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At least 775 records · Page 43Linked to original sources
PubMed2005

Immune response gene polymorphisms in renal transplant recipients.

BACKGROUND: T-cell activation and regulation are under genetic control and vary between individuals. However, the influence of functional immune response gene polymorphisms on transplant outcomes remains controversial. METHODS: A case-control design compared 100 white renal transplant recipients with or without acute graft rejection during the first year posttransplant and 50 normal controls. The polymorphic frequencies of the T-cell signaling genes CD45, CD40L and CTLA-4, and the cytokine genes TNF-alpha, IFN-gamma, IL-10 and TGF-beta1 were studied. The primary analysis examined rejection risk, and subsidiary analyses graft failure and patient death. RESULTS: Multivariate analysis showed no significant association between acute rejection and single nucleotide polymorphisms in CTLA-4, TGF-beta1, IL-10 or TNF-alpha genes or dinucleotide repeat polymorphisms in IFN-gamma and CD40L genes. Allele CD40L-147 was associated with reduced graft failure (P=0.004), and TGFb-25pro with increased graft failure (P=0.0007), although the latter showed a bidirectional dose effect. There was no significant association between patient death and any polymorphisms in the genes examined. The variant (G) allele of the CD45 gene was not detected in the study population. Minor differences in carriage rates observed by univariate analysis did not predict graft or patient outcome in multivariate analysis. CONCLUSION: The primary analysis demonstrated no significant association between the immune response gene polymorphisms examined and acute renal graft rejection in Caucasian patients receiving triple immunosuppression. Subsidiary analyses suggesting an influence of CD40L and TGFbeta1 genes on graft survival require independent confirmation.

Amino Acid Substitution↗
PubMed2005

Glutathione-S-transferase P1 gene polymorphism and susceptibility to endometriosis.

BACKGROUND: Glutathione-S-tranferase (GST) is the part of the key phase II detoxifying enzyme system. Many studies have investigated the role of GSTM1 and GSTT1 gene polymorphisms in endometriosis. Although GSTP1 was found to be one of the most abundant types of GST in genital system, there are insufficient data about the importance of the role of GSTP1 gene polymorphism in endometriosis. METHODS: This case-control study involved 150 patients with endometriosis and 150 controls. The frequency of GSTP1 single nucleotide polymorphisms was evaluated using PCR and melting curve analysis. RESULTS: The proportion of GSTP1 ile/ile tended to be higher in patients with endometriosis than control group, although the difference was not significant [odds ratio (OR)=1.53; 95% confidence interval (CI)=0.95-2.46]. In contrast, GSTP1 val/val was significantly higher in control patients and seems protective for endometriosis (OR=0.10; 95% CI=0.02-0.42). CONCLUSION: The results of this study suggest that GSTP1 polymorphism might modulate the risk of endometriosis with significantly decreased risk for GSTP1 val/val and marginally increased risk for GSTP1 ile/ile. Further studies on not only the disease processes but also normal distribution of the enzyme in female genital tract may provide better understanding about the role of GST types and their polymorphs in endometriosis.

Adult↗
PubMed2006

IL-8 (-251 A/T) and CXCR2 (+1208 C/T) gene polymorphisms and risk of multiple sclerosis in Iranian patients.

IL-8 plays important roles in CNS development, modulation of neuronal survival and excitability. Among IL-8 receptors, only CXCR2 is known to be present in the brain. The ability of individuals in producing IL-8 is partially determined by IL-8 -251 A/T polymorphism. Therefore, the aim of the present study was to investigate the association between IL-8 -251 A/T and CXCR2 +1208 C/T gene polymorphisms and susceptibility to multiple sclerosis (MS). Two hundred and twenty-three MS patients and 319 healthy and ethnic matched controls were included in this study. IL-8 promoter (-251 A/T) and CXCR2 (+1208 C/T) gene polymorphisms were genotyped via allele specific PCR (AS-PCR) method. A significant difference was found in IL-8 -251 A/T polymorphism between MS patients and controls (p = 0.04). This deference was a result of a higher incidence of the low producer allele of IL-8 (T allele) in MS patients compared to controls. However, there was no significant association between different clinical findings (EDSS score, progression index, disease onset age, and the type of disease) and IL-8 -251 A/T polymorphism. Furthermore, no significant association existed between CXCR2 +1208 C/T polymorphism and MS susceptibility or different clinical parameters in patients. In summary, carriers of IL-8 -251 T allele may have increased susceptibility to MS because of their differences in neuron survival or increased chances of viral persistence compared to carriers of A allele.

