BACKGROUND: Chronic venous disease (CVD) is a common disorder of lower extremities. OBJECTIVES: The study was scheduled to investigate the relationship between polymorphisms in major proinflammatory genes TNF α (-238 A/G; -308 A/G), TNF β (NcoI), IL-1β (+3953 T/C); IL-6 (-174 G/C; -596 G/C) and ADAM17 (3'TACE) and CVD risk. Genotype-phenotype study was calculated to test possible association between examined genotypes and phenotypes of CVD. METHODS: Finally, 150 CVD patients and 227 control subjects were enrolled to the study. Genotypes in proinflammatory gene polymorphisms were identified from isolated DNA by PCR method and restriction analysis. RESULTS: Significant differences in genotype distribution/allelic frequencies in TNF β gene, IL-1 β gene and in ADAM17 gene polymorphisms were found between CVD women and control ones. In the genotype-phenotype study, identified genotypes were associated with arterial hypertension (ADAM17, IL-6-men), ischaemic heart disease (TNF α and β genes), diabetes mellitus (ADAM17-women, TNF β-men), age of CVD onset (TNF α and IL-6), ulceration (ADAM17), duration of ulceration (ADAM17), ulceration recurrence (ADAM17-women), home care necessity (TNF α), varices surgery (TNF α), erysipelas development (ADAM17-men) and tumour development (TNF α). CONCLUSION: Studying of these polymorphisms associations can help us better identify patients at higher risk of developing severe CVD.

• MeSH
• chronická nemoc MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• interleukin-1beta genetika   MeSH
• interleukin-6 genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• kardiovaskulární nemoci * genetika   MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• protein ADAM17 genetika   MeSH
• TNF-alfa * genetika   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• ADAM17 protein, human MeSH Prohlížeč
• interleukin-1beta MeSH
• interleukin-6 MeSH
• lymfotoxin-alfa MeSH
• protein ADAM17 MeSH
• TNF-alfa * MeSH

BACKGROUND: The aim of this study was to investigate possible associations of the five DNA polymorphic genotypes in the HLA region (transporter associated with antigen processing [TAP1; TAP1 333 a/b, TAP1 637 c/d], the HLA-DRB1*1501-rs3135388, tumor necrosis factor [TNF]α [-238 G/A] and NcoI TNFβ) with characteristics of family history in patients with psoriasis vulgaris. MATERIALS AND METHODS: A total of 201 Czech patients with psoriasis were enrolled in the study. The patients were genotyped for the five common polymorphisms in TAP1, TNFα, and TNFβ genes (6p21.3) using the polymerase chain reaction-restriction fragment length polymorphism-based methodology. RESULTS: We observed significantly higher prevalence of Ile333Ile TAP1 allele in patients whose first-degree relatives had a positive family history of psoriasis (Pa = 0.04). No differences related to family history of psoriasis were observed in HLA-DRB1*1501 polymorphism. As for the TNFα (-238 G/A) polymorphism, a significant increase of the GG genotype was observed in patients, especially men with second- and third-degree relatives with psoriasis (Pg = 0.008). Similarly, the B2B2 genotype of NcoI TNFβ polymorphism was more frequent in psoriatic patients, especially women, whose second- and third-degree relatives had psoriasis (Pg = 0.004). Finally, the haplotype analysis of all five polymorphisms revealed that the frequency of haplotype bcCB1A was different between not only men and women with psoriasis (P = 0.007) but also between men and women without a family history of psoriasis (P = 0.007). CONCLUSIONS: Haplotype association of HLA gene polymorphisms with genealogy aspects of psoriasis facilitates a better understanding of etiopathogenetic aspects of the diseases.

• MeSH
• ABC transportéry genetika   MeSH
• dospělí MeSH
• genetická predispozice k nemoci epidemiologie   genetika   MeSH
• haplotypy MeSH
• HLA-DRB1 řetězec genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• peptidový transportér TAP1 MeSH
• polymorfismus délky restrikčních fragmentů MeSH
• polymorfismus genetický MeSH
• psoriáza epidemiologie   genetika   MeSH
• rizikové faktory MeSH
• senioři MeSH
• TNF-alfa genetika   MeSH
• zdraví rodiny MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• ABC transportéry MeSH
• HLA-DRB1 řetězec MeSH
• HLA-DRB1*15:01 antigen MeSH Prohlížeč
• lymfotoxin-alfa MeSH
• peptidový transportér TAP1 MeSH
• TAP1 protein, human MeSH Prohlížeč
• TNF-alfa MeSH

