OBJECTIVES: Life expectancy is determined by a combination of genetic predisposition (~25%) and environmental influences (~75%). Nevertheless a stronger genetic influence is anticipated in long-living individuals. Apolipoprotein E (APOE) gene belongs among the most studied candidate genes of longevity. We evaluated the relation of APOE polymorphism and fitness status in the elderly. MATERIAL AND METHODS: We examined a total number of 128 subjects, over 80 years of age. Using a battery of functional tests their fitness status was assessed and the subjects were stratified into 5 functional categories according to Spirduso´s classification. Biochemistry analysis was performed by enzymatic method using automated analyzers. APOE gene polymorphism was analysed performed using PCR-RFLP. RESULTS: APOE4 allele carriers had significantly worse fitness status compared to non-carriers (p=0.025). Multiple logistic regression analysis showed the APOE4 carriers had higher risk (p=0.05) of functional unfitness compared to APOE2/E3 individuals. CONCLUSIONS: APOE gene polymorphism seems be an important genetic contributor to frailty development in the elderly. While APOE2 carriers tend to remain functionally fit till higher age, the functional status of APOE4 carriers deteriorates more rapidly.

• MeSH
• apolipoprotein E2 genetika   MeSH
• apolipoprotein E3 genetika   MeSH
• apolipoprotein E4 genetika   MeSH
• apolipoproteiny E genetika   MeSH
• dlouhověkost genetika   MeSH
• genetická zdatnost genetika   MeSH
• heterozygot MeSH
• hodnocení rizik MeSH
• kvantitativní polymerázová řetězová reakce MeSH
• lidé MeSH
• logistické modely MeSH
• naděje dožití MeSH
• nutriční stav MeSH
• polymorfismus genetický genetika   MeSH
• senioři nad 80 let MeSH
• senioři fyziologie   MeSH
• tělesná výkonnost MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři fyziologie   MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH

• MeSH
• histokompatibilní antigeny MeSH
• polymorfismus genetický MeSH

The frailty syndrome is a common clinical marker of vulnerability in older adults conducive to an overall decline in inflammatory stress responsiveness; yet little is known about the genetic risk factors for frailty in elderly. Our aim was to investigate the association between the rs2476601 polymorphism in PTPN22 gene and susceptibility to frailty in Mexican older adults. Data included 630 subjects 70 and older from The Coyoacán cohort, classified as frail, pre-frail, and non-frail following Fried's criteria. Sociodemographic and clinical characteristics were compared between groups at baseline and after a multivariate analysis. The rs2476601 polymorphism was genotyped by TaqMan genotyping assay using real-time PCR and genotype frequencies were determined for each frailty phenotype in all participants and subsets by age range. Genetic association was examined using stratified and interaction analyses adjusting for age, sex and variables selected in the multivariate analysis. Disability for day-life activities, depression and cognitive impairment were associated with the risk of pre-frailty and frailty at baseline and after adjustment. Carrying the T allele increased significantly the risk of frailty in patients 76 and older (OR 5.64, 95% CI 4.112-7.165) and decreased the risk of pre-frailty under no clinical signs of depression (OR 0.53; 95% CI 0.17-1.71). The PTPN22 polymorphism, rs2476601, could be a genetic risk factor for frailty as subject to quality of life. This is the first study analyzing such relationship in Mexican older adults. Confirming these findings requires additional association studies on wider age ranges in populations of older adults with frailty syndrome.

