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The European Journal of Neuroscience Apr 2024The aim of this work was to analyse the effect of tandem repetitions in exon III of the DRD4 gene on the features of human decision-making in a model of choosing tourist...
The aim of this work was to analyse the effect of tandem repetitions in exon III of the DRD4 gene on the features of human decision-making in a model of choosing tourist attractions by adult residents of China. The study included 380 subjects: 162 (42.6%) men and 218 (57.4%) women. The mean age of the subjects was 31.7 ± 3.32 years. As a result of the survey of subjects, 5 groups of motivations for choosing tourist attractions were identified, and the frequency of their use, including the identified combinations, was determined. Using the genotyping method, the frequency of DRD4 subtypes among the subjects was determined, and their relationship with the indicated attraction selection groups was studied. It has been established that there is a significant dependence of the frequency of choosing the attractors 'relaxation', 'desire for novelty' and 'self-realization' and their combinations on the frequency of occurrence of the DRD4 2R, 4R and 5R+ subtypes in the study groups. A conclusion was made about the possible mechanism of the influence of manifestations of DRD4 subtypes on the choice of tourist attractors by implementing the neurophysiological influence of the genome on reducing the sensitivity of brain receptors to dopamine, which stimulates behaviours that compensate for the need for additional emotional influences. This work complements the existing knowledge about the impact of human innate properties on the characteristics of his behaviour and possible patterns of influence of human genotype variability on decision-making and suggests further possible directions of research in this area.
Topics: Male; Adult; Humans; Female; Receptors, Dopamine D4; Minisatellite Repeats; Genotype; Exons; Emotions
PubMed: 38382896
DOI: 10.1111/ejn.16283 -
International Journal For Parasitology Apr 2024Improvements in diagnostics for schistosomiasis in both humans and snail hosts are priorities to be able to reach the World Health Organization (WHO) goal of eliminating...
Laboratory and field validation of the recombinase polymerase amplification assay targeting the Schistosoma mansoni mitochondrial minisatellite region (SmMIT-RPA) for snail xenomonitoring for schistosomiasis.
Improvements in diagnostics for schistosomiasis in both humans and snail hosts are priorities to be able to reach the World Health Organization (WHO) goal of eliminating the disease as a public health problem by 2030. In this context, molecular isothermal amplification tests, such as Recombinase Polymerase Amplification (RPA), are promising for use in endemic areas at the point-of-need for their accuracy, robustness, simplicity, and time-effectiveness. The developed recombinase polymerase amplification assay targeting the Schistosoma mansoni mitochondrial minisatellite region (SmMIT-RPA) was used to detect S. mansoni DNA from both laboratory and field Biomphalaria snails. Laboratory snails were experimentally infected and used at one, seven, and 28 days post-exposure (dpe) to 10 S. mansoni miracidia to provide samples in the early pre-patent infection stage. Field samples of Biomphalaria spp. were collected from the Mucuri Valley and Jequitinhonha Valley regions in the state of Minas Gerais, Brazil, which are endemic for S. mansoni. The sensitivity and specificity of the SmMIT-RPA assay were analysed and compared with existing loop-mediated isothermal amplification (LAMP), PCR-based methods, parasitological examination of the snails, and nucleotide sequencing. The SmMIT-RPA assay was able to detect S. mansoni DNA in the experimentally infected Biomphalaria glabrata as early as one dpe to 10 miracidia. It also detected S. mansoni infections (55.5% prevalence) in the field samples with the highest accuracy (100% sensitivity and specificity) compared with the other molecular tests used as the reference. Results from this study indicate that the SmMIT-RPA assay is a good alternative test to be used for snail xenomonitoring of S. mansoni due to its high sensitivity, accuracy, and the possibility of detecting early pre-patent infection. Its simplicity and portability also make it a suitable methodology in low-resource settings.
Topics: Animals; Humans; Schistosoma mansoni; Recombinases; Minisatellite Repeats; Biomphalaria; Schistosomiasis mansoni; Schistosomiasis; Nucleotidyltransferases; DNA, Helminth
PubMed: 38311021
DOI: 10.1016/j.ijpara.2024.01.005 -
Journal of Infection and Public Health Mar 2024Tuberculosis (TB) is a major public health concern in Ecuador and Peru, both settings of high burden of drug resistance TB. Molecular epidemiology tools are important to...