OBJECTIVE: Lactate levels after cardiac surgery are influenced by different proinflammatory (TNF, IL-6, IL-8) and anti-inflammatory (IL-10) cytokines. The goal of the study was to determine the relationship between polymorphism in the IL-10 (-1082G/A) and TNF-beta (+252G/A) genes and lactate levels in patients after cardiac surgery. METHODS: We performed prospective observational study in 168 consecutive adult patients without left ventricle dysfunction undergoing elective coronary artery bypass grafting. Lactic acid levels were documented at five different time points: 10 min after beginning of cardiopulmonary bypass, 40 min after cardiopulmonary bypass termination, and 30 min, 8h, and 16 h after the surgery. Genetic analysis for polymorphism was performed by mismatched polymerase chain reaction and restriction analysis. RESULTS: No association was found between single polymorphism in IL-10 or TNF-beta gene and lactate levels, but the carriers of IL-10/TNF-beta genotype combination +A/GG had significantly different course of lactate levels in time with decrease in lactate (in comparison with increase in other groups) at 8h after the surgery. CONCLUSIONS: IL-10 (-1082G/A) and TNF-beta (+252G/A) gene polymorphisms have a little, yet measurable influence on the time course of changes in lactate levels after cardiac surgery.

• MeSH
• biologické markery krev   MeSH
• dospělí MeSH
• frekvence genu MeSH
• funkce levé komory srdeční MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• interleukin-10 genetika   MeSH
• koronární bypass * MeSH
• kyselina mléčná krev   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• mediátory zánětu krev   MeSH
• polymorfismus genetický * MeSH
• pooperační období MeSH
• prospektivní studie MeSH
• senioři MeSH
• zánět krev   genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• biologické markery MeSH
• interleukin-10 MeSH
• kyselina mléčná MeSH
• lymfotoxin-alfa MeSH
• mediátory zánětu MeSH

OBJECTIVE: A role of autoreactive T cells for type 1 diabetes pathogenesis is considered crucial. In our pilot study we addressed if autoreactive mononuclear cells are present also in peripheral blood of patients with other specific forms of diabetes as cystic fibrosis related diabetes (CFRD). METHODS: Cellular immune responses to a known beta-cell autoantigen (GAD65 and GAD65 derived peptides) were analysed by ELISPOT (IFN-gamma) and by protein microarray analysis in four patients suffering from CFRD, in four cystic fibrosis (CF) patients without diabetes, in eight type 1 diabetes patients (without CF) and in four healthy controls. RESULTS: Response to the autoantigen GAD65 (protein and peptides) was observed in 7/8 patients suffering from CF and in all type 1 diabetes patients. Post-stimulation production of Th1 cytokines (IFN-gamma, TNF-beta) was observed in 2/4 CFRD, 1/4 CF patients and in 7/8 type 1 diabetes patients. All these patients carry prodiabetogenic HLA-DQ genotype. Th2- and Th3 type of cytokine pattern was observed in 2/4 CF patients. Production of IL-8 was observed in the third CFRD as well as in the third CF patient and in 1/8 type 1 diabetes patient and borderline production of this chemokine was also observed in 2/4 healthy controls. No reaction was observed in the other 2/4 healthy controls and in the fourth CFRD patient who carried a strongly protective genotype and did not produce autoantibodies. The most potent peptide of GAD65 was amino acids 509-528. CONCLUSIONS: We consider our observations as a sign of a reaction directed against the self-antigen GAD65 that are closely connected to type 1 diabetes. In CF patients who do not develop diabetes autoreactive mechanisms are very probably efficiently suppressed by immune self-tolerance mechanisms. CFRD patients are a heterogenic group. To disclose those who may display features of autoimmune diabetes could have an impact for their therapy and prognosis.

• MeSH
• autoprotilátky krev   imunologie   MeSH
• čipová analýza proteinů MeSH
• cystická fibróza komplikace   imunologie   MeSH
• diabetes mellitus etiologie   imunologie   MeSH
• dítě MeSH
• dospělí MeSH
• glutamát dekarboxyláza imunologie   MeSH
• HLA-DQ antigeny imunologie   MeSH
• interferon gama krev   MeSH
• interleukin-8 krev   MeSH
• izoenzymy imunologie   MeSH
• leukocyty mononukleární imunologie   MeSH
• lidé MeSH
• lymfotoxin-alfa krev   MeSH
• mladiství MeSH
• pilotní projekty MeSH
• Check Tag
• dítě MeSH
• dospělí MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• autoprotilátky MeSH
• glutamát dekarboxyláza MeSH
• glutamate decarboxylase 2 MeSH Prohlížeč
• HLA-DQ antigeny MeSH
• interferon gama MeSH
• interleukin-8 MeSH
• izoenzymy MeSH
• lymfotoxin-alfa MeSH