• MeSH
• alely MeSH
• fenotyp MeSH
• genetická predispozice k nemoci * MeSH
• genetické asociační studie * MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• kohortové studie MeSH
• křehkost genetika   patofyziologie   MeSH
• křehký senior MeSH
• kvalita života MeSH
• lidé MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• tyrosinfosfatasa nereceptorového typu 22 genetika   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři nad 80 let MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Mexiko MeSH

Katechol-O-methyl transferáza (COMT) je postsynaptický enzym inaktivující dopamin a další katecholaminy. Aktivita COMT vykazuje polymorfizmus způsobený tranzicí G na A na kodónu 158 chromozomu 22q11, která způsobuje náhradu valínu za methionin v sekvenci peptidu COMT. COMT s valínem v této pozici rychleji degraduje dopamin nežli varianta s methioninem. V naší studii byl ve skupině 44 nemocných schizofrenní psychózou zjištěn vliv COMT polymorfizmu na vizuální pozornost hodnocenou pomocí testu setrvalé pozornosti (CPT II). ValVal homozygoti vykazovali horší výkon v parametru commission chyb a v reakčním čase. Tento nález potvrzuje roli COMT polymorfizmu v kognitivním deficitu schizofrenie.

Catechol-O-methyl transferase (COMT) is a postsynaptic enzyme that inactivates released dopamine and other catacholamines. The COMT activity is polymorphic due to the G to A transition at codon 158 on chromosome 22q11 which translates into valine-to-methionine change in the peptide sequence. COMT with Val allele more rapidly inactivates released dopamine comparing to Met allele. In our study we found in the group of 44 patients with schizophrenic disorder that COMT polymorphism influences the outcome in visual attention measured by the CPT II test. ValVal homozygotes have worst outcome in commission errors and reaction time (p Ł 0.05). This finding confirms the role of COMT polymorphism and cognitive deficit in schizophrenia.

• MeSH
• finanční podpora výzkumu jako téma MeSH
• katechol-O-methyltransferasa MeSH
• kognice MeSH
• lidé MeSH
• polymorfismus genetický MeSH
• psychotické poruchy etiologie   MeSH
• schizofrenie etiologie   genetika   MeSH
• Check Tag
• lidé MeSH

The CD94 receptor, expressed on natural killer (NK) and CD8+ T cells, is known as a relatively non-polymorphic receptor with orthologues in humans, other primates, cattle, and rodents. In the house mouse (Mus musculus), a single allele is highly conserved among laboratory strains, and reports of allelic variation in lab- or wild-living mice are lacking, except for deficiency in one lab strain (DBA/2J). The non-classical MHC-I molecule Qa-1b is the ligand for mouse CD94/NKG2A, presenting alternative non-americ fragment of leader peptides (Qa-1 determinant modifier (Qdm)) from classical MHC-I molecules. Here, we report a novel allele identified in free-living house mice captured in Norway, living among individuals carrying the canonical Cd94 allele. The novel Cd94LocA allele encodes 12 amino acid substitutions in the extracellular lectin-like domain. Flow cytometric analysis of primary NK cells and transfected cells indicates that the substitutions prevent binding of CD94 mAb and Qa-1b/Qdm tetramers. Our data further indicate correlation of Cd94 polymorphism with the two major subspecies of house mice in Europe. Together, these findings suggest that the Cd94LocA/NKG2A heterodimeric receptor is widely expressed among M. musculus subspecies musculus, with ligand-binding properties different from mice of subspecies domesticus, such as the C57BL/6 strain.

• MeSH
• alely MeSH
• buňky NK metabolismus   MeSH
• CD8-pozitivní T-lymfocyty metabolismus   MeSH
• CHO buňky MeSH
• Cricetulus MeSH
• druhová specificita MeSH
• HEK293 buňky MeSH
• křečci praví MeSH
• lektinové receptory NK-buněk - podrodina C chemie   genetika   metabolismus   MeSH
• lektinové receptory NK-buněk - podrodina D chemie   genetika   metabolismus   MeSH
• lidé MeSH
• MHC antigeny I. třídy chemie   genetika   metabolismus   MeSH
• multimerizace proteinu MeSH
• myši inbrední C57BL MeSH
• myši inbrední DBA MeSH
• peptidy chemie   genetika   metabolismus   MeSH
• polymorfismus genetický * MeSH
• sekvence aminokyselin MeSH
• sekvenční homologie aminokyselin MeSH
• vazba proteinů MeSH
• zvířata MeSH
• Check Tag
• křečci praví MeSH
• lidé MeSH
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Norsko MeSH