DNA Primers↗
PubMed2002

[Association between alpha-1-antichymotrypsin gene polymorphism and cerebral hemorrhage].

OBJECTIVE: To explore the association between alpha-1-antichymotrypsin (ACT) gene A/T polymorphism and cerebral hemorrhage among Chinese people. METHODS: The DNA of peripheral leucocytes was extracted from 220 patients with cerebral hemorrhage and 276 controls. PCR- RELP was used to determine the ACT gene polymorphism. Multiple Logistic regression was performed to explore the risk factors for cerebral hemorrhage. RESULTS: After adjusting age, gender, alcohol drinking, smoking, education,history of diabetes mellitus and primary hypertension, the analysis showed: (1) the ACT AT and TT genotypes increased the risk of cerebral hemorrhage (OR = 2.33 and 2.17 respectively, P < 0.05), but were not associated with primary hypertension. Such association was more prevalent in hypertensive cerebral hemorrhage. (2) Primary hypertension significantly increased the risk of cerebral hemorrhage (OR = 8.17 P = 0.000). (3) A significant gene environment interaction, super multiplicative type 4 interaction, was shown between both ACT AT and TT genotypes and primary hypertension with an interaction index (r) value of 2.84 and an OR value of 15.92. A significant additive type 3 gene-environment interaction was shown between both ACT AT and TT genotypes and diabetes mellitus with an OR value of 2.89. CONCLUSION: ACT gene polymorphism and primary hypertension are both independent risk factors of cerebral hemorrhage. The ACT AT and TT genotypes show a significant gene-environment interaction, however, of different types, with both primary hypertension and diabetes mellitus in the occurrence of cerebral hemorrhage.

Adult↗
PubMedDate not supplied

Correlation of factor VIIa values with factor VII gene polymorphism, fasting and postprandial triglyceride levels, and subclinical carotid atherosclerosis.

BACKGROUND: Factor VII plays a pivotal role in coagulation. Factor VIIc levels were reported to be a risk factor for fatal coronary heart disease (CHD). Factor VIIc and VIIag levels were noted to be positively associated with plasma triglyceride (TG) levels and influenced by a VII gene polymorphism. The purpose of this study is to determine whether these associations are related to activated factor VII (factor VIIa). METHODS AND RESULTS: Fasting and 3.5-hour postprandial samples from 216 cases with subclinical atherosclerosis and 341 matched controls selected from the ARIC cohort were assayed for levels of factors VIIa, VIIc, and VIIag and TG, and factor VII codon 353 gene polymorphism. The level of factor VIIa was higher in Arg/Arg than in Arg/Gln+Gln/Gln genotypes, and the difference was in accord with that of factors VIIag and VIIc. However, the factor VIIa difference was statistically insignificant. Factor VIIa values were not correlated with fasting or 3.5-hour postprandial TG levels, nor were they associated with subclinical atherosclerosis. CONCLUSIONS: Factor VIIa levels, like factor VIIag and VIIc levels, are influenced by factor VII gene codon 353 polymorphism. However, unlike factor VIIag or VIIc, factor VIIa is not influenced by TG levels; none of these is associated with subclinical atherosclerosis.

Arteriosclerosis↗
PubMed2002

Angiotensin-converting enzyme gene polymorphism and coronary heart disease in Turkish type 2 diabetic patients.

