Osteoprotegerin (OPG) plays an important inhibitory role in osteoclastogenesis. Polymorphisms in the OPG gene recently have been associated with various bone phenotypes including fractures. The aim of the present study was to investigate the association between three informative OPG polymorphisms and quantitative ultrasound variables of the heel. In a cohort of 165 perimenopausal women polymorphisms in the OPG promoter (A163G, T245G) and in exon 1 (G1181C) were assessed by PCR-RFLP analysis. The distribution of the investigated genotypes was similar to other Caucasian women (A163G-AA 68 %, AG 30 %, GG 2 %, T245G-TT 84.4 %, TG 15 %, GG 0.6 %, G1181C-GG 22 %, CG 55 %, CC 23 %). After adjustment for body mass index and years since menopause, in a subgroup of 87 postmenopausal subjects, calcaneal velocity of sound (VOS, m/s) was significantly associated with A163G polymorphism (p=0.0102, ANCOVA). Women with the presence of G allele (AG+GG genotypes) had significantly lower VOS than women with AA genotype. Neither T245G nor G1181C were associated with calcaneal ultrasound indices. In conclusion, A163G polymorphism was significantly associated with VOS at the heel in a limited cohort of postmenopausal women. The present study replicated in part the previous findings about OPG gene variations and peripheral bone mass in Caucasian women., K. Zajíčková, A. Zemanová, M. Hill, I. Žofková., and Obsahuje bibliografii a bibliografické odkazy
The aim of our study was to evaluate possible effect of ABCB1, and OPRM1 polymorphisms on the efficacy and safety of remifentanil in women undergoing elective cesarean section under general anesthesia. Women received remifentanil (1 μg/kg i.v.) 30 s prior to the induction to standardized general anesthesia. The ABCB1 (rs2032582, rs1045642) and OPRM1 (rs1799971) polymorphisms were analyzed from maternal peripheral blood. The basal hemodynamic and demographic parameters in the study population (n=54) were similar in all the subgroups. The median ± SD increase of systolic blood pressure at 5 min from the baseline was practically completely abolished in homozygous carriers of ABCB1 variants in comparison with wildtype subjects -2.67±25.0 vs. 16.57±15.7 mm Hg, p<0.05 for rs2032582, and 2.00±23.9 vs. 22.13±16.8 mm Hg, p<0.05, for rs1045642, respectively. While no neonate belonging to ABCB1 wild-type homozygous or OPRM1 variant carrying mothers needed any resuscitative measure, 10.5 % of the neonates belonging to OPRM1 wild-type homozygous mothers received resuscitative support similarly as 11.1 %, and 12.5 % of neonates of mothers carrying variants of rs2032582, and rs1045642, respectively. Decreased stabilizing effects of remifentanil on maternal hemodynamics has been observed in ABCB1 wild type mothers, while the adaptation of the neonates was clinically worse in OPRM1 wild type, and ABCB1 variant allele carriers., H. Bakhouche, P. Noskova, S. Svetlik, O. Bartosova, J. Ulrichova, J. Kubatova, P. Marusicova, A. Parizek, J. Blaha, O. Slanar., and Obsahuje bibliografii
Insects produce pigment and structural colours mainly for camouflage, signaling, physical protection or temperature regulation, and colour patterns can provide information about individual quality. Although the evolutionary function and nature of the variability in colouration are well known for many invertebrate taxa, there is little information on this topic for ants. We studied individual variation in the melanin-based colour traits of workers of the red wood ant, Formica rufa (Hymenoptera: Formicidae), from 20 colonies in Southern Finland and revealed the type of colouration in this species. First, using the threshold approach we distinguished between continuous and discrete variations. Furthermore, the analyses affirmed nine discrete morphs in terms of the colouration on the head and eight on the pronotum, while only continuous variation were found on the other body parts. Measuring the size of a particular colour pattern, the intensity of colour expression (degree of melanization) and statistical analyses allowed an assessment of the intra-individual variation in both discrete and continuous patterns. The results revealed substantial modularity in the above mentioned colouration traits. In workers of F. rufa there were individuals with a dark head and light coloured thorax and vice a versa. Size of the dark pigment colour patterns exhibited less modularity than the degree of melanization. Finally, the interrelation between colouration traits and individual body size revealed their size-dependent origin. Small individuals had relatively larger areas of colour on the head and thorax than big individuals. These results are likely to facilitate further taxonomical and ecological studies on red wood ants, as they show it is possible to assess colouration traits in ants. However, more studies are needed on the function of polymorphism and modular colouration in this group of ants., Oksana Skaldina, Jouni Sorvari., and Obsahuje bibliografii
