scholarly journals Genetic markers for psoriatic arthritis in patients with psoriasis. Part I: non-HLA genes

2021 ◽  
Vol 97 (4) ◽  
pp. 33-47
Author(s):  
Alexey A. Kubanov ◽  
Arfenya E. Karamova ◽  
Vadim V. Chikin ◽  
Dmitry A. Verbenko ◽  
Lyudmila F. Znamenskaya ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Bone Metabolism ◽  
Genetic Markers ◽  
Allelic Variants ◽  
Hla Genes ◽  
Joint Deformity ◽  
Polygenic Disease ◽  
Genes Encoding

Psoriatic arthritis often develops in patients with psoriasis and can lead to joint deformity, stiffness, dysfunction, and disability. Psoriatic arthritis is a polygenic disease. and the issue of personalizing the prognosis of its development can only be resolved taking into account the variability of plenty genomic loci associated with the development of the disease. The personification of the prognosis of the disease can be solved taking into account the variability of the set of genomic loci with which its development is associated. The review examines genomic polymorphisms associated with the development of psoriatic arthritis not psoriasis, except of HLA polymorphisms. Genome regions containing polymorphisms, allelic variants of which are associated both with the development of psoriatic arthritis and reducing the likelihood of its occurrence, are described. It has been reported that the predisposition to the development of psoriatic arthritis in patients with psoriasis is determined by genes encoding proteins involved in inflammation and bone metabolism.

scholarly journals Search for genetic markers of predisposition to psoriasis and psoriatic arthritis

2020 ◽  
Vol 22 (5) ◽  
pp. 925-932
Author(s):  
M. V. Smolnikova ◽  
A. A. Barilo ◽  
M. A. Malinchik ◽  
S. V. Smirnova
Keyword(s):  
Psoriatic Arthritis ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Markers ◽  
Population Sample ◽  
Control Group ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Allelic Variants ◽  
Psoriatic Disease ◽  
Distribution Frequency

Psoriasis (PS) and psoriatic arthritis (PsA) are interrelated diseases that occur in approximately 30% of patients and are characterized by the presence of a systemic inflammatory reaction that occurs as a result of a violation of the functional state of the immune system. With the advent of new technologies, several new pro-inflammatory cytokines, such as IL-23, IL-31, and IL-33, which play an important role in the pathogenesis of the psoriatic process, have been discovered and characterized. It was determined that single nucleotide polymorphisms (SNPs) in the promoter regions of the IL23, IL31 and IL33 genes play an important role in controlling the expression of relevant cytokines involved in the immunopathogenesis of psoriatic disease. The purpose of the study: to analyze the distribution of genotypes and allelic variants of polymorphisms of the IL23A (rs2066808), IL23R (rs2201841), IL31 (rs7977932) and IL33 (rs7044343), in order to search for genetic markers of predisposition to psoriasis and psoriatic arthritis. Materials and methods. The genotyping of the patients was conducted: psoriasis (PS, n = 77), median age 31.0 years (27.0-43.0), psoriatic arthritis (PsA, n = 99), median age 49.0 years (39.0-56.0) and practically healthy residents of Krasnoyarsk (n = 103), a median age of 32.0 years (24.0-38.0). DNA was isolated from whole venous blood using a standard sorbent kit. Genotyping of single nucleotide polymorphisms IL23A (rs2066808), IL23R (rs2201841), IL31 (rs7977932), IL33 (rs7044343) was carried out using real-time PCR using specific oligonucleotide primers and fluorescentlylabeled probes. Results and discussion. The frequencies of allelic variants of the studied cytokine genes in the control group obtained during the study correspond to their distribution in Caucasoid populations – the alleles IL23A * T, IL23R * T, IL31 * C, IL33 * C prevail. When comparing the distribution frequency of allelic variants of the IL23A, IL23R, IL31, IL33 genes, we did not obtain statistically significant differences between patients and the control group. Conclusions. Despite the fact that when comparing the distribution frequency of allelic variants of the IL23A, IL23R, IL31, IL33 genes, we did not obtain statistically significant differences between the patients and the control group, there are results worthy of attention. So, in patients with PS, the frequency of the C * IL23A allelic variant (rs2066808) is lower than in the population sample, which may indicate its specific role in relation to the development of the disease. All this dictates the need to continue research with the assessment of other SNPs and increase the sample of patients in search of potential genetic markers of psoriatic disease.