OBJECTIVE: It has been suggested that the insertion (I)/deletion (D) polymorphism of the angiotensin-converting enzyme (ACE) may be associated with atherosclerosis. The aim of the study was to examine the association between ACE gene polymorphism and coronary heart disease in Turkish type 2 diabetic patients. METHODS AND RESULTS: A total of 152 (97 female, 55 male) type 2 diabetic patients were included into the study. All patients underwent myocardial perfusion scintigraphic examination and forty-five of them with a perfusion defect underwent coronary angiography.Thirty-eight patients with a coronary stenosis of more than 50% on coronary angiography were considered as having coronary heart disease. The I/D polymorphism was determined by polymerase chain reaction. There was no statistically significant difference in genotypic and allelic frequencies of the ACE I/D polymorphism among patients with and without coronary heart disease (DD:ID:II (%), 32:58:11 and 39:44:17, respectively). CONCLUSIONS: ACE gene polymorphism is not a significant parameter to determine coronary heart disease in Turkish type 2 diabetic patients.

Coronary Disease↗
PubMed2005

Correlation of estrogen receptor beta gene polymorphisms with spinal bone mineral density in peri- and post-menopausal Greek women.

Estrogens play a significant role in bone physiology. Their action is mainly exerted through their receptors. Estrogen receptor alpha (ERalpha) plays a major role in bone homeostasis and there is evidence suggesting that estrogen receptor beta (ERbeta) has also an effect on BMD. We investigated the possible effect of two ERbeta gene polymorphisms on spinal bone mineral density (BMD) and metabolic bone markers in Greek women. Spine BMD as well as biochemical bone markers were measured in 147 healthy peri- and post-menopausal women [mean age (S.D.) 54 (7.9) years]. Genotyping was performed for two restriction fragment length polymorphisms (RFLPs) of ERbeta gene, RsaI in exon 5 and AluI in exon 8. For each polymorphism studied the cohort was divided into two groups: the "wild-type" group (RR and AA, respectively) and the "carrier" group including subjects with at least one allele with the restriction site (Rr&rr and Aa&aa, respectively). The distribution of RsaI genotypes was RR: 91.2% (n = 134), Rr: 8.2% (n = 12), and rr: 0.6% (n = 1) and of AluI genotypes AA: 36.7% (n = 54), Aa: 57.2% (n = 84), and aa: 6.1% (n = 9). No linkage disequilibrium was found between the two polymorphic sites studied. Spine BMD did not differ significantly in the two groups of either polymorphism, after adjusting for age, weight, height, and years since menopause [mean BMD (S.D.) for RR 0.841 (0.17) g/cm(2) versus Rr&rr 0.798 (0.13) g/cm(2), p = 0.25, and mean BMD (S.D.) for AA 0.828 (0.16)g/cm(2) versus Aa&aa 0.848 (0.17) g/cm(2), p = 0.32]. No significant differences were noted in metabolic bone markers except for a marginal difference of RR versus Rr/rr in urinary hydroxyproline/creatinine ratio [median (IQR) 3.88 (6.04) micromol/mmol in RR versus 8.2 (4.32) micromol/mmol in Rr/rr, p = 0.05]. Furthermore, no interaction between the two polymorphisms on BMD was found. In conclusion, in a Greek female post-menopausal population, the two ERbeta gene polymorphisms were not associated with BMD, or metabolic bone markers.

Absorptiometry, Photon↗
PubMed1999

Variant angina is not associated with angiotensin I converting enzyme gene polymorphism but rather with smoking.