BACKGROUND
Tuberculosis (TB) is a major public health concern in Ecuador and Peru, both settings of high burden of drug resistance TB. Molecular epidemiology tools are important to understand the transmission dynamics of Mycobacterium tuberculosis Complex (MTBC) and to track active transmission clusters of regional importance. This study is the first to address the transmission of TB between Peru and Ecuador through the population structure of MTBC lineages circulating in the Ecuadorian border province of "El Oro".
METHODS
A total number of 56 MTBC strains from this province for years 2012-2015 were included in the study and analyzed by 24-loci MIRU-VNTR and spoligotyping.
RESULTS
Genotyping revealed a high degree of diversity for MTBC in "El Oro", without active transmission clusters. MTBC L4 was predominant, with less than 2% of strains belonging to MTBC L2-Beijing.
CONCLUSIONS
These results may suggest that TB dynamics in this rural and semi-urban area would not be linked to highly transmitted strains like MTBC L2-Beijing from Peru, but related to TB relapse; although further studies with larger MTBC cultures collection from recent years are needed. Nevertheless, we recommend to reinforce TB surveillance programs in remote rural settings and border regions in Ecuador.
Topics: Humans; Mycobacterium tuberculosis; Ecuador; Peru; Minisatellite Repeats; Tuberculosis; Genotype
PubMed: 38310744
DOI: 10.1016/j.jiph.2024.01.015 -
The Malaysian Journal of Medical... Dec 2023Forensic DNA typing has been widely accepted in the courts all over the world. This is because DNA profiling is a very powerful tool to identify individuals on the basis... (Review)
Review
Forensic DNA typing has been widely accepted in the courts all over the world. This is because DNA profiling is a very powerful tool to identify individuals on the basis of their unique genetic makeup. DNA evidence is capable of not only identifying the presence of specific biospecimens in a crime scene, but it is also used to exonerate suspects who are innocent of a crime. Technological advancements in DNA profiling, including the development of validated kits and statistical methods have made this tool to be more precise in forensic investigations. Therefore, validated combined DNA index system (CODIS) short tandem repeats (STRs) kits which require very small amount of DNA, coupled with real-time polymerase chain reaction (PCR) and the statistical strengths are used routinely to identify human remains, establish paternity or to match suspected crime scene biospecimens. The road to modern DNA profiling has been long, and it has taken scientists decades of work and fine tuning to develop highly accurate testing and analyses that are used today. This review will discuss the various DNA polymorphisms and their utility in human identity testing.
PubMed: 38239252
DOI: 10.21315/mjms2023.30.6.2 -
European Journal of Neurology Apr 2024Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease with humoral and cellular autoimmunity causing demyelination of peripheral nerves,...
Association of the neonatal Fc receptor promoter variable number of tandem repeat polymorphism with immunoglobulin response in patients with chronic inflammatory demyelinating polyneuropathy.
BACKGROUND AND PURPOSE
Chronic inflammatory demyelinating polyneuropathy (CIDP) is an autoimmune disease with humoral and cellular autoimmunity causing demyelination of peripheral nerves, commonly treated with intravenous immunoglobulins (IVIg). The neonatal Fc receptor (FcRn), encoded by the FCGRT gene, prevents the degradation of immunoglobulin G (IgG) by recycling circulating IgG. A variable number of tandem repeat (VNTR) polymorphism in the promoter region of the FCGRT gene is associated with different expression levels of mRNA and protein. Thus, patients with genotypes associated with relatively low FcRn expression may show a poorer treatment response to IVIg due to increased IVIg degradation.
METHODS
VNTR genotypes were analyzed in 144 patients with CIDP. Patients' clinical data, including neurological scores and treatment data, were collected as part of the Immune-Mediated Neuropathies Biobank registry.
RESULTS
Most patients (n = 124, 86%) were VNTR 3/3 homozygotes, and 20 patients (14%) were VNTR 2/3 heterozygotes. Both VNTR 3/3 and VNTR 2/3 genotype groups showed no difference in clinical disability and immunoglobulin dosage. However, patients with a VNTR 2 allele were more likely to receive subcutaneous immunoglobulins (SCIg) than patients homozygous for the VNTR 3 allele (25% vs. 9.7%, p = 0.02) and were more likely to receive second-line therapy (75% vs. 54%, p = 0.05).