scholarly journals Markers of Genetic Variation in Blue Gourami (Trichogaster trichopterus) as a Model for Labyrinth Fish

Biology ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 228
Author(s):  
Gad Degani ◽  
Isana Veksler-Lublinsky ◽  
Ari Meerson
Keyword(s):  
Growth Hormone ◽  
Genetic Variation ◽  
Genetic Markers ◽  
Basic Research ◽  
Coi Gene ◽  
12S Rrna ◽  
Rrna Gene ◽  
Somatotropic Axis ◽  
Genes Encoding ◽  
Growth And Reproduction

Markers of genetic variation between species are important for both applied and basic research. Here, various genes of the blue gourami (Trichogaster trichopterus, suborder Anabantoidei, a model labyrinth fish), many of them involved in growth and reproduction, are reviewed as markers of genetic variation. The genes encoding the following hormones are described: kisspeptins 1 and 2, gonadotropin-releasing hormones 1, 2, and 3, growth hormone, somatolactin, prolactin, follicle- stimulating hormone and luteinizing hormone, as well as mitochondrial genes encoding cytochrome b and 12S rRNA. Genetic markers in blue gourami, representing the suborder Anabantoidei, differ from those in other bony fishes. The sequence of the mitochondrial cytochrome c oxidase subunit 1 (COI) gene of blue gourami is often used to study the Anabantoidei suborder. Among the genes involved in controlling growth and reproduction, the most suitable genetic markers for distinguishing between species of the Anabantoidei have functions in the hypothalamic–pituitary–somatotropic axis: pituitary adenylate cyclase-activating polypeptide and growth hormone, and the 12S rRNA gene.

When More is Still Not Enough: A Case of Ceftazidime-Avibactam Resistance in a Burn Patient

2021 ◽  
Author(s):  
Shelbye R Herbin ◽  
Katie E Barber ◽  
Andrew R Isaacson ◽  
Heather S Dolman ◽  
Jessica D McGee ◽  
...  
Keyword(s):  
Genetic Markers ◽  
Total Body Surface Area ◽  
Multidrug Resistant ◽  
Therapeutic Drug ◽  
Thermal Burn ◽  
Failure Data ◽  
Development Of Resistance ◽  
Genes Encoding ◽  
Resistance Patterns ◽  
Burn Patient

Abstract Burn patients have numerous risk factors for multidrug resistant organisms (MDROs) and altered pharmacokinetics, which both independently increase the risk of treatment failure. Data on appropriate antimicrobial dosing are limited in this population and therapeutic drug monitoring (TDM) for beta-lactams is impractical at most facilities. 1-3 Technology is available that can detect genetic markers of resistance, but they are not all encompassing, and often require specialized facilities that can detect less common genetic markers. 4-5 Newer antimicrobials can help combat MDROs, but additional resistance patterns may evolve during treatment. Considering drug shortages and antimicrobial formularies, clinicians must remain vigilant when treating infections. This case report describes the development of resistance to ceftazidime-avibactam in a burn patient. The patient was a 54- year-old burn victim with a 58% total body surface area (TBSA) thermal burn who underwent multiple courses of antibiotics for various Pseudomonal infections. The initial Pseudomonal wound infection was sensitive to cefepime, aminoglycosides, and meropenem. A subsequent resistant pseudomonal pneumonia was treated with ceftazidime-avibactam 2.5 grams every 6 hours due to the elevated MIC to cefepime (16mcg/mL) and meropenem (>8mcg/mL). Although, the patient improved over 7 days, the patient again spiked fevers and had increased white blood counts (WBC). Repeat blood cultures demonstrated a multidrug resistant (MDR) Pseudomonas with a minimum inhibitory concentration (MIC) to ceftazidime-avibactam of 16mcg/mL, which is above the Clinical and Laboratory Standards Institute (CLSI) breakpoint of 8mcg/mL. At first, resistance was thought to have occurred due to inadequate dosing, but genetic work demonstrated multiple genes encoding beta-lactamases.