BACKGROUND: Angiotensin converting enzyme (ACE) perhaps plays roles in regulating coronary vasomotor tone by producing angiotensin II and degrading bradykinin. OBJECTIVES: We sought to investigate the role of ACE gene polymorphism in the pathogenesis of variant angina and to compare it with that of other clinical risk factors for male patients with variant angina and age-matched and sex-matched control subjects. METHODS: We studied 78 male patients with variant angina who exhibited spontaneous or provoked coronary spasms during coronary angiography and compared prevalences of ACE gene genotype (deletion D and insertion I) and other risk factors between this group of patients with variant angina and age-matched and sex-matched control subjects whose angiograms were normal and in whom the ergonovine test did not cause spasms (n = 80). RESULTS: Smokers were more prevalent in the group of patients with variant angina (P < 0.05). Genotype and allele prevalences of the group of patients with variant angina (0.14, 0.53 and 0.33 for DD, DI and II and 0.41 and 0.59 for D and I, respectively) were no different from those of the control group (0.16, 0.49 and 0.35 for DD, DI and II and 0.40 and 0.60 for D and I). Multiple logistic regression analysis showed that smoking was a significant risk factor for variant angina (odds ratio 2.61, 95% confidence interval 1.03-6.66) whereas ACE genotype was not. CONCLUSIONS: Variant angina is associated with an environmental factor, such as smoking, rather than a genetic factor, such as ACE gene polymorphism.

Aged↗
PubMed2000

Lack of association of angiotensin-converting enzyme and angiotensinogen genes polymorphisms with left ventricular structure in young normotensive men.

Left ventricular (LV) hypertrophy is a strong predictive factor for cardiovascular morbidity and mortality. LV structure and function are influenced by many variables, including genetic background. The potential role of gene polymorphisms of different components of the renin angiotensin system remains controversial. The aim of this study was to determine the influence of deletion/insertion (D/I) polymorphism of the angiotensin-converting enzyme (ACE) gene and M235-->T polymorphism of the angiotensinogen (AG) gene on left ventricular morphology and function in young normotensive men. The study included 110 normotensive healthy males (mean age 24 +/- 4 years, age range 18 to 34 years) who were assessed by echocardiography for LV structure and function. In all subjects ACE D/I polymorphism was evaluated using a polymerase chain reaction (PCR) method. M235-->T polymorphism assessment was available in 98 individuals. Significant differences between groups according to ACE I/D or AG M235-->T polymorphisms were not found for parameters of LV morphology or for parameters of systolic and diastolic function. When subjects with DD or ID genotypes were grouped, their LV mass index was higher than that in subjects with II genotypes (86 +/- 14 vs 79 +/- 15, r = 0.033, p = 0.05). There were no significant differences among other variables. In a population of young normotensive men where the influence of confounding variables such as age, gender and associated pathological conditions is minimized, the gene polymorphisms of ACE I/D and AG M235-->T are not important determinants of LV structure and function.

Adult↗
PubMed2006

Endothelial nitric oxide synthase G894T gene polymorphism in Chilean subjects with coronary artery disease and controls.

BACKGROUND: Nitric oxide (NO) from the endothelium, produced by oxidation of l-arginine to L-citruline for the action at the endothelial nitric oxide synthase (eNOS), is considered an important atheroprotective factor. The Glu298Asp (G894T) polymorphic variant of the eNOS gene has been implicated in the development of coronary artery disease (CAD). We investigated the association between occurrence of CAD documented by angiography and the G894T polymorphism of the NOS3 gene in Chilean individuals. METHODS: A total of 112 unrelated patients with diagnosis of CAD and 72 controls were included in this study. G894T gene polymorphism was analyzed by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). RESULTS: The frequency of TT homozygous genotype for G894T polymorphism was 7% in CAD patients and 1% in the control group. However, the genotype distribution and allele frequencies were not significantly different between CAD and control subjects (P>0.05). Moreover, the odds ratio for CAD associated with the T variant failed to reach statistical significance (OR=1.5; 95% CI: 0.87-2.59, P>0.05). CONCLUSION: These findings suggest that the G894T polymorphism of the eNOS gene was not associated with CAD in Chilean individuals.

Adult↗
PubMed2001

NOTCH4 gene polymorphism and susceptibility to schizophrenia and schizoaffective disorder.