CONCLUSIONS
The VNTR 2/3 genotype is associated with the administration of SCIg, possibly reflecting a greater benefit from SCIg due to more constant immunoglobulin levels without lower IVIg levels between the treatment circles. Also, the greater need for second-line treatment in VNTR 2/3 patients could be an indirect sign of a lower response to immunoglobulins.
Topics: Infant, Newborn; Humans; Polyradiculoneuropathy, Chronic Inflammatory Demyelinating; Immunoglobulins, Intravenous; Minisatellite Repeats; Immunoglobulin G; Promoter Regions, Genetic; Receptors, Fc; Histocompatibility Antigens Class I
PubMed: 38205888
DOI: 10.1111/ene.16205 -
Problemy Radiatsiinoi Medytsyny Ta... Dec 2023summarizing the results of many years of research by the authors on the influence of gene polymorphisms encoding xenobiotic biotransformation enzymes (GSTТ1, GSTM1,...
THE ROLE OF HEREDITARY PREDISPOSITION (POLYMORPHIC MARKERS OF GLUTATHIONE-S-TRANSFERASE, CATALASE, ENDOTHELIAL NITROGEN OXIDE SYNTHASE GENES) AND SOME ADVERSE ENVIRONMENTAL FACTORS IN THE DEVELOPMENT OF BRONCHO-OBSTRUCTIVE PATHOLOGY IN CHILDREN LIVING IN RADIOACTIVELY CONTAMINATED AREAS.
OBJECTIVE
summarizing the results of many years of research by the authors on the influence of gene polymorphisms encoding xenobiotic biotransformation enzymes (GSTТ1, GSTM1, GSTР1), antioxidant protection (С^262Т of the catalase gene), endothelial nitric oxide synthase (4a/4b VNTR polymorphism of the eNOS gene), and some environmental factors on the occurrence of broncho-obstructive disorders and the development of bronchial asthma in children, residents of radioactively contaminated areas.
MATERIALS AND METHODS
The examined school-aged children were residents of radioactively RCA who had no clinical signs of respiratory pathology. Deletion polymorphism of catalase gene (CAT C^262T), polymorphism of glutathione-S-transferase gene (GSTТ1, GSTM1, GSTР1) and the polymorphism in the 4th intron (4a/4b) of the eNOS gene were studied in the molecular genetics laboratory of the State Institution «Reference Center for Molecular Diagnostics of Public Health Ministry of Ukraine». Molecular genetic studies were performed by polymerase chain reaction. The study of the ventilation lung capacity was carried out by the method of computer spirometry based on the data of the «flow-volume» loop analysis. A pharmacological inhalation test with a bronchodilator drug which affects the β2-adrenergic receptors of the lungs was used to detect early changes in the ventilatory lung capacity - bronchial hyperreactivity.
RESULTS AND CONCLUSIONS
One of the leading mechanisms, due to which the implementation of hereditary predisposition to bronchial asthma in children living in radioactively contaminated areas is the polymorphism of certain genes of glutathione-S-transferase, catalase, endothelial nitric oxide synthase. With such polymorphic variants of the GST genes, isoforms of enzymes with reduced activity are produced, which limits their ability to effectively neutralize free radicals, which are formed in excess when free radical oxidation processes are activated due to the constant intake of radionuclides with a long half-life into the body of children. Unfavorable factors that increase the risk of developing broncho-obstructive disorders and the likelihood of their implementation in the form of bronchial asthma in children, residents of radioactively contaminated areas, have been identified. It has been established that among them the leading role is played by hereditary predisposition to this disease. On the part of the child, such negative factors were unfavorable conditions of intrauterine development, the presence of signs of exudative-catarrhal diathesis, manifestations of allergies and frequent respiratory diseases from the first months of life.