scholarly journals Soluble Biomarkers of Cartilage and Bone Metabolism in Early Proof of Concept Trials in Psoriatic Arthritis: Effects of Adalimumab Versus Placebo

PLoS ONE ◽  
2010 ◽  
Vol 5 (9) ◽  
pp. e12556 ◽  
Author(s):  
Arno W. R. van Kuijk ◽  
Jeroen DeGroot ◽  
Rishma C. Koeman ◽  
Nico Sakkee ◽  
Dominique L. Baeten ◽  
...  
Keyword(s):  
Psoriatic Arthritis ◽  
Bone Metabolism ◽  
Proof Of Concept ◽  
Early Proof

scholarly journals Evaluation of serum markers of the immune response and bone metabolism facilitates early detection of psoriatic arthritis in patients with psoriasis

2020 ◽  
Vol 49 ◽  
Author(s):  
K. M. Koreshkova ◽  
Z. R. Khismatullina
Keyword(s):  
Immune Response ◽  
Parathyroid Hormone ◽  
Psoriatic Arthritis ◽  
Bone Metabolism ◽  
Matrix Protein ◽  
Clinical Chemistry ◽  
Past History ◽  
Human Leukocyte ◽  
Control Group ◽  
Open Label

Relevance: Psoriatic arthritis (PA) is a severe complication of psoriasis, leading to progressive damage to the musculoskeletal system, a decrease in the quality of life and early disability. CASPAR criteria, widely used for PA diagnosis, are highly sensitive and specific. However, some patients with psoriasis score ≥ 3 with CASPAR criteria without an established PA diagnosis. At present, there is a search for PA biomarkers, which could mirror the stages of pathogenesis of joint and enthesis destruction in this disease.Aim: To identify the most significant changes in biochemical parameters in patients with PA, that would be pathophysiologically associated with the disease.Materials and methods: We performed an open label comparative parallel group study in 60 patients with PA and 40 patients with psoriasis without PA. Clinical assessments included filling in the questionnaires, past history, dermatologist consultation, severity of psoriasis by PASI, and PA activity. Clinical chemistry examination included the levels of antibodies to citrullinated peptide, erythrocyte sedimentation rate, C-reactive protein (CRP), human leukocyte antigen HLA B27, immunoglobulins A, M, and G, complement system components C3, C4, circulating immune complexes (CIC), as well as bone metabolism parameters (calcium, phosphorus, magnesium, seromucoid, alkaline phosphatase (AP), osteocalcin, parathyroid hormone, vitamin D, matrix metalloproteinases MMP-1, MMP-3, MMP-8, and cartilage oligomeric matrix protein (СОМР).Results: Psoriasis was diagnosed in 86.6% (n = 52) of the patients with PA. Family history of psoriasis was confirmed in 55.0% (n = 22) of the patients with psoriasis without PA and in 60.0% (n = 36) of the patients with PA (p = 0.681). Compared to the patients with psoriasis without PA, the patients with PA had higher prevalence of psoriatic onychodystrophy (71.6%, n = 43, vs. 35.0%, n = 14, p = 0.0004), dactylitis (28.3%, n = 17, vs. 5.0%, n = 2, p = 0.004), extra-articular bone proliferation signs (26.6%, n = 16, vs. 5.0%, n = 2, p = 0.006). In the patients with PA, compared to those without PA, there was a significant increase in CRP levels (27.4 vs. 9.5 mg/l, p = 0.002), more than 2-fold increase in IgM and IgG (IgM, 2.35 vs. 1.2 g/l, p = 0.023; IgG, 17.7 vs. 8.45 g/l, p < 0.0001), and CIC (89.3 vs. 29.5 mU/ml, p = 0.0003). Serum phosphorus and magnesium levels in the patients with PA were lower than in the psoriasis patients without PA (phosphorus 0.8 vs. 1.6 mmol/l, respectively, p = 0.045, magnesium 0.5 vs. 1.0 mmol/l, respectively, p = 0.001), with somewhat higher parathyroid hormone levels (67.3 vs. 25.1 ng/ml, respectively, p = 0.013). Osteocalcin levels in the PA patients were by 37.3% lower than in the patients with psoriasis without PA (17.57 vs. 24.13 ng/ml, respectively, p = 0.004). MMP-1 levels in the PA group were 12.3-fold higher than in the non-PA group (37.68 vs. 3.05 ng/ml, respectively, p < 0.0001), and MMP-3 levels were 3.7-fold higher (42.35 vs. 11.36 ng/ml, respectively, p = 0.022). In the patients with PA, AP levels were 2.52-fold higher than in the control group (150.2 vs. 59.5 U/ml, respectively, p = 0.007), and COMP levels were 2.08-fold higher (415.2 vs. 199.5 ng/ml, respectively, p = 0.006).Conclusion: The patients with PA have higher serum CRP, IgM, IgG, CIC, MMP-1, MMP-3, AP, and COMP levels and lower osteocalcin, phosphorus, and magnesium concentrations, than the patients with psoriasis. These parameters are not PA-specific; however, the search for the most sensitive biomarkers of the systemic immune response and bone remodeling seems to be a promising area of research, since identification of such markers would allow for timely prediction and detection of PA in patients with psoriasis.