The NOTCH4 gene is located at 6p21.3, a site which several studies have shown to have significant linkage with schizophrenia. Recently, an exceptionally strong association was reported between NOTCH4 gene polymorphisms and schizophrenia in British patients. We re-examined their findings using a Japanese population. We genotyped three kinds of polymorphisms, SNP1 in the 5' flanking region, SNP2 in the promoter region and CTG repeats in exon 1 of the NOTCH4 gene of schizophrenics (N=188), patients with schizoaffective disorder (N=39) and controls (N=143). Genotypic distributions and allelic frequencies of SNP1, SNP2 and CTG repeats of the NOTCH4 gene did not show significant associations with schizophrenia or schizoaffective disorder. Neither they showed association with schizophrenia subcategories, hebephrenic and paranoid type schizophrenia, nor with subgroups of schizophrenia with and without positive family history of psychoses. The present study found that the NOTCH4 gene does not confer susceptibility to schizophrenia and schizoaffective disorders, at least in Japanese subjects, in contrast to the findings in British subjects.

Adult↗
PubMed2003

[Association between tryptophan hydroxylase gene polymorphisms and attention deficit hyperactivity disorder with or without learning disorder].

OBJECTIVE: To investigate the relationship between two tryptophan hydroxylasec (TPH) gene polymorphisms, A218C and A-6526G polymorphisms, and attention deficit hyperactivity disorder (ADHD) with or without learning disorder (LD). METHODS: Blood samples were taken from 132 trios with probands of ADHD with LD and 221 trios with probands of ADHD without LD. DNA was extracted and PCR was performed to amplify the fragments of A218C amd A-6526G polymorphisms. NheI and MboI were used to detect different alleles of the two polymorphisms separately. transmission disequilibriumtest (TDT) and haplotype analysis were used to test the association of the two polymorphisms of TPH gene and ADHD with or without LD. RESULTS: Haplotype block composed by A218C and A-6526G polymorphisms was related to ADHD with LD (chi(2) = 9.362, df = 3, P = 0.025). The haplotype of 218A/-6526G was significantly untransmitted to the probands with ADHD with LD (chi(2) = 9.252, df = 1, P = 0.002). CONCLUSION: TPH gene and the haplotype of 218A/-6526G may be related to ADHD with LD.

Adolescent↗
PubMed2005

Estrogen receptor alpha dinucleotide repeat and cytochrome P450c17alpha gene polymorphisms are associated with susceptibility to endometriosis.

OBJECTIVE: To investigate the association of endometriosis with estrogen receptor alpha (ER alpha) and cytochrome P450c17alpha (CYP17) gene polymorphisms in light of the fact that estrogen plays a role in the pathogenesis of endometriosis and the CYP17 enzyme is involved with estrogen biosynthesis. DESIGN: Prospective study. SETTING: Genetics and gynecology units. PATIENT(S): All patients were divided into two groups: group 1, women with endometriosis (n = 119); group 2, normal controls (n = 108). INTERVENTION(S): A dinucleotide (thymine-adenine [TA]) repeat polymorphism lying upstream of the ER alpha gene and A1/A2 polymorphism of the CYP17 gene were amplified by polymerase chain reaction, enzyme restriction, and electrophoresis. MAIN OUTCOME MEASURE(S): The ER genotypes were classified into A through T (TA repeats, 10-29). The CYP17 genotypes included indigestible (A1 homozygote), heterozygote, and digestible (A2 homozygote). We compared these polymorphism distributions in both groups. RESULT(S): The percentage of genotypes D-G (TA, 13-16) in both groups were 10.5%, 29.4%, 13.0%, and 11.3% in group 1 and 7.9%, 16.7%, 19.9%, and 17.6% in group 2. The genotype E (14 TA repeats) is associated with a higher risk of endometriosis. Proportions of A1 homozygote/heterozygote/A2 homozygote for CYP17 were 26.1%/46.2%/27.7% for group 1 and 14.8%/44.5%/40.7% for group 2, respectively. The A1 homozygote and allele were associated with a higher susceptibility of endometriosis. CONCLUSION(S): ER alpha* 14 TA repeats and the CYP17* A1 allele are associated with an increased risk of endometriosis. Both polymorphisms are useful markers for predicting endometriosis susceptibility.

Dinucleotide Repeats↗
PubMed2001

[The relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia].

OBJECTIVE: To study the relationship of low density lipoprotein receptor gene polymorphism and hyperlipidemia in the population with essential hypertension. METHODS: People with different lipid levels including 107 hyperlipidemia, 104 at margin level and 108 normal were recruited in the study. Their polymorphisms of LDL-R gene were analyzed using PCR-RFLP. RESULTS: There were three kinds of genotype: (+/+), (+/-), (-/-). In male, the frequencies of the (+/-) in three study groups were shown as follows: 41.18% in hyperlipidemia, 46.15% in margin level, 19.05% in normal lipid. The frequency of (+) allele was significantly higher in hyperlipidemia than that in normal lipid (24.51%, 25.00% and 11.11%, respectively). In women, the differences were not statistically significant. The nonconditional univariate and multivariate logistic regression analysis demonstrated that (+) allele of Ava II polymorphism of LDL-R was a genetic marker of male's hypercholesterolemia. CONCLUSIONS: The frequency of (+/-) hyperlipidemia in males was higher than that in normal lipid group and the (+) allele in male hyperlipidemia was significantly more frequent seen than that in normal lipid group. These results suggested that polymorphisms of LDL-Rgene might play an independent role of risk factor for hyperlipidemia.

Female↗
PubMed1999

Hypertensive left ventricular remodeling and ACE-gene polymorphism.

OBJECTIVE: To evaluate the relationship between ACE-gene polymorphism and left ventricular geometry in never treated hypertensives. METHODS: We enrolled 200 hypertensive outpatients that underwent clinical and ambulatory blood pressure measurements, echocardiographic evaluation and analysis for insertion (I)/deletion (D) polymorphism by PCR. Patients with normal or increased (> 125 g/m2 in males and > 110 g/m2 in females) left ventricular mass were considered to have concentric remodeling or concentric left ventricular hypertrophy if their relative wall thickness was > or = 0.45. RESULTS: The left ventricular mass index values (g/m2) were 136 +/- 30 in DD genotype, 124 +/- 26 in ID genotype, and 116 +/- 20 in II genotype (DD vs. ID P < 0.005; DD vs. II P < 0.05), and were unrelated to blood pressure. Ninety-six patients presented left ventricular hypertrophy (48.0%): 51 with concentric and 45 with eccentric hypertrophy. The eccentric left ventricular hypertrophy was detected in 32 (36.8%) DD patients, in ten (10.5%) ID patients (P < 0.05), and in three (16.6%) II patients. The relative septal thickness was 0.43 +/- 0.09 in DD genotype, 0.45 +/- 0.08 in ID genotype, and 0.43 +/- 0.10 in II genotype. In DD and ID genotypes, the relative posterior wall thickness (0.37 +/- 0.07 vs. 0.41 +/- 0.07; P < 0.0001) and the end-diastolic left ventricular internal dimension (52.8 +/- 3.3 mm vs. 48.3 +/- 2.8 mm; P < 0.0001) were statistically different. CONCLUSIONS: The DD genotype of the ACE-gene is associated with an increased left ventricular mass and with a significantly higher prevalence of eccentric left ventricular hypertrophy, when compared to ID genotype.

Age Factors↗
PubMed2001

Association of gene polymorphism of polymeric immunoglobulin receptor and IgA nephropathy.

