG (24.1%) or GG (27.4%) genotype (P = 0.024). Moreover, Kaplan-Meier analysis revealed that the AA genotype significantly facilitated the progression of renal disease (log rank; P = 0.0029), and Cox proportional hazards regression model analysis showed that the AA genotype represented a 2.058-fold risk for the progression of renal disease (P = 0.026) compared to the AG/GG genotype. However, when the patients were treated with angiotensin-converting enzyme inhibitor and/or angiotensin receptor blocker, or corticosteroid, homozygosity for the -2518A allele was not associated with a higher rate of incidence of endstage renal disease. Serum MCP-1 levels were higher although not significantly so, in the patients with IgAN possessing the AA genotype. CONCLUSIONS: The AA genotype at MCP-1 -2518 was an independent risk factor for the progression of renal disease in Japanese patients with IgAN, and was closely associated with renal survival.

Adult↗
PubMed1999

IL1B gene polymorphisms influence the course and severity of inflammatory bowel disease.

There is evidence of a disbalance in the inflammatory regulation of patients with inflammatory bowel diseases (IBD). Interleukin-1 beta plays an important role in the pro-inflammatory response. Our aim was to study the influence which IL1B gene polymorphisms may have on the severity and course of these diseases. Ninety-six patients with ulcerative colitis (UC), 98 patients with Crohn's disease (CD), and 132 ethnically matched healty individuals (HC) were typed for the polymorphic sites in the promoter region (position -511) and in exon 5 (position +3953) of the IL1B gene, using polymerase chain reaction (PCR)-based methods. In the CD group a significant association (P = 0.009) was found in this pair of genes. Homozygotes for allele 1 at position +3953 were more often present (69% vs 31%) in the subgroup of patients carrying at least one copy of allele 2 at position -511. This association was significant in patients with non-perforating disease (P = 0.002), but was not present in patients with perforating-fistulizing disease. The distribution of both allelic pairs in the non-fistulizing group proved to be significantly different from HC (P < 0.05), UC (P < 0.03), and the fistulizing group (P < 0.05). There was a similar association in non-operated patients (P = 0.024), whereas no such association was found in surgically treated patients. Among carriers of allele 2 at position -511, UC patients with more severe bleeding symptoms (P = 0.006) were less frequently found. These results suggest that IL1B gene polymorphisms participate in determining the course and severity of inflammatory bowel disease and contribute to explain the heterogeneity of these diseases.

Adolescent↗
PubMed2004

Gene polymorphisms in pro-inflammatory cytokines are associated with systemic inflammation in patients with severe periodontal infections.

The inflammatory response to chronic infections such as periodontitis may be central to the systemic implications of these diseases. This study examined the possible association between specific gene polymorphisms and the systemic inflammatory response in individuals suffering from severe generalized periodontitis. Ninety-four subjects with periodontitis were genotyped for polymorphisms in IL-1A (-889), IL-1B (-511, +3954), TNF-A (-308), IL-6 (-174) and TLR4 (-299, -399) genes. We found that the genotypes for IL-1A or IL-6 are associated with higher levels of serum IL-6 (P < 0.03) and serum CRP (P < 0.05), similarly the TNF-A genotype is associated with higher levels of serum IL-6 (P < 0.05) after correction for age, body mass index, gender, ethnicity and cigarette smoking. Systemic inflammatory responses are higher in severe periodontitis patients carrying rare alleles for functional inflammatory gene polymorphisms. These results suggest that cytokine genotypes are important determinants of the systemic inflammatory response in subjects with periodontitis. Genetic polymorphism therefore, may in part explain the reported association between periodontitis and systemic disease.

Base Sequence↗
PubMed1996

Relationship between the angiotensin converting enzyme gene polymorphism and the effects of enalapril on left ventricular hypertrophy and impaired diastolic filling in essential hypertension: M-mode and pulsed Doppler echocardiographic studies.

