CD36 gene encodes a membrane glycoprotein (type B scavenger receptor) present on the surface of many types of cells and having multiple cellular functions ranging from angiogenesis to gustatory perception of fatty acids. Using a case control genetic association approach we have analyzed selected single nucleotide polymorphisms (SNP's) in a total of 859 patients with Alzheimer's disease (AD) and controls and have identified the allele A in rs3211892 polymorphism of CD36 gene as significantly increasing the risk of AD. Additionally we have investigated, in the same sample of control subjects and patients, SNP's in ApoE gene and confirmed that the previously identified AD-associated SNP's indeed increased the risk and decreased the age of onset of AD as reported by others earlier. Based on the current knowledge of CD36 biochemistry we propose that the AD risk-imparting variants of CD36 alter cholesterol homeostasis, oxidation stress or induce pathological inflammatory cascades. The SNP rs3211892 has previously been associated with heart disease and other conditions but the present study is the first to identify a significant association between variations in CD36 gene and the risk of Alzheimer's disease.

• Klíčová slova
• ApoE, Association, CD36, Gene, MMSE, Polymorphism,
• MeSH
• Alzheimerova nemoc genetika   metabolismus   MeSH
• antigeny CD36 genetika   MeSH
• cholesterol metabolismus   MeSH
• genetická predispozice k nemoci genetika   MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus genetika   MeSH
• lidé MeSH
• oxidační stres MeSH
• polymorfismus genetický genetika   MeSH
• senioři MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• senioři MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• antigeny CD36 MeSH
• cholesterol MeSH

OBJECTIVES: Attention deficit hyperactivity disorder (ADHD) is a prevalent childhood disorder. Evidence from the family and twin studies suggest that ADHD is familiar and highly heritable. Association studies are frequently used for the searching of markers responsible for genetic basis of ADHD. We investigated TaqI polymorphism of the dopamine receptor D2 (DRD2) in relationship with ADHD. The association between TaqI A polymorphism of DRD2 gene and ADHD has previously been published. DESIGN: We used the association study to test the relationship between TaqI A polymorphism of DRD2 gene and ADHD on groups of ADHD boys and control boys. SETTING: For DNA isolation, buccal tissue was used. PCR with restriction analysis of PCR products was used for genotyping. RESULTS: We found statistically different genotypic and allelic frequencies (p < 0.008, p < 0.002, respectively) of DRD2 polymorphism between two studied groups of boys. MAIN FINDINGS: According to our results we suppose that polymorphism TaqI A of DRD2 gene is involved in the pathogenesis of childhood ADHD in male subjects. Allele A1 and genotype A1A1 in male subjects is associated with ADHD. CONCLUSIONS: Our study confirmed the relationship between TaqI A polymorphism of DRD2 gene and ADHD published previously.

• MeSH
• alely MeSH
• dítě MeSH
• DNA genetika   izolace a purifikace   MeSH
• frekvence genu MeSH
• hyperkinetická porucha epidemiologie   genetika   psychologie   MeSH
• lidé MeSH
• mladiství MeSH
• polymerázová řetězová reakce s reverzní transkripcí MeSH
• polymorfismus genetický MeSH
• psychiatrické posuzovací škály MeSH
• receptory dopaminu D2 genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mladiství MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Geografické názvy
• Česká republika epidemiologie   MeSH
• Názvy látek
• DNA MeSH
• receptory dopaminu D2 MeSH

Schizophrenia is ranked among multifactor diseases in whose pathogenesis, besides environmental factors, an interplay of functional polymorphisms of a larger number of candidate genes is involved. Neurodevelopmental abnormities are among the most accepted hypotheses in the etiology of schizophrenia. Recently, the role of oligodendrocytes in the development of the cortex has been cited repeatedly. During their various phases of differentiation oligodendrocytes present on their surfaces diverse receptors, among others the mu-opioid receptor (OPRM1). The study was focused on the relationship between the functional A118G polymorphism of the OPRM1 gene (rs1799971) and schizophrenia in groups of 130 male patients and 452 male controls. An association study revealed yet unpublished statistically significant difference of allelic and genotypic frequencies between the control and patient groups. According to our present knowledge, we assume that the OPRM1 gene polymorphism can influence the myelination of CNS neurons through regulations of expression of OPRM1 receptors on surfaces of oligodendrocytes. The neuronal myelination seems to be one of the important factors in the pathogenesis of schizophrenia.

• MeSH
• genetická predispozice k nemoci MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• receptory opiátové mu genetika   MeSH
• schizofrenie genetika   patofyziologie   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• OPRM1 protein, human MeSH Prohlížeč
• receptory opiátové mu MeSH

OBJECTIVES: The aim of the study was the evaluation of the rs1107946 polymorphism of the COLIA1 gene impact on bone mineral density and fracture risk in Slovak postmenopausal women. METHODS: One hundred and twenty-seven postmenopausal Slovak women with a diagnosis of osteopenia/osteoporosis were genotyped for rs1107946 polymorphism of the COLIA1 gene. Clinical and anthropometric data were obtained. DNA isolation was performed using a standard protocol. Genetic analyses of the rs1107946 polymorphism of the COLIA1 gene were performed by the TaqMan SNP genotyping assays. RESULTS: The study confirmed a statistically significant relationship using an association analysis between the rs1107946 polymorphism of the COLIA1 gene genotypes and body weight of the Slovak postmenopausal women with osteopenia/osteoporosis (p = 0.03). The study revealed a significant association of the risk T allele of the rs1107946 polymorphism of the COLIA1 gene with osteoporotic fractures (p = 0.038). The odds ratio confirmed 2.060 times higher risk of osteoporotic fractures in Slovak postmenopausal women with the presence of risk T allele of the rs1107946 COLIA1 gene polymorphism (OR = 2.060; 95% CI: 1.024-4.144). CONCLUSION: The results of this study revealed an association of T allele of the rs1107946 COLIA1 gene polymorphism with osteoporotic fractures in Slovak postmenopausal women with osteopenia/osteoporosis and suggest that the rs1107946 polymorphism of the COLIA1 gene may be a molecular biomarker usable in the management of osteoporosis.

• Klíčová slova
• COLIA1 gene - rs1107946 polymorphism, fracture risk, osteoporosis, postmenopausal women,
• MeSH
• genotyp MeSH
• kostní denzita genetika   MeSH
• lidé MeSH
• osteoporotické fraktury * komplikace   MeSH
• osteoporóza * komplikace   genetika   MeSH
• polymorfismus genetický MeSH
• postmenopauza MeSH
• postmenopauzální osteoporóza * genetika   komplikace   MeSH
• Check Tag
• lidé MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Slovenská republika epidemiologie   MeSH

In order to investigate the contribution of candidate genes in the RAAS in pathogenesis of EAH, we analysed the M235T polymorphism of the angiotensinogen gene, and the I/D polymorphism of ACE gene in a group of adult Caucasians (Slovene population) with EAH. Four-hundred and thirteen unrelated subjects with the diagnosis of EAH were included in the association study and they were compared to 414 subjects with normal blood pressure (the control group). The M235T angiotensinogen genotype distribution in patients with EAH (TT = 23.2%, MT = 48.7%, MM = 28.1%) did not differ from genotype distribution in controls (TT = 21.1%, MT = 49.0%, MM = 29.9%), and the TT genotype was not associated with EAH (OR 1.1; 95% CI 0.7-1.7; P = 0.6). Moreover, The I/D ACE genotype distribution in patients with EAH (DD = 32.0%, ID = 48.2%, II = 19.8%) did not differ from genotype distribution in controls (DD = 32.2%, ID = 49.0%, II = 18.8%), and the DD genotype was not associated with EAH (OR 1.0; 95% CI 0.7-1.3; P = 0.9). In conclusion, we failed to demonstrate that the M235T angiotensinogen polymorphism and the ACE I/D polymorphism were genetic markers for EAH in adult Caucasians.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• angiotensinogen genetika   MeSH
• běloši genetika   MeSH
• genotyp MeSH
• hypertenze genetika   MeSH
• lidé MeSH
• methionin genetika   MeSH
• polymorfismus genetický genetika   MeSH
• studie případů a kontrol MeSH
• threonin genetika   MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• ACE protein, human MeSH Prohlížeč
• angiotensin konvertující enzym MeSH
• angiotensinogen MeSH
• methionin MeSH
• threonin MeSH

A novel porcine gene, alpha-1-antichymotrypsin 2 (SERPINA3-2), a member of the serpin superfamily, was isolated from a porcine genomic library and sequenced. The genomic organization of the approximately 9.0 kb gene was determined on the basis of the porcine liver cDNA of SERPINA3-1 and SERPINA3-2, and comprises five exons and four introns. The coding sequence of SERPINA3-2 shares 86% identity with the paralogue, SERPINA3-1. Porcine SERPINA3-2 was found to be an orthologue of human SERPINA3 (71% identity of the coding sequences) and both genes have a similar genomic organization. Polymorphisms were found in intron 4 of the porcine gene using polymerase chain reaction-restriction fragment length polymorphism. The gene was mapped by linkage analysis and radiation hybrid mapping to the distal end of chromosome 7q, to the gene cluster of the protease inhibitors including PI1 (SERPINA1), PI2, PI3, PI4 (apparently paralogues of SERPINA3), and PO1A and PO1B. SERPINA3-2 is the first porcine serpin gene whose genomic organization has been determined.

• MeSH
• alfa-1-antichymotrypsin genetika   MeSH
• DNA chemie   genetika   MeSH
• exony MeSH
• geny genetika   MeSH
• introny MeSH
• klonování DNA MeSH
• komplementární DNA chemie   genetika   MeSH
• mapování chromozomů MeSH
• mapování pomocí radiačních hybridů MeSH
• molekulární sekvence - údaje MeSH
• polymorfismus genetický MeSH
• prasata genetika   MeSH
• sekvence aminokyselin MeSH
• sekvence nukleotidů MeSH
• sekvenční analýza DNA MeSH
• sekvenční homologie aminokyselin MeSH
• sekvenční homologie nukleových kyselin MeSH
• serpiny genetika   MeSH
• zvířata MeSH
• Check Tag
• zvířata MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Názvy látek
• alfa-1-antichymotrypsin MeSH
• DNA MeSH
• komplementární DNA MeSH
• serpiny MeSH

Platelets and fibrinogen might be involved in the pathogenesis of thrombus formation and MI. The Bgl II gene polymorphism of the alpha2beta1 integrin, which is a platelet collagen receptor, and the -455G/A polymorphism in the beta fibrinogen gene have been suggested as genetic risk factors for MI. The aim of this study was to look for a relationship between the -455G/A polymorphism in the beta fibrinogen gene and the development of MI in Caucasians with type 2 diabetes. One hundred and forty-two subjects with type 2 diabetes and MI were compared to 234 diabetic subjects with no history of coronary artery disease. There were no significant differences in the frequency of the Bgl II gene polymorphism or of the -455G/A polymorphism in the beta fibrinogen gene in the patients with MI compared to the patients without MI: Bgl II (+/+) genotype was found in 19.7% of patients with MI and 15.4% of controls and -455GG genotype was found in 58.4% of patients with MI and 57.7% of controls. The present study demonstrates that neither the Bgl II gene polymorphism nor -455G/A polymorphism in the beta fibrinogen gene is a genetic marker for MI in Slovene population (Caucasians) with type 2 diabetes.

• MeSH
• bakteriální proteiny metabolismus   MeSH
• běloši genetika   MeSH
• diabetes mellitus 2. typu komplikace   MeSH
• fibrinogen genetika   MeSH
• genetická predispozice k nemoci MeSH
• infarkt myokardu komplikace   genetika   MeSH
• integrin alfa2beta1 genetika   MeSH
• lidé MeSH
• polymorfismus genetický * MeSH
• restrikční endonukleasy typu II metabolismus   MeSH
• Check Tag
• lidé MeSH
• mužské pohlaví MeSH
• ženské pohlaví MeSH
• Publikační typ
• časopisecké články MeSH
• Názvy látek
• bakteriální proteiny MeSH
• BglII endonuclease MeSH Prohlížeč
• fibrinogen MeSH
• integrin alfa2beta1 MeSH
• restrikční endonukleasy typu II 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.

• Klíčová slova
• Frailty syndrome, Lymphoid tyrosine phosphatase locus (LYP/PTPN22), Multivariate analysis, Older adults, PTPN22 gene polymorphism, SNP rs2476601,
• 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 epidemiologie   MeSH
• Názvy látek
• PTPN22 protein, human MeSH Prohlížeč
• tyrosinfosfatasa nereceptorového typu 22 MeSH

OBJECTIVES: The long-term outcome of transplanted kidneys has not changed substantially and only a minority of grafts survives more than 15 yr. The aim of this study was to determine the influence of ACE gene polymorphism on long-term outcome after renal transplantation. DESIGN AND METHODS: Using PCR, we evaluated ACE I/D gene polymorphism in a group of patients with long-term graft function (LTF) over 15 yr and compared it with control groups of transplant recipients and population sample. RESULTS: The distribution of genotypes in the LTF group differed from transplant controls (p < 0.05). Moreover, DD homozygotes in the LTF group had better creatinine clearance (DD: 1.1 +/- 0.3, ID: 0.96 +/- 0.3, II: 0.76 +/- 0.3 mL/s; p < 0.05). There were no differences in genotype distribution between transplant and population samples. CONCLUSIONS: Results of our study have demonstrated a possible connection between the DD variant of ACE I/D gene polymorphism and excellent long-term graft function.

• MeSH
• angiotensin konvertující enzym genetika   MeSH
• časové faktory MeSH
• dospělí MeSH
• genotyp MeSH
• kreatinin moč   MeSH
• lidé středního věku MeSH
• lidé MeSH
• polymerázová řetězová reakce MeSH
• polymorfismus genetický * MeSH
• senioři MeSH
• transplantace ledvin metody   mortalita   MeSH
• výsledek terapie 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
• angiotensin konvertující enzym MeSH
• kreatinin MeSH

Background/Objectives: Several gene targets were identified for psoriasis. Some are currently being explored as potential therapeutic targets, including CCL11. Our task was to prove a possible association of single-nucleotide polymorphisms +67 G/A and -426 T/C in the eotaxin gene (CCL11, 17q 21.3) with the development and clinical aspects of psoriasis as an immune-based dermatological disease and evaluate its relationship to potential comorbidities. Material and Methods: In total, 460 patients with psoriasis were included in the case-control and genotype-phenotype study together with 167 control persons of similar age and sex distributions without a personal and/or family history of chronic disease of the skin. Two eotaxin gene polymorphisms were detected from isolated DNA via standard PCR, restriction analysis methods, and horizontal electrophoresis. Results: No significant case-control differences in the frequency of the CCL11 genotype in both polymorphisms were observed. In polymorphism +67 G/A, a significant increase in the AA genotype in patients with psoriasis guttata compared to plaque psoriasis was found (p = 0.006). A significant association of the A allele in psoriatic patients with a personal history of allergy was found (p = 0.02). The A alle was also significantly associated with a family history of psoriasis (p = 0.00008). In men, a higher risk of a delayed start of psoriasis (later than 40 years) associated with the T allele of -426 T/C polymorphism (p = 0.0007) was found. When double genotypes of both polymorphisms were evaluated, we observed significant differences in double genotype distribution between men with and without a family history of allergy (Pdg = 0.0005) and between those with and without affected siblings (Pdg = 0.03). In women with psoriasis, a higher risk of the TT genotype of -426 T/C polymorphism in patients with a personal history of diabetes (p = 0.001) as well as in patients with both a personal history of cardiovascular disease and diabetes (p = 0.00005) was proved. When double genotypes of both polymorphisms were evaluated, the significance of double genotype difference between those with and without personal history of diabetes was very high (Pdg = 0.0002). Similarly, the significance of the double genotype difference between those with and without personal history of cardiovascular diseases and diabetes was very high (Pdg = 0.000001). Conclusions: CCL11 is considered one of the basic chemokines responsible for the origin and development of immune-based reactions. Based on our results, we suggest that the +67 G/A CCL11 polymorphism should be considered as a gene modulator of psoriasis in specific subgroups of patients.

• Klíčová slova
• CCL11, polymorphism, psoriasis,
• MeSH
• chemokin CCL11 * genetika   MeSH
• dospělí MeSH
• fenotyp MeSH
• frekvence genu MeSH
• genetická predispozice k nemoci MeSH
• genetické asociační studie MeSH
• genotyp MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé středního věku MeSH
• lidé MeSH
• psoriáza * genetika   patologie   MeSH
• senioři MeSH
• studie případů a kontrol 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
• CCL11 protein, human MeSH Prohlížeč
• chemokin CCL11 * MeSH