Genetic factors may contribute to the differential response to opioids. The aim of this study was to evaluate the association between polymorphisms of μ1-opioid receptor gene OPRM1 (rs1799971), and P-glycoprotein transporter gene ABCB1 (rs1045642, rs2032582), and piritramide efficacy under postoperative patient-controlled analgesia (PCA). In 51 patients, OPRM1 variant was associated with decreased efficacy in early postoperative period evidenced by sum of pain intensity difference in the 0-6 h postoperative period (SPID0-6), (F=3.27, p=0.029). Mean (SD) SPID0-6 was observed in the 118AA genotype 22.9 (6.1) mm, which was significantly higher from the 118GG genotype 10.0 (4.4) mm, p=0.006. The lowest cumulative dose was recorded in 118AA genotype 19.1 (9.8) mg, which was significantly less than in the 118GG genotype group 36.6 (6.1) mg, p=0.017. Opioid-induced adverse effects were observed in 11, 30, and 100 % of patients in 118AA, 118AG, and 118GG genotype groups, respectively (p<0.05). Piritramide efficacy and safety was not significantly affected by ABCB1 (rs1045642, rs2032582) polymorphisms. Variant OPRM1 118G allele is associated with decreased acute postoperative pain relief after piritramide. Decreased efficacy leads to higher drug consumption under PCA settings, which however, does not fully compensate insufficient pain relief, but increases incidence of adverse effects., O. Bartošová, O. Polanecký, F. Perlík, S. Adámek, O. Slanař., and Obsahuje bibliografii
Pojem polymorfismus, resp. polymorfie (z řeckého: polys = mnohý, morf = tvar) použil poprvé Mitscherlich [1] v roce 1822. Všiml si, že u některých arzeničnanů a fosforečnanů může jedna sloučenina určitého chemického složení vykrystalovat ve více krystalových tvarech. Dnes polymorfismus definujeme jako možnost molekuly krystalovat ve více krystalových strukturách neboli polymorfech. Pokud se do struktury při krystalizaci zabudují i molekuly solventu (nejčastěji vody), hovoříme o solvátech (hydrátech). Solváty se také označují jako pseudopolymorfy nebo solvatomorfy, ale tyto pojmy se příliš nepoužívají. Pevná forma určité molekuly může být též amorfní a je snahou rozlišovat i mezi několika amorfními formami jedné molekuly - tzv. polyamorfismus [2]. Rozeznáváme dva základní typy polymorfismu: pakovací a konformační. Pakovací polymorfismus znamená, že molekula je rigidní a polymorfy se liší pouze jejím pakováním v krystalové struktuře. Konformační polymorfismus vzniká tehdy, když je molekula flexibilní a tvoří konfomery, které odlišně krystalují. V praxi se setkáváme jak s čistým pakovacím nebo konformačním polymorfismem, tak se smíšenými typy (obr. 1, 2)., Bohumil Kratochvíl., and Obsahuje seznam literatury
We have determined the genotypes of two common polymorphisms in the lipoprotein lipase (S447X) and hepatic lipase (-480C/T) genes in a cohort of 285 representative selected Czech probands (131 male and 154 female), examined in 1988 and reinvestigated in 1996. The genotype distributions of both polymorphisms were in Hardy-Weinberg equilibrium and did not differ between male and female subjects. The rare allele frequency of the lipoprotein lipase polymorphism did not differ significantly from the other European populations. Compared to the German populations, the frequency of the hepatic lipase -480T allele was significantly higher in the Czech group (20 % vs. 36 %, p<0.0001). There were no significant associations between the lipoprotein lipase gene variants and lipid parameters measured either in 1988, or in 1996 or with changes of lipid parameters over the 8-year period. The carriers of the T-480 allele of the hepatic lipase polymorphism were found to have higher HDL cholesterol levels (p=0.02). However, this difference was confined to female subjects only. The male carriers of the -480T allele had higher concentrations of total cholesterol (p=0.03) as compared to CC-480 subjects. Both associations were observed in 1996 only. In the Slavic Czech population, a common polymorphism in the hepatic lipase gene (-480C/T), but not in the lipoprotein lipase gene (S447X), is a significant determinant of plasma HDL cholesterol in females and plasma total cholesterol in males and indicates the importance of gender-associated effects in the genetic determinations of plasma lipids., J.A. Hubáček, D.M. Waterworth, J. Piťha, S.E. Humphries, P.J. Talmud, R. Poledne., and Obsahuje bibliografii
Glucokinase (GCK) plays a key role in glucose metabolism. GCK mutations are known as a pathogenic cause of maturity-onset diabetes of the young type 2 (MODY2). These mutations are also found in gestational diabetics. The aim of our study was to assess the variability of the GCK gene in the Czech diabetic and control populations. We screened all 10 exons specific for the pancreatic isoform of glucokin ase (1a and 2-10) including the intron flanking regions in 722 subjects (in 12 patients with an unrecognised type of MODY and their 10 family members, 313 patients with diabetes mellitus type 2 (DM2), 141 gestational diabetics (GDM), 130 healthy offspring of diabetic parents, and 116 healthy controls without family history of DM2). In two MODY families we identified two mutations in exon 2 of the GCK gene: a novel mutation Val33Ala and the previously described mutation Glu40Lys. In other subgroups (excluding MODY families) we detected only intronic variants and previously described polymorphisms in exons 6 (Tyr215Tyr) and 7 (Ser263Ser), we did not find any known GCK pathogenic mutation. We observed no difference in the frequencies of GCK polymorphisms between Czech diabetic (DM2, GDM) and non- diabetic populations., P. Lukášová, J. Včelák, M. Vaňková, D. Vejražková, K. Andělová, B. Bendlová., and Obsahuje bibliografii a bibliografické odkazy
The role of the FTO gene in obesity development is well established in populations around the world. The NYD-SP18 variant has been suggested to have a similar effect on BMI, but the role of this gene in determining BMI has not yet been verified. The objective of ou r study was to confirm the association between NYD-SP18 rs6971091 SNP and BMI in the Slavic population and to analyze i) the gender-specific effects of NYD-SP18 on BMI and ii) the si multaneous effect of FTO rs17817449 and NYD-SP18 on BMI. We analyzed a sample of a large adult population based on the post-MONICA study (1,191 males and 1,368 females). Individuals were analyzed three times over 9 years. NYD-SP18 rs6971091 SNP is related to BMI in males (2000/1 GG 28.3±3.7 kg/m 2 vs. +A 27.5±3.7 kg/m 2 P<0.0005; in other examinations P<0.05 and <0.005), but not in females (all P values over 0.48 in all three examinations). Further analysis revealed the significant additive effect (but not the interaction) of FTO and NYD-SP18 SNPs on BMI in males (all P<0.01). These results suggest that association between NYD-SP18 rs6971091 SNP and BMI may be restricted to males. Furthermore, variants within NYD-SP18 and FTO genes revealed a significant additive effect on BMI values in males., J. A. Hubacek, D. Dlouha, V. Lanska, V. Adamkova., and Obsahuje bibliografii
Nitric oxide belongs to the most important factors influencing structural and functional properties of vessel wall. Both genetic and environmental factors may influence its metabolism. The aim of this study was to explore whether two common polymorphisms of endothelial nitric synthase (eNOS) may, jointly with smoking, influence the stiffness of large arteries, quantified as pulse wave velocity (PWV). One hundred ninety four subjects free of manifest atherosclerotic disease or chronic pharmacotherapy were selected from population-based postMONICA study. PWV´s were measured using Sphygmocor® device between carotic and femoral arteries (aortic PWV) and between femoral and tibialis-posterior arteries (peripheral PWV). Two common polymorphisms, T786C and G894T, were assessed. Among current smokers, homo- or heterozygous carriers of T786C mutation showed significantly higher peripheral PWV than normal genotype carriers (14.0 vs 10.7 m/s, p<0.002); the same was true for the carriers of G894T mutation (13.9 vs 11.0 m/s, p<0.015). No differences were found in non-smokers, and neither of the eNOS polymorphisms influenced aortic PWV in our setting. In conclusion, genetically determined disorder of nitric oxide metabolism was associated with increased stiffness of peripheral, muscular-type arteries in generally healthy, untreated subjects, but only in the interaction with current smoking., O. Mayer jr. ... [et al.]., and Obsahuje bibliografii a bibliografické odkazy