OBJECTIVE: To investigate the relationship between the angiotensin converting enzyme (ACE) gene polymorphism and the effects of the ACE inhibitor enalapril on left ventricular hypertrophy and impaired diastolic filling. DESIGN AND METHODS: Enalapril (5-10 mg/day) was administered for 12 months to 60 previously untreated patients with essential hypertension. M-mode and pulsed Doppler echocardiography were performed before and after treatment, and changes in various parameters after treatment with enalapril were examined. ACE gene polymorphism was examined by the polymerase chain reaction method and the patients were classified as having the 190 bp deletion homozygous (DD) genotype, the 490 bp insertion homozygous (II) genotype or the 490 bp insertion 190 bp deletion heterozygous (ID) genotype. RESULTS: The DD genotype was observed in 10 patients (17%), the ID genotype in 24 patients (40%) and the II genotype in 26 patients (43%). Plasma ACE activity before treatment with enalapril was significantly higher in seven patients with DD genotype than it was in 18 patients with ID genotype and in 14 patients with II genotype. In all of the 60 patients, the left ventricular mass index, the peak atrial systolic velocity:early diastolic velocity ratio and the deceleration time from the peak of the early diastolic wave to the baseline in transmitral flow velocity were decreased significantly after treatment with enalapril. The changes in left ventricular mass index and atrial systolic velocity:early diastolic velocity ratio after enalapril administration were significantly greater in the DD genotype group than they were in the other two genotype groups. CONCLUSION: Enalapril-induced regression of left ventricular hypertrophy and improvement in left ventricular impaired diastolic filling were significantly greater in the DD genotype group than they were in the ID and II genotype groups, suggesting that the circulating and tissue renin-angiotensin systems, particularly the former system, are most active in hypertensive patients with the DD genotype.

Adult↗
PubMed2004

[The effects of aerobic exercise on hormones, blood lipids and body composition in middle-aged obese women according to beta 3-adrenergic receptor gene polymorphisms].

PURPOSE: This research was conducted to provide basic information about the effects of aerobic exercise on physiological change in middle-aged obese women according to differences of beta 3-adrenergic receptor polymorphisms. METHOD: Twenty-nine middle aged obese women with over 30%BMI were divided into three groups according to beta 3-adrenergic receptor gene polymorphism [Variable Group (VG):9, Normal Group (NG):10, Control Group (CG):10]. The VG and NG groups performed walking at 50% exercise intensity for 30 minutes a day, 4 days a week, for 12 weeks. The data was analyzed using the SPSS program. RESULT: The level of leptin, insulin and % body fat in the VG and NG groups was significantly lower than those of the CG after 12 weeks. In addition, the level of HDL-C in the VG and NG was significantly higher than that of the CG after 12 weeks. However, TC, TG and body weight between groups didn't appear significant at the end of 12 weeks. CONCLUSIONS: Aerobic exercise didn't cause differences in persons with differing beta 3-adrenergic receptor gene polymorphisms, but aerobic exercise affected the physiological change in middle-aged obese women. The findings suggest that aerobic exercise is a desirable nursing intervention for obesity control in middle-aged obese women.

Adult↗
PubMed2000

Association analysis of two tyrosine hydroxylase gene polymorphisms in normotensive offspring from hypertensive families.

OBJECTIVE: We have studied possible association between predisposition to essential hypertension, plasma noradrenaline level and two polymorphisms of the gene for tyrosine hydroxylase (TH), the rate-limiting enzyme of catecholamine biosynthesis. DESIGN AND METHODS: One hundred and one normotensive sons from normotensive parents (SN) and 107 normotensive sons of hypertensive families (SH) were studied. Tetranucleotide TCAT repeat and Va181Met polymorphisms of the TH gene were determined by polymerase chain reaction (PCR) technique. RESULTS: SH had higher systolic BP and plasma noradrenaline concentration than the SN group. No significant difference was found between the allele and genotype frequencies in the SH and SN groups for both polymorphisms. The two polymorphisms were in tight linkage disequilibrium. The CD genotype of the microsatellite marker was associated with increased plasma noradrenaline concentration in both groups. Genotypes AB, AE and BB of the TCAT repeat polymorphism and genotypes VM and MM of the Va181Met polymorphism exhibited the greatest difference in plasma noradrenaline concentration between the SH and SN groups. CONCLUSION: The studied TH polymorphisms do not appear to be associated with family history of essential hypertension. Nevertheless, some genotypes of TH might be related to disturbance of plasma noradrenaline concentration.

