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. Ayed Y. Lakhoua-Gorgi 2011 Cytokine and apoptosis gene polymorphisms influence the outcome of hepatitis C virus infection Hepatobiliary
The relationship between PcR-restriction fragment length polymorphism in RNASE1 (296 A/G), ANG (149 G/T) and RNASE6 (389 C/T) genes and the values of haematological and biochemical blood indices was analysed in crossbred suckling piglets (n = 473), aged 21 ± 3 days (younger, n = 274) and 35 ± 3 days (older, n = 199), descending from Polish Large White × Polish Landrace sows and Duroc × Pietrain boars. The observed distribution of all genotypes was consistent with the Hardy-Weinberg equilibrium. Anaemia was more common in younger piglets with RNASE1 GA genotype but in the blood of older GA piglets a higher count and percentage of granulocytes were noted. This could be related to the destruction of erythrocytes in younger piglets and enhanced host defence in older ones. ANG gene polymorphism was associated with the severity of iron deficiency in younger piglets. This is supposed to be linked with the different ability to protect immune cells against suppression and degradation during iron deficiency. in older piglets, this mutation differentiated the reactivity of the immune system. Varying levels of iron status and red blood cell indices in RNASE6 genotypes presumably resulted from the coupling of genes involved in iron metabolism and expressed in an age-dependent manner.
. Azad , A. K. , Sadee , W. , Schlesinger , L. S. : Innate immune gene polymorphisms in tuberculosis . Infect Immun IAI 443 – 412 ( 2012 ). 4. Döffinger , R. , Dupuis
, Kim JQ : Plasma nitric oxide concentrations and nitric oxide synthase gene polymorphisms in coronary artery disease . Clin Chem 46 , 1626 – 1630 ( 2000 ) 18
. [28] Lio , O. , Candore , G. , Crivello , A. et al. 2004 Opposite effect of interleukin-10 common gene polymorphisms in cardiovascular diseases and in successful ageing: genetic background of male centenarians is
The aim of the study was to determine the importance of two sport-associated gene polymorphisms, alpha-actinin-3 R577X (ACTN3) and angiotensin-converting enzyme I/D (ACE), among Hungarian athletes in different sports. The examination was carried out only on women (n = 100). Sport-specific groups were formed in order to guarantee the most homogeneous clusters. Human genomic DNA was isolated from blood, and genotyping was performed by polymerase chain reaction. To measure the differences between the participating groups, Chi-squared test was performed using Statistica 9.0 for Windows® (significance level: p < 0.05). In comparing the ACE I/D allele frequencies, significant difference was detected between water polo (I = 61.11%; D = 38.89%) and combat sports (I = 35.71%, D = 64.29%) athletes (p < 0.03). There was no statistical difference when ACE I/D alleles in combat sports and kayaking/rowing (p > 0.05) were compared. A similarity was detectable in the I allele frequencies of the water polo (61.11%) and kayaking/rowing (56.67%) groups. The ACTN3 R/X polymorphism showed no differences in comparison with the sport groups. R allele frequencies were higher in every group compared to the X allele. The potential significance of the ACE I allele in sports of an aerobic nature was not clearly confirmed among Hungarian athletes.
. Biagini A. Clerico 2003 Endothelial nitric oxide synthase gene polymorphisms and risk of coronary artery disease Clin Chem
Myelodysplastic syndrome (MDS) is a family of clonal disorders characterized by dyshematopoiesis and susceptibility to acute myelogenous leukemia. Tumor necrosis factor-a (TNF-a) and transforming growth factor-b (TGF-b) are cytokines that play key roles in the pathogenesis of MDS. There have been several reports on the presence of genetic polymorphisms in the DNA sequence encoding the leader sequence of the TGF-b 1 protein, and in the -308 promoter region of TNF-a. The association between TNF-a and TGF-b 1 gene polymorphism and the susceptibility to MDS and the progression of the disease was investigated. As compared with healthy control subjects (n = 74), patients with MDS (n = 55) showed no significant deviations in genotype or allele frequencies of TNF-a. Similarly, there were no differences in the distribution of TNF-a genotypes between the MDS patients with only anemia (mild group) and those with bi- or pancytopenia (severe group). On the other hand the TT homozygosity at codon 10 in exon 1 of TGF-b 1 gene was associated with a severe degree of cytopenia [95% CI OR = 4.889, p = 0.0071]. These findings suggest that the investigated genetic polymorphisms do not predispose to the development of MDS, but that TGF-b 1 gene polymorphism may affect the disease progression.