Topics: Child; Humans; Polymorphism, Genetic; Nitric Oxide Synthase Type III; Catalase; Minisatellite Repeats; Genetic Predisposition to Disease; Asthma; Nitrogen Oxides; Glutathione
PubMed: 38155132
DOI: 10.33145/2304-8336-2023-28-329-347 -
Scientific Reports Dec 2023Although homeless segment of the society could be the hotspots for tuberculosis (TB) transmission, there is little data on TB in homeless individuals in Ethiopia. The...
Although homeless segment of the society could be the hotspots for tuberculosis (TB) transmission, there is little data on TB in homeless individuals in Ethiopia. The objective of this study was to investigate the molecular epidemiology and drug sensitivity of Mycobacterium tuberculosis (M. tuberculosis) isolated from homeless individuals in Addis Ababa, Ethiopia. The study was conducted on 59 M. tuberculosis isolates, which were recovered by the clinical screening of 5600 homeless individuals and bacteriological examination of 641 individuals with symptoms of pulmonary tuberculosis (PTB). Region of difference-9 (RD9) based polymerase-chain reaction (PCR), Spoligotyping and 24-loci Mycobacterial Interspersed Repetitive Unit-Variable Number Tandem Repeat (MIRU-VNTR) typing were used for genotyping of the isolates. In addition, drug sensitivity test was performed on the isolates using BD Bactec Mycobacterial Growth Inhibition Tube (MGIT) 960. Fifty-eight of the 59 isolates were positive by spoligotyping and spoligotyping International type (SIT) 53, SIT 37, and SIT 149 were the dominant spoligotypes; each consisting of 19%, 15.5%, and10.3% of the isolates, respectively. The majority of the isolates (89.7%) were members of the Euro-American (EA) major lineage. MIRU-VNTR identified Ethiopia_3, Delhi/CAS, Ethiopia_2, TUR, X-type, Ethiopia_H37Rv-like strain, Haarlem and Latin-American Mediterranean (LAM) sub lineages. The proportion of clustering was 77.6% (45/58) in spoligotyping while it was 39.7% (23/58) in 24-loci MIRU-VNTR typing. Furthermore, the proportion of clustering was significantly lowered to 10.3% (6/58) when a combination of spoligotyping and 24-loci MIRU-VNTRplus was used. The recent transmission index (RTI) recorded by spoligotyping, 24-loci MIRU-VNTR typing, and a combination of the two genotyping methods were 58.6%, 27.6% and 5.2%, respectively. Young age and living in groups were significantly associated with strain clustering (P < 0.05). The drug sensitivity test (DST) result showed 8.9% (4/58) of the isolates were resistant to one or more first line ant-TB drugs; but multidrug resistant isolate was not detected. Clustering and RTI could suggest the transmission of TB in the homeless individuals, which could suggest a similar pattern of transmission between homeless individuals and the general population. Hence, the TB control program should consider homeless individuals during the implementation of TB control program.
Topics: Humans; Mycobacterium tuberculosis; Molecular Epidemiology; Ethiopia; Tuberculosis; Tuberculosis, Pulmonary; Minisatellite Repeats; Genotype
PubMed: 38049519
DOI: 10.1038/s41598-023-48407-8 -
Nucleosides, Nucleotides & Nucleic Acids 2024Diabetic neuropathy (DN) is a serious complication of diabetes that affects peripheral and autonomic nerves, and it has been linked to irregularities in circadian...
PURPOSE
Diabetic neuropathy (DN) is a serious complication of diabetes that affects peripheral and autonomic nerves, and it has been linked to irregularities in circadian rhythm. Several studies have demonstrated that disruptions in circadian rhythm and changes in expression of rhythm genes may play a role in the development and progression of diabetes, including the development of DN.
METHODS
In this study, the association between the VNTR polymorphism of the PER3 gene and diabetic neuropathy was investigated. The study included 84 patients with diabetes, 220 patients with diabetic neuropathy, and 218 healthy individuals as the control group.
RESULTS
Upon analyzing the data from the study, it was found that there was no significant difference in the PER3 VNTR polymorphism between the diabetic neuropathy patients, diabetes and control groups. However, there was a significant difference observed between the control group and the diabetes group, particularly in terms of the 5/5 genotype and 5 alleles. Moreover, a significant difference was observed between the patient group and the control group ( < 0.05).