OBJECTIVE: In order to explore the possibility that genetic predisposition to dysfunction of mucosal immunity and the IgA processing pathway plays a role in the pathogenesis of mesangial IgA1 deposition in IgAN, we examined the possible association of the gene polymorphism of pIgR in the patients with and without IgAN. SUBJECTS AND METHODS: Genomic DNA of peripheral blood cells was isolated from 372 individuals including 172 histologically confirmed IgAN patients. Segments of the pIgR gene were PCR amplified and restriction fragment length polymorphism was determined as A1 and A2 with and without Pvu II site, respectively. RESULTS: The pIgR genotype distribution was significantly different between the patients with IgAN and those without IgAN. Allele frequency of A2 was higher in IgAN than in other renal diseases (A1 and A2; 0.516 and 0.484 in IgAN, 0.641 and 0.359 in others, chi2 = 9.84, P = 0.0017, Odds ratio = 1.71). Moreover, the subjects with A2A2 genotype were associated with a relatively low level of serum IgA only in the patients with IgAN but not in other renal diseases. The difference of allele frequencies was more remarkable in the patients with a serum IgA level of less than 300 mg/dl (A1 and A2; 0.439 and 0.561 in IgAN, 0.702 and 0.298 in others, chi2 = 12.44, P = 0.0004, Odds ratio = 3.01). CONCLUSION: This is the first demonstration of the pIgR gene polymorphisms in IgAN which are associated with its clinical phenotype. Gene polymorphisms of pIgR may be candidate genetic markers of susceptibility to IgAN.

Alanine↗
PubMed2006

Gene polymorphisms implicated in influencing susceptibility to venous and arterial thromboembolism: frequency distribution in a healthy German population.

Evolvement and progression of cardiovascular diseases affecting the venous and arterial system are influenced by a multitude of environmental and hereditary factors. Many of these hereditary factors consist of defined gene polymorphisms, such as single nucleotide polymorphisms (SNPs) or insertion-deletion polymorphisms, which directly or indirectly affect the hemostatic system. The frequencies of individual hemostatic gene polymorphisms in different normal populations are well defined. However, descriptions of patterns of genetic variability of a larger extent of different factors of hereditary hypercoagulability in single populations are scarce. The aim of this study was i) to give a detailed description of the frequencies of factors of hereditary thrombophilia and their combinations in a German population (n = 282) and ii) to compare their distributions with those reported for other regions. Variants of coagulation factors [factor V 1691G>A (factor V Leiden), factor V 4070A>G (factor V HR2 haplotype), factor VII Arg353Gln, factor XIII Val34Leu, beta-fibrinogen -455G>A, prothrombin 20210G>A], coagulation inhibitors [tissue factor pathway inhibitor 536C>T, thrombomodulin 127G>A], fibrinolytic factors [angiotensin converting enzyme intron 16 insertion/deletion, factor VII-activating protease 1601G>A (FSAP Marburg I), plasminogen activator inhibitor 1-675 insertion/deletion (5G/4G), tissue plasminogen activator intron h deletion/insertion], and other factors implicated in influencing susceptibility to thromboembolic diseases [apolipoprotein E2/E3/E4, glycoprotein Ia 807C>T, methylenetetrahydrofolate reductase 677C>T] were included. The distribution of glycoprotein Ia 807C>T deviated significantly from the Hardy-Weinberg equilibrium, and a comparison with previously published data indicates marked region and ethnicity dependent differences in the genotype distributions of some other factors.

Arterial Occlusive Diseases↗
PubMed2006

[Cardiovascular diseases and gene polymorphisms].

Cardiovascular diseases rank among the most important mortality causes in the Czech population. Although the unhealthy living style plays a key role in their development and progression, impacts of the hereditary predisposition can not be denied. This article characterizes the gene polymorphisms and results of mutations in general. An overview of the most important findings presented in papers published in the Czech Republic and worldwide follows. Issues of concrete gene polymorphism associations with such pathological conditions as acute or chronic heart failure, essential hypertension or heart rhythm disorders are discussed. Attention is paid to genes that participate on beta-adrenergic signalling, to genes for angiotensin, to ACE-gene and to angiotensin II receptor gene. A table summarizing the most important data is attached to the article.

Angiotensinogen↗