Adult↗
PubMed2004

Associations between HDL oxidation and paraoxonase-1 and paraoxonase-1 gene polymorphisms in families affected by familial combined hyperlipidemia.

BACKGROUND AND AIM: It has been shown in vitro that the HDL-bound enzyme paraoxonase-1 (PON1) protects LDL against oxidation, and PON1 and PON1 gene polymorphisms may affect the oxidation of HDL particles. The aim of this study was to investigate the associations between in vitro HDL oxidation parameters, endogenous PON1 and PON1 genotypes in families affected by asymptomatic FCHL. METHODS AND RESULTS: Serum arylesterase (ARE) and PON1 activities, PON1 mass, PON1 genotypes and the kinetics of CuSO4-induced HDL oxidation in vitro were measured in 150 members of FCHL families free of clinical CAD. At univariate analysis, log PON1/apoA-I and the PON1 mass/apoA-I ratio significantly correlated with lag time, maximum diene formation and the propagation rate. The oxidation parameters also correlated with PON1 genotypes. Multivariate analysis showed that the associations between PON1 mass/unit apoA-I and the oxidation parameters were independent of the other variables. The lag time of HDL oxidation was also associated with the PON1 genotype 192QR. CONCLUSIONS: Endogenous PON1 may have protective effects on the different stages of HDL oxidation in the members of families affected by FCHL. This protective effect is independent of other biochemical factors, but may be influenced by the PON1 gene polymorphism. The endogenous PON1 content of HDL seems to be an important determinant of the anti-atherogenicity of this lipoprotein.

Adult↗
PubMed2006

Lipoprotein lipase gene polymorphism at the PvuII locus and serum lipid levels in Guangxi Hei Yi Zhuang and Han populations.

BACKGROUND: Hei Yi (which means "black worship" and "black dressing") Zhuang is a specific subgroup of the Zhuang nationality in China. Little is known about the relationship between genetic factors and lipid profiles in this population. Therefore, the present study was undertaken to compare the effects of lipoprotein lipase gene polymorphism at the PvuII locus on lipid levels in the Guangxi Hei Yi Zhuang and Han populations. METHODS: A total of 325 Hei Yi Zhuang subjects aged from 20 to 80 years were surveyed using stratified randomized cluster sampling. Serum levels of lipids and apolipoproteins were measured. Gene polymorphism was determined using polymerase chain reaction and restriction fragment length polymorphism. The results were compared with those for 331 matched Han subjects living in the same district. RESULTS: Serum levels of total cholesterol, triglycerides, low-density lipoprotein cholesterol and apolipoprotein B were significantly lower in Hei Yi Zhuang than in Han subjects (p<0.05-0.01), whereas the levels of high-density lipoprotein cholesterol and the ratio of apolipoprotein A1 to apolipoprotein B were significantly higher in Hei Yi Zhuang than in Han subjects (both p<0.01). The allelic frequencies for P+ and P- were 52.92% and 47.08% in Hei Yi Zhuang, and 58.46% and 41.54% in Han subjects (p<0.05), respectively. The frequencies of P+P+, P+P- and P-P- genotypes were 23.08%, 59.69% and 17.23% in Hei Yi Zhuang, and 29.31%, 58.31% and 12.38% in Han subjects (p>0.05), respectively. There were no significant differences or no significant correlation between serum lipid parameters and genotypes in Hei Yi Zhuang or Han subjects, or for the combined population of Hei Yi Zhuang and Han (all p>0.05). CONCLUSIONS: The allelic frequencies of the lipoprotein lipase gene at the PvuII locus in Hei Yi Zhuang were different from those in Han subjects, but the genotypic frequencies in Hei Yi Zhuang subjects were not different from those in Han subjects. There was no significant correlation between polymorphism of the lipoprotein lipase gene at the PvuII site and serum lipid levels in the two ethnic groups.

Adult↗
PubMed2005

Association between mannose-binding lectin gene polymorphisms and susceptibility to severe acute respiratory syndrome coronavirus infection.

BACKGROUND: Genetic determinants of susceptibility to severe acute respiratory syndrome coronavirus (SARS-CoV) infection remain unknown. We assessed whether mannose-binding lectin (MBL) gene polymorphisms were associated with susceptibility to SARS-CoV infection or disease severity in an ethnically homogeneous population born in northern China. METHODS: The frequencies of 1 mutation in codon 54 and 3 promoter polymorphisms at nt -550, -221, and 4 were ascertained in 352 patients with SARS and 392 control subjects, by means of polymerase chain reaction direct sequencing. RESULTS: Of 352 patients with SARS and 392 control subjects, 120 (34.4%) and 91 (23.2%) were carriers of the codon 54 variant, respectively (odds ratio [OR], 1.73 [95% confidence interval {CI}, 1.25-2.39]; P=.00086). A total of 123 (36.0%) of 352 patients with SARS and 100 (25.5%) of 392 control subjects had haplotype pairs associated with medium or low expression of MBL (OR, 1.67 [95% CI, 1.21-2.29]; P=.00187). The population-attributable fraction of patients with SARS that was associated with having the codon 54 variant was 20.1% (95% CI, 7.9%-32.3%). CONCLUSIONS: MBL gene polymorphisms were significantly associated with susceptibility to SARS-CoV infection; this might be explained by the reduced expression of functional MBL secondary to having the codon 54 variant.

Alleles↗
PubMed2005

Tumor necrosis factor alpha, CYP 17, urokinase, and interleukin 10 gene polymorphisms in postmenopausal women: correlation to bone mineral density and susceptibility to osteoporosis.

OBJECTIVE: Osteoporosis is a common disorder with a strong genetic component. We investigated the correlations between bone mineral density (BMD) and four gene polymorphisms (-308G>A tumor necrosis factor alpha (TNF-alpha), -34T>C CYP 17, *141T>C urokinase, and -627C>A interleukin 10 (IL-10) promoter), and their relationship to osteoporosis in postmenopausal women. STUDY DESIGN: These polymorphisms were determined using polymerase chain reaction (PCR) followed by restriction fragment length polymorphism (RFLP) analysis. BMD of the lumbar spine and proximal femur were measured using dual-energy X-ray absorptiometry. RESULTS: The prevalence of each genotype was as follows: (1) 79.3% A/A, 16.6% A/G, and 4.1% G/G in -308G>A TNF-alpha; (2) 18.9% T/T, 52.1% T/C, and 29% C/C in -34T>C CYP 17; (3) 86.4% C/C and 13.6% C/T in *141T>C urokinase; (4) 46.2% A/A, 45% A/C, and 8.8% C/C in -627C>A IL-10 promoter. Subjects with genotype C/C in -627C>A IL-10 promoter had lower BMD values and a significantly greater risk for osteoporosis (OR 8.1, 95% CI 1.5-42.8) at the lumbar spine compared with subjects with genotype A/C in -627C>A IL-10 promoter, after adjustment for potential confounders. CONCLUSION: The RsaI IL-10 promoter gene polymorphism is associated with reduced BMD and predisposes women to osteoporosis at the lumbar spine.

Absorptiometry, Photon↗
PubMed2006

Combined effects of apoE-CI-CII cluster and LDL-R gene polymorphisms on chromosome 19 and coronary artery disease risk.