scholarly journals Structure and Phylogeny of the Curly Birch Chloroplast Genome

2021 ◽  
Vol 12 ◽  
Author(s):  
Konstantin A. Shestibratov ◽  
Oleg Yu. Baranov ◽  
Eugenia N. Mescherova ◽  
Pavel S. Kiryanov ◽  
Stanislav V. Panteleev ◽  
...  
Keyword(s):  
Chloroplast Genome ◽  
Genetic Markers ◽  
De Novo ◽  
Functional Organization ◽  
Protein Coding ◽  
Organelle Genomes ◽  
Genes Encoding ◽  
Cpdna Sequence ◽  
Ssr Loci ◽  
First Time

Curly birch [Betula pendula var. carelica (Merckl.) Hämet-Ahti] is a relatively rare variety of silver birch (B. pendula Roth) that occurs mainly in Northern Europe and northwest part of Russia (Karelia). It is famous for the beautiful decorative texture of wood. Abnormal xylogenesis underlying this trait is heritable, but its genetic mechanism has not yet been fully understood. The high number of potentially informative genetic markers can be identified through sequencing nuclear and organelle genomes. Here, the de novo assembly, complete nucleotide sequence, and annotation of the chloroplast genome (plastome) of curly birch are presented for the first time. The complete plastome length is 160,523 bp. It contains 82 genes encoding structural and enzymatic proteins, 37 transfer RNAs (tRNAs), and eight ribosomal RNAs (rRNAs). The chloroplast DNA (cpDNA) is AT-rich containing 31.5% of A and 32.5% of T nucleotides. The GC-rich regions represent inverted repeats IR1 and IR2 containing genes of rRNAs (5S, 4.5S, 23S, and 16S) and tRNAs (trnV, trnI, and trnA). A high content of GC was found in rRNA (55.2%) and tRNA (53.2%) genes, but only 37.0% in protein-coding genes. In total, 384 microsatellite or simple sequence repeat (SSR) loci were found, mostly with mononucleotide motifs (92% of all loci) and predominantly A or T motifs (94% of all mononucleotide motifs). Comparative analysis of cpDNA in different plant species revealed high structural and functional conservatism in organization of the angiosperm plastomes, while the level of differences depends on the phylogenetic relationship. The structural and functional organization of plastome in curly birch was similar to cpDNA in other species of woody plants. Finally, the identified cpDNA sequence variation will allow to develop useful genetic markers.

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