• MeSH
• alely MeSH
• alergie genetika   MeSH
• bronchiální astma genetika   MeSH
• dospělí MeSH
• lidé MeSH
• matrixová metaloproteinasa 9 genetika   metabolismus   MeSH
• mladiství MeSH
• polymorfismus genetický MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mladiství MeSH

OBJECTIVES: To investigate the possible association between functional variant Ala-9Val in the MnSOD gene and asthma in the case-control study comprising 626 Caucasian subjects. METHODS: MnSOD genotypes were determined by PCR with subsequent restriction analysis by the BsaWI enzyme. RESULTS: Significant differences in allele frequencies between groups were not ascertained. CONCLUSIONS: Pursuant to these results, Ala-9Val polymorphism does not seem to be a significant predisposing factor for bronchial asthma in the Czech population.

• MeSH
• alely MeSH
• bronchiální astma genetika   MeSH
• dospělí MeSH
• financování organizované MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• lidé MeSH
• polymorfismus genetický genetika   MeSH
• studie případů a kontrol MeSH
• superoxiddismutasa genetika   MeSH
• Check Tag
• dospělí MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH

Concerning the key role of interferon-? (IFN-?) in the protective immunity against Mycobacterium tuberculosis, we aimed to find the possible association between single nucleotide polymorphism of IFN-? +874T/A (rs61923114) and pulmonary tuberculosis (PTB). This case-control study was performed on 142 PTB patients and 166 healthy subjects. Genotype analysis was done using amplification refractory mutation system-PCR (ARMS-PCR). We found that the AA genotype of +874A/T IFN-? is a risk factor for PTB (OR = 3.333, 95% CI = 1.537-7.236, p=0.002). The results showed that the +874A allele frequency was higher in PTB than in normal subjects (OR = 1.561, 95% CI = 1.134-2.480, p=0.007). In conclusion, significant association was found between the IFN-? +874T/A polymorphism (rs61923114) and susceptibility to PTB in a sample of Iranian population.

• MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• interferon gama genetika   MeSH
• jednonukleotidový polymorfismus MeSH
• lidé středního věku MeSH
• lidé MeSH
• plicní tuberkulóza genetika   MeSH
• Check Tag
• lidé středního věku MeSH
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Geografické názvy
• Írán MeSH

Většina biologických aktivit 1,25-dihydroxyvitaminu D je zprostředkována jaderným receptorem pro vitamin D (VDR), který působí jako transkripční faktor aktivovaný ligandem. V genu receptoru VDR byla nalezena řada polymorfizmů. Nacházejí se zejména ve 4 regionech, 1 polymorfní region je na 5′-konci genu (promotor), 3 polymorfní regiony jsou lokalizovány na 3′-konci genu. Některé polymorfizmy genu receptoru pro vitamin D mají vliv na jeho funkci, byl prokázán jejich vliv na hustotu kostní hmoty (BMD) nebo souvislost s výskytem některých nádorových onemocnění. Stanovit, do jaké míry ovlivňují zdravotní stav a jakou roli hraje koincidence s polymorfizmy jiných genů, však vyžaduje další zkoumání.

Most biological activities of 1,25-dihydroxyvitamin D is mediated by the nuclear vitamin D receptor (VDR), which acts as a transcription factor activated by ligand. In VDR gene were found many polymorphisms. They are located in 4 regions especially, 1 polymorphic region is located at the 5‘-end of the gene (promoter), 3 polymorphic regions are located at the 3‘-end of the gene. Some gene polymorphisms of the vitamin D receptor affect its function, has been demonstrated its influence on bone density (BMD) or associated with the occurrence of some cancers. However, to what extent affect health status and what role played the complicity polymorphisms of other genes requires further investigation.