CONCLUSIONS
In conclusion, first in the world, the relationship between PER3 gene VNTR polymorphism and diabetic neuropathy and diabetes, was investigated. Our results showed that PER3 may be associated with diabetes but not with diabetic neuropathy.
Topics: Aged; Female; Humans; Male; Middle Aged; Alleles; Case-Control Studies; Circadian Rhythm; Diabetic Neuropathies; Genotype; Minisatellite Repeats; Period Circadian Proteins; Polymorphism, Genetic
PubMed: 38037954
DOI: 10.1080/15257770.2023.2286996 -
Nucleosides, Nucleotides & Nucleic Acids 2024Major depressive disorder (MDD), which is a prevalent psychiatric disorder, is characterized by sleep-wake disturbances. An underlying circadian rhythm disorder mainly...
Major depressive disorder (MDD), which is a prevalent psychiatric disorder, is characterized by sleep-wake disturbances. An underlying circadian rhythm disorder mainly may cause these disturbances. The study presented here was designed to investigate the existence of Period Circadian Regulator 3 () gene VNTR variant in MDD patients in Turkish population. A sample of 118 patients with MDD and 150 healthy volunteers were included in the study. The VNTR genotyping was performed on DNA by polymerase chain reaction (PCR) using specific primers. The prevalence rates of genotypes of 5/5, 5/4, and 4/4 profiles for the variant were 30.5%, 55.9%, and 13.6%, respectively, in patients with MDD, and 23.3%, 57.3%, and 19.3%, respectively in the control group. No significant difference was observed between the two groups in terms of either genotype distributions or allele frequencies of the VNTR variant of the gene ( >). There was no statistically significant association between the patients and the controls in terms of 5/5 + 4/5 versus 4/4 and 5/5 versus 4/5 + 4/4 (). The present results suggest that the VNTR variant was not associated with MDD in the Turkish population. However, further studies with other gene variants in different ethnic populations are needed to address the exact role of this variant in MDD.
Topics: Adult; Female; Humans; Male; Case-Control Studies; Depressive Disorder, Major; Gene Frequency; Genotype; Minisatellite Repeats; Period Circadian Proteins; Turkey
PubMed: 38006223
DOI: 10.1080/15257770.2023.2282572 -
Asian Journal of Psychiatry Jan 2024There seems to be an association between the DRD4 48-bp VNTR polymorphisms and antipsychotic treatment response, but there is a rare reference to confirm this finding....
OBJECTIVE
There seems to be an association between the DRD4 48-bp VNTR polymorphisms and antipsychotic treatment response, but there is a rare reference to confirm this finding. Hence, the present study tried to investigate the association between DRD4 48-bp VNTR polymorphisms and the treatment response of antipsychotics in patients with schizophrenia in Taiwan, using a propensity score matching (PSM) method.
METHODS
A total of 882 participants were enrolled in this study and completed informed consent, research questionnaires, including demographic information and the revised Chinese version Beliefs about Voices Questionnaire, and blood sampling. For descreasing of the selection bias and confounding variables, the PSM nearest neighbor matching method was used to select 765 paitents with schizophrenia (ratio of 1:8 between 85 persistent auditory hallucination and 680 controls) with matched and controlled the age and gender.
RESULTS
Schizophrenia patients with DRD4 4 R homozygosity had a lower rate of good antipsychotic treatment response than the other DRD4 genotype carriers (DRD4 non-4/4). Among those 4 R homozygosity carriers, 60 cases of 503 (11.9%) retain persistent auditory hallucinations. Furthermore, this subgroup of patients is accounted for up to 70.6% of cases with poor neuroleptic treatment response.
CONCLUSIONS
A poor treatment outcome for patients with the 4 R homozygosity had presented,that comparing with those DRD non-4/4 genotype carriers. DRD4 VNTR 4 R homozygosity could be a genetic biomarker to predict poor antipsychotic treatment response in schizophrenia. Patients with DRD 4/4 probably receive novel antipsychotic medications preferentially or in combination with alternative therapy, such as psychotherapy or milieu therapy.
Topics: Humans; Schizophrenia; Antipsychotic Agents; Receptors, Dopamine D4; Minisatellite Repeats; Genotype; Hallucinations; Biomarkers
PubMed: 37988928
DOI: 10.1016/j.ajp.2023.103831