Sarcoidosis is a granulomatous disorder showing a clear association with MHC (HLA) class I and class II genes. In order to investigate whether polymorphisms of nearby pro-inflammatory genes located within the MHC class III region may also contribute to susceptibility to sarcoidosis or to its clinical manifestation, tumour necrosis factor-alpha (TNF-alpha) and lymphotoxin-alpha (LT-alpha) genes were chosen for analysis in a case-control association study. In order to evaluate the findings on the TNF-alpha and LT-alpha genes in connection with the closely linked MHC class II region, 'classical' HLA-DRB1 locus was also investigated. Polymerase chain reaction-based methodologies were used in order to characterize two single-nucleotide polymorphisms (TNF-308*G/A and LTAlpha+252*A/G) and HLA-DRB1 allele groups in 114 Czech patients with pulmonary sarcoidosis and 425 healthy controls. LTA+252*G and HLA-DRB1*13 allele carriers were more frequent in patients, compared to those in controls. By contrast, HLA-DRB1*07 carriers were less frequent among sarcoidosis patients. The overrepresentation of TNF-308*A, LTAlpha+252*G and HLA-DRB1*03 allele carriers was found in a subgroup of sarcoidosis patients presenting with Lofgren's syndrome (LS) by comparison with the subgroup of patients without LS (NLS; phenotype frequency LS vs NLS: 68.8 vs 37.1% for TNF-308*A, 93.8 vs 66.3% for LTA+252*G and 68.8 vs 21.3% for DRB1*03). The data suggest that the LTAlpha and HLA-DRB1 genes themselves or a gene located nearby contributes to the susceptibility to sarcoidosis and that TNF-308*A, LTA+252*G and HLA-DRB1*03 alleles are associated (directly or via linkage with unknown causative locus) with LS as a specific manifestation of the disease.

• MeSH
• dospělí MeSH
• genetická predispozice k nemoci MeSH
• HLA-DR antigeny genetika   MeSH
• HLA-DRB1 řetězec MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• mladiství MeSH
• plicní sarkoidóza komplikace   genetika   MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• studie případů a kontrol MeSH
• syndrom MeSH
• TNF-alfa genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• HLA-DR antigeny MeSH
• HLA-DRB1 řetězec MeSH
• lymfotoxin-alfa MeSH
• TNF-alfa MeSH

BACKGROUND: Periodontitis is an inflammatory disease that leads to irreversible attachment loss, bone destruction and eventually tooth loss. Tumor necrosis factor (TNF), a pluripotent proinflammatory cytokine that is able to induce tissue destruction and bone resorption, has been implicated in the pathogenesis of periodontal disease. METHODS: In this study, we investigated an association between chronic periodontitis and two previously described bi-allelic polymorphisms in the TNF locus: a G to A transition at position -308 in the 5'promoter region of the TNF-alpha gene and an NcoI restriction fragment length polymorphism (RFLP) in the first intron (position +252A/G) of the lymphotoxin alpha (LT-alpha) gene. Genomic DNA was obtained from 132 patients with chronic periodontitis together with 114 age- and gender-matched unrelated control subjects. RESULTS: The TNF-alpha (-308G/A) polymorphism itself showed no association with chronic periodontitis, whereas the frequency distribution of the LT-alpha (+252A/G) genotypes showed statistically significant differences between patients and the reference group. The proportion of individuals carrying the LT-alpha 1/1 genotype was significantly lower in the group of patients with chronic periodontitis (0.8%) than in the control group (8.8%) (P < 0.0094, Pcorr < 0.05). However, the significant differences in the frequencies of the combined genotypes (TNF-alpha and LT-alpha) between the control and the patient groups were found using a simulation by applying the Monte-Carlo method (P < 0.01). CONCLUSION: Our data suggest that combined genotypes composed of the TNF-alpha and LT-alpha gene polymorphisms may influence the susceptibility to chronic periodontitis. We also showed that, comparing the two genes, the 1/1 genotype of the NcoI polymorphism in the first intron of the LT-alpha gene is a more informative marker and it may be one of the protective genetic factors against chronic periodontitis in our population.

• MeSH
• adenin MeSH
• běloši genetika   MeSH
• chronická nemoc MeSH
• dospělí MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci genetika   MeSH
• genotyp MeSH
• guanin MeSH
• introny genetika   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• metoda Monte Carlo MeSH
• parodontitida genetika   imunologie   MeSH
• polymorfismus genetický genetika   MeSH
• promotorové oblasti (genetika) genetika   MeSH
• studie případů a kontrol MeSH
• TNF-alfa genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• srovnávací studie MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• adenin MeSH
• guanin MeSH
• lymfotoxin-alfa MeSH
• TNF-alfa MeSH

Susceptibility to the development of asthma and other atopic diseases is known to be associated with genetic components. Several investigators have linked the tumor necrosis factor (TNF) genes and nearby markers located on chromosome 6p to atopy and asthma. A recent study has demonstrated that the TNF-alpha*2 allele of a polymorphism in the TNF-alpha gene promoter region (G-308 A) is associated with a higher risk for the development of atopy in Spanish patients. This study evaluates the possible role of two described bi-allelic polymorphisms in the TNF locus [a G to A transition at position-308 in the 5'-promoter region of the TNF-alpha gene and an NcoI restriction fragment length polymorphism (RFLP) in the first intron (+252A/G) of the LT-alpha(TNF-beta) gene] in atopic diseases in a Czech population. We investigated the distribution of these polymorphisms in a case-control study. The genotypes were determined in 151 patients with atopic asthma and 155 randomly sampled control subjects. The genotype frequencies for both polymorphisms were similar in cases and controls. No significant differences in allele frequencies were found between either of the patients groups and the reference subjects. Similarly, there were no associations of any of the examined variants of the TNF genes with total IgE, specific IgE or pulmonary function tests in patients with allergic diseases. We conclude that these polymorphisms of the TNF genes are unlikely to contribute to atopic disease risk in our population. Significant associations that have been reported in other studies may reflect the genetic heterogeneity of these complex diseases.

• MeSH
• alely MeSH
• bronchiální astma genetika   MeSH
• časná přecitlivělost genetika   MeSH
• dospělí MeSH
• frekvence genu MeSH
• genotyp MeSH
• introny MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• polymorfismus genetický genetika   MeSH
• promotorové oblasti (genetika) MeSH
• studie případů a kontrol MeSH
• TNF-alfa genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika MeSH
• Názvy látek
• lymfotoxin-alfa MeSH
• TNF-alfa MeSH

BACKGROUND: The study was designed to investigate the associations among polymorphisms TNF-B Ncol and TNF-alpha -308G/A, plasma TNF-alpha levels and metabolic and anthropometric parameters related to insulin sensitivity in a set of 113 Caucasian subjects undergoing oral glucose tolerance test (oGTT). METHODS: Genotypes were detected by PCR; BMI, WHR, glycemia during oGTT, fasting immunoreactive insulin, fasting C-peptide, HbA(1c), total cholesterol, triglycerides, HDL, LDL and plasma TNF-alpha levels were measured in each subject. RESULTS: Type 2 diabetes was diagnosed in 10 subjects, impaired glucose tolerance (IGT) in 41, normal glucose tolerance (NGT) in 62. Significant differences among genotypes of the TNF-B Ncol were observed for FPG (P=0.0063), LDL (P=0.0179) and marginally for total cholesterol (P=0.0763) in NGT group. After the classification of NGT subjects into obese and non-obese according to BMI, associations of TNF-B Ncol with FPG, LDL and cholesterol were proved in non-obese subgroup only. TNF-alpha -308G/A polymorphism was not associated with any of the parameters studied. TNF-alpha levels did not revealed difference among NGT, IGT and DM groups or genotype-dependent differences. CONCLUSIONS: Our results indicate significant association of the TNF-B Ncol polymorphism with FPG, LDL and total cholesterol in normoglycemic non-obese Caucasian subjects. This polymorphism could be involved in genetic modulation of glucose and lipid homeostasis and regulation of insulin sensitivity already in healthy state. Disturbances of this regulation could be component of pathogenesis of type 2 diabetes mellitus.

• MeSH
• analýza rozptylu MeSH
• běloši genetika   MeSH
• diabetes mellitus 2. typu genetika   MeSH
• dospělí MeSH
• krevní glukóza metabolismus   MeSH
• lidé středního věku MeSH
• lidé MeSH
• lipidy krev   MeSH
• lymfotoxin-alfa genetika   MeSH
• omezení příjmu potravy MeSH
• polymorfismus genetický * MeSH
• porucha glukózové tolerance genetika   MeSH
• referenční hodnoty MeSH
• restrikční endonukleasy typu II * MeSH
• senioři MeSH
• tělesná konstituce MeSH
• Check Tag
• dospělí MeSH
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Evropa MeSH
• Názvy látek
• endodeoxyribonuclease NcoI MeSH Prohlížeč
• krevní glukóza MeSH
• lipidy MeSH
• lymfotoxin-alfa MeSH
• restrikční endonukleasy typu II * MeSH