Hypertension is an increasing public health problem all over the world. Essential hypertension accounts for more than 90% of cases of hypertension. It is a complex genetic, environmental and demographic trait. New method in molecular biology has been proposed a number of candidate genes, but the linkage or association with hypertension has been problematic (lack of gene-gene and gene-environment interaction). It is well known that genetic influences are more important in younger hypertensives, because children are relatively free from the common environmental factors contributing to essential hypertension. The association studies compare genotype ferquencies of the candidate gene between patient groups and the controls, in pathways known to be involved in blood pressure regulation.This study examined three polymorphisms of these factors encoding genes (ET-1 G+5665T (Lys198Asn), endothelial nitric oxide synthase (eNOS) T-786C promoter polymorphism and 27-bp repeat polymorphism in intron 4) in adolescents with juvenile essential and obesity-associated hypertension.Significant differences were found in the G/T genotype of the ET-1 polymorphism in the hypertensive and obese+hypertensive patients (body mass index (BMI)>30). A strong association was detected between the BMI and the polymorphism of the ET-1 gene. It seems that ET-1 gene polymorphism plays a role in the development of juvenile hypertension associated with obesity. Although no significant differences were seen in the case of the eNOS promoter polymorphism and the eNOS 4th intron 27-bp repeat polymorphism. It seems that eNOS may play a role, but this is not the main factor in the control of blood pressure; it is rather a fine regulator in this process.This study with adolescents facilitates an understanding of the genetic factors promoting juvenile hypertension and obesity.
A Toll-like receptor-4-ről, a természetes immunválasz egyik központi mediátoráról ismert, hogy a mikroorganizmusok elleni védekezésen túl más, nem fertőző ágensek okozta betegségben is, mint például az atherosclerosisban fontos szerepet játszik. A Toll-like receptor-4 Asp299Gly és Thr399Ile genotípusáról kimutatták, hogy csökkentheti a proinflammatorikus citokin szintjét, növelheti a Gram-negatív fertőzések iránti fogékonyságot, de csökkentheti a carotisatherosclerosis kockázatát. Célkitűzés: A PhD-munka során három különböző, gyakori, nem fertőző betegségben vizsgálták a Toll-like receptor-4-génpolimorfizmus befolyását: a cukorbetegség és kisérszövődményeiben, az agyi ischaemiás történésben, valamint krónikus periodontitisben. Módszer: A Toll-like receptor-4 genotípus meghatározásához mindhárom vizsgálatban polimeráz láncreakciót és endonukleázhasítást végeztek, amelyet gélelektroforézises módszerrel detektáltak. Eredmények: A Toll-like receptor-4-génpolimorfizmus a diabeteses perifériás neuropathia ritkább előfordulásával mutatott összefüggést 2-es típusú cukorbetegekben, más kisérszövődménnyel nem találtak összefüggést. A polimorfizmus nem mutatott összefüggést az agyi ischaemás történés, valamint a krónikus periodontitis kockázatával. Következtetés: Az eredmények alapján diabetes mellitusban, ischaemiás agyi történésben és krónikus periodontitisben a Toll-like receptor-4 genotípus nem megfelelően érzékeny genetikai marker a különböző kockázatok megbecsüléséhez. Orv. Hetil., 2011, 152, 1855–1858.