OBJECTIVE: To investigate associations of gene polymorphisms of the apoE-CI-CII gene cluster and the LDL-R gene on coronary artery disease (CAD) and their interactions with alcohol drinking and smoking in the Chinese Han population. METHODS: A questionnaire survey of the behaviors of smoking and drinking, dietary patterns and anamnesis was conducted among 203 patients of CAD, aged 65.0 +/- 11.1 years, and 365 controls, aged 63.6 +/- 12.0 years. Peripheral blood samples were colleted and the total DNA was extracted. The apoE genotypes were identified by multiplex amplification refractory mutation system (multi-AMRS), the apoCI promoter polymorphisms and AvaII polymorphisms of the apoCII and LDL-R gene were detected by using PCR-RFLP. Pairwise linkage disequilibrium coefficients (D, D') were estimated by the LINKAGE program. The interactions between genes with alcohol drinking and smoking were analyzed by using multivariate logistic regression models. RESULTS: The differences of systolic/diastolic blood pressure, total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) concentrations, smoking and drinking were significant between subjects with CAD and controls. The frequencies of apoE gene epsilon 3/4 genotype (25.9%) and epsilon 4 (13.9%) in CAD were significantly higher than those in controls (12.5% and 6.9%, respectively, p < 0.05). A significant difference was also found for the apoCI locus, the frequencies of H2 allele were 20.5% in the CAD and 11.3% in the control. Linkage disequilibrium coefficient D' was 0.672 (p < 0.01) between apoE and apoCI genes. Significant differences for a deficit of epsilon 3-H1-T1 and excess of epsilon 4-H2-T1 was found in CAD by estimation of the haplotype frequencies. After control for possible confounding factors, the multivariate logistic analysis showed that epsilon 4, H2 allele, smoking and drinking were risk factors of CAD. A significant interaction among epsilon 4, H2 and smoking was observed (OR 18.3, 95% CI: 2.35-150.81, p < 0.05), it was a multiplicative model. An additive model was shown among epsilon 4, H2 and drinking (OR12.7, 95% CI: 2.8-58.6, p < 0.05). CONCLUSION: The results suggested that both apoE and apoCI on chromosome 19 were the susceptibility locus for CAD, their linkage disequilibrium should be responsible for the development of CAD. Drinking and smoking enhance the genetic predisposition to CAD.

Adult↗
PubMedDate not supplied

CTLA-4 (CD152) gene polymorphism at position 49 in exon 1 in Graves' disease in a Polish population of the Lower Silesian region.

INTRODUCTION: Graves' disease ((GD)is an autoimmune disease believed to be caused by a combination of environmental and genetic factors. The gene encoding cytotoxic T lymphocyte-associated antigen-4 (CTLA-4)is one of the candidate genes for conferring susceptibility to thyroid autoimmunity. he aim of the study was to investigate the association between the exon 1 CTLA-4 gene polymorphism A(49)G and susceptibility to GD and Graves ' ophthalmopathy (GO)as well as its severity in a Polish population of the Lower Silesia region. MATERIALS AND METHODS: We analyzed the A(49)G exon 1 CTLA-4 gene polymorphism in 99 unrelated Polish patients with GD, of whom 50 had clinically evident GO (NOSPECS class III and higher), and 154 matched healthy subjects from the Lower Silesia region. Genomic DNA was isolated from whole frozen blood using the NucleoSpin Blood kit. A/G transition was genotyped by polymerase chain reaction followed by labeling with the SnaPshot kit of PE Applied Biosystems and detected using an ABI PRISM 310 capillary genetic analyzer. RESULTS: The distribution of CTLA-4 exon 1 A(49)G enotype, allele, and phenotypic frequencies did not differ between patients with GD and healthy subjects. There was a significantly lower frequency of the AA genotype in the group of patients with clinically evident GO than in patients without severe GO (22% vs. 43%; p=0.02, OR=2.6). CONCLUSIONS: Our results showed that the AA genotype in patients with GD is associated with a lower risk of GO severity.

Adult↗