The object of the study was to investigate the share of the polymorphisms I/D ACE, endothelin 1 4127G/A and TNF-beta NcoI in the susceptibility to proliferative diabetic retinopathy (PDR) in non-insulin-dependent diabetes mellitus (NIDDM). Genotypes were detected by polymerase chain reactions and determined in a set of 246 Caucasian NIDDM subjects with defined PDR status. The relevance of genotypes and clinical characteristics to the PDR occurrence was tested using multiple linear regression models and discrimination analysis. The best predictive value for PDR was given by a combination of two parameters - NIDDM duration and the TNF-beta genotype (p < 1.10(-6) and p = 1.10(-2), respectively) with a correct retrograde prediction of 82.6%. A comparison of the TNF-beta NcoI allele frequencies revealed no difference between NIDDM and nondiabetic subjects (n = 176), but a statistically significant difference was found between PDR and non-PDR NIDDM subjects (after a correction for the number of comparisons p = 0.03), allele beta2 being associated with PDR. Our results identified the allele variant TNF-beta2 being associated with PDR in NIDDM. Diabetes duration and the TNF-beta NcoI genotype were proven to significantly predict PDR occurrence. The TNF-beta2 allele could be regarded as a separate genetic risk factor that increases the relative incidence of PDR in patients with NIDDM.

• MeSH
• alely MeSH
• angiotensin konvertující enzym genetika   MeSH
• časové faktory MeSH
• diabetes mellitus 2. typu genetika   MeSH
• diabetická retinopatie genetika   MeSH
• DNA primery chemie   MeSH
• endotelin-1 genetika   MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• lidé středního věku MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• polymerázová řetězová reakce MeSH
• polymorfismus genetický * MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH
• DNA primery MeSH
• endotelin-1 MeSH
• lymfotoxin-alfa MeSH

INTRODUCTION: The presence of components of the renin angiotensin system and tumour necrosis factor in a male reproductive tract supports the hypothesis that these substances may influence reproductive functions. It was proved that angiotensin II as a product of ACE has influence on sperm capacitation and motility. TNF-beta is released from T-lymphocytes and has the regulatory effect on steroidogenesis and spermatogenesis. Aberrations of these agents can result in infertility. OBJECTIVE: The aim of this study was to determine the allele frequency of ACE and TNF-beta genes in men with pathological sperm count and men with normal fertility. We examined the insertion/deletion (I/D) ACE and B1/B2 TNF-beta gene polymorphic alleles and analyzed their frequency in patients and fertile men. DESIGN: A pilot study. SETTING: 1st Clinic of Gynaecology and Obstetrics and Institute of Pathologic Physiology, Masaryk University, Brno, CR. MATERIAL AND METHODS: The genomic DNA was isolated from peripheral blood leukocytes by a standard method according to Sambrook in a group of 46 patients (33.4 +/- 7.2 years) with pathological sperm count (9 azoospermia, 21 severe oligoasthenospermia, 16 moderate oligoasthenospermia) and in a control group of 88 healthy men (31.2 +/- 9.3 years) with normal fertility. Polymerase chain reaction (PCR) was used for genom analysis. The method according to Rigat was used for the I/D ACE polymorphism. B1/B2 TNF-beta genotype of each patient was determined after Nco I digestion of the amplified product and subsequent agrose gel electrophoresis. Fisher's exact test and chi square test were used for statistical analysis. RESULTS: In the study we found these differences of allel frequency and their combination: 1. Combinations of the genotype II (ACE) + B1B2 (TNF-beta) and genotype II (ACE) + B2B2 (TNF-beta) were less frequent in patients (8.7%) than in fertile men (28.4%), this difference was statistically significant (p = 0.021). 2. Allele B1 (TNF-beta) was more frequent among patients (40.2%) than in the control group (29.5%), this difference was near to the point of statistical significance (p = 0.05). 3. Allele D (ACE) frequency was higher in men with pathological sperm count (52.2%) than in fertile men (44.9%), this difference was not statistically significant (p = 0.15). CONCLUSION: The study has found different allele frequency of I/D ACE and B1/B2 TNF-beta genes polymorphism in men with pathological sperm count compared to men with normal fertility. These results could contribute to elucidate the genetic background of a male infertility.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• dospělí MeSH
• frekvence genu MeSH
• genotyp MeSH
• lidé MeSH
• lymfotoxin-alfa genetika   MeSH
• oligospermie genetika   MeSH
• pilotní projekty MeSH
• polymorfismus genetický * MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• anglický abstrakt MeSH
• časopisecké články MeSH
• Názvy látek
• angiotensin konvertující enzym MeSH
• lymfotoxin-alfa MeSH