• Klíčová slova
• 1,25-dihydroxyvitamin D, VDR,
• MeSH
• diabetes mellitus 1. typu genetika   MeSH
• kosti a kostní tkáň metabolismus   MeSH
• lidé MeSH
• nádory genetika   MeSH
• nemoci ledvin genetika   MeSH
• polymorfismus genetický MeSH
• receptory kalcitriolu fyziologie   genetika   MeSH
• vitamin D fyziologie   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• práce podpořená grantem MeSH
• přehledy MeSH

Asthma bronchiale je chronická zápalová choroba dýchacích ciest, ktorá sa klinicky prejavuje záchvatmi dýchavičnosti. Na vzniku astmy sa podiel'aju viaceré faktory, najma environmentálne a dědičné, avšak ich přesný mechanizmus pósobenia sa ešte stále študuje. V súvislosti s patogenézou astmy sa skúmajú aj geny umiestnené v HLA - genetickej oblasti. K takýmto génom sa nedávno zařadil aj gén kódujúci neklasickú molekulu HLA-G. Biologický význam HLA-G spočívá v potláčaní imunitnej odpovede a navodzovaní tolerancie. Na základe vyšetrenia sekvencie nukleotidov sa doteraz identifikovalo 47 róznych HLA-G aliel. Významný polymoďizmus zahřňa přítomnost' 14 nukleotidov na 3' konci genu HLA-G, ktorý ovplyvňuje stabilitu mRN A a pravděpodobné aj celkovú hladinu proteinu. V práci sme sa preto zamerali na analýzu přítomnosti tohto inzertu v gene HLA-G u pacientov s astmou. Celkovo sme vyšetřili 176 pacientov a 73 zdravých jedincov. Metodou PCR sme identifikovali jedincov s HLA-G genotypom „+14/+14" (19,89 % vs. 16,44 %), s genotypom „-14/-14" (29,55 % vs. 32,88 %) a heterozygotných jedincov s genotypom „+14/-14" (50,57 % vs. 50,68 %). V porovnaní s kontrolou, hladina preukaznosti/j nebola statisticky významná pri nijakej vyšetrovanej skupině, napriek tomu najváčší statistický rozdiel medzi skupinou pacientov a kontrolou sme zistili pri porovnávaní výskytu genotypu „+14/+14" (p = 0,5964).

Bronchial asthma is a chronic inflammatory disease of respiratory tract characterised by attacks of breathlessness. Many factors are involved in its development, including environmental and genetic factors; nevertheless the precise mechanisms of their contribution have not been completely elucidated until now. In relation to the pathogenesis of asthma, genes located in the HLA region have been intensively studied for many years, including HLA-G. The main biological function of HLA-G includes the participation in the tolerance induction. Similarly to other HLA genes, HLA-G is polymorphic too. By nucleotide sequence analysis 47 various HLA-G alleles have been identified until now. The most important polymorphism includes the presence of 14 bp sequence located in 3’ UTR region of HLA-G gene. It is proposed that this polymorphism is involved in mRNA stability which subsequently affects the levels of HLA-G molecules. The aim of our work was to analyse presence of 14 bp sequence in HLA-G gene in the group of patients suffering from bronchial asthma. Altogether we have analysed 176 asthma patients and 73 healthy individuals. Using PCR method we found individuals with HLA-G genotype „-14/-14“ (29,55% vs. 32,88%), with HLA-G genotype „+14/+14“ (19,89% vs. 16,44%) and those who are heterozygous „+14/-14“ (50,57% vs. 50,68%). No statistical significance has been observed by comparing any analysed group to healthy controls as revealed by parameter p counting, nevertheless, the most statistical difference were found between the „+14/+14“groups of patients and controls (p = 0,5964).

• Klíčová slova
• PCR-analýza,
• MeSH
• bronchiální astma etiologie   genetika   imunologie   MeSH
• DNA analýza   MeSH
• genetická predispozice k nemoci MeSH
• genetické testování MeSH
• genotyp MeSH
• HLA-G antigeny analýza   MeSH
• lidé MeSH
• messenger RNA MeSH
• polymorfismus genetický MeSH
• statistika jako téma MeSH
• výběr pacientů MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH