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2022 ◽  
Vol 15 ◽  
Author(s):  
Jie Li ◽  
Wen-Jie Yan ◽  
Yan Wu ◽  
Xin-Xin Tian ◽  
Yi-Wen Zhang

Methylphenidate (MPH) is the first-line drug for the treatment of children with attention-deficit hyperactivity disorder (ADHD); however, individual curative effects of MPH vary. Many studies have demonstrated that synaptosomal-associated protein 25 (SNAP-25) gene MnlI polymorphisms may be related to the efficacy of MPH. However, the association between SNAP-25MnlI polymorphisms and changes in brain hemodynamic responses after MPH treatment is still unclear. This study used functional near-infrared spectroscopy (fNIRS) to preliminarily investigate the interaction of MPH treatment-related prefrontal inhibitory functional changes with the genotype status of the SNAP-25 gene in children with ADHD. In total, 38 children with ADHD aged 6.76–12.08 years were enrolled in this study and divided into the following two groups based on SNAP-25 gene MnlI polymorphisms: T/T genotype group (wild-type group, 27 children) and G allele carrier group (mutation group, 11 children). The averaged oxygenated hemoglobin concentration changes [Δavg oxy-Hb] and deoxyhemoglobin concentration changes [Δavg deoxy-Hb] in the frontal cortex before MPH treatment and after 1.5 h (post-MPH1.5h) and 4 weeks (post-MPH4w) of MPH treatments were monitored using fNIRS during the go/no-go task. SNAP-IV scores were evaluated both pre-MPH and post-MPH4w treatments. In the T/T genotype group, [Δavg oxy-Hb] in the dorsolateral prefrontal cortex was significantly higher after 4 weeks of MPH (post-MPH4W) treatment than pre-treatment; however, in the G allele group, no significant differences in [Δavg oxy-Hb] were observed between pre- and post-treatments. In the go/no-go task, the accuracy was significantly increased post-MPH4w treatment in the T/T genotype group, while no significant differences were observed in response time and accuracy of the “go” sand no-go task in the G allele group for pre-MPH, post-MPH1.5h, and post-MPH4w treatments. The T/T genotype group exhibited a significant decrease in SNAP-IV scores after MPH treatment, while the G allele group showed no significant difference. In conclusion, fNIRS data combined with SNAP-25 MnlI polymorphism analysis may be a useful biomarker for evaluating the effects of MPH in children with ADHD.


Animals ◽  
2021 ◽  
Vol 11 (10) ◽  
pp. 2944
Author(s):  
Karolina Stasiak ◽  
Anna Slawinska ◽  
Joanna Bogucka

The aim of the study was to analyse the effect of probiotics, prebiotics and synbiotics injected in ovo on day 12 of embryonic development on the microstructure of the superficial pectoral muscle (musculus pectoralis superficialis) from 42-day-old chickens of different genotypes: broilers (Ross 308) and general-purpose type (green-legged partridge (GP) chickens Zk-11, native chickens). Incubated eggs were divided into four groups (each genotype separately) depending on the substance injected in ovo: normal saline (C, control); Lactococcus lactis subsp. cremoris (PRO); galactooligosaccharides, GOS (PRE) or GOS + L. lactis (SYN). After hatching, chicks were placed in eight replicated pens (four pens/genotype group). There were eight birds per pen. In total, 64 birds were used in the experiment. Birds were slaughtered at the age of 42 days, and samples of superficial pectoral muscles were taken for analysis. The microstructure of the pectoral muscles was evaluated using the cryosectioning (frozen tissue sectioning) technique and staining with haematoxylin and eosin. Statistical analysis revealed that the in ovo injection of probiotics, prebiotics and synbiotics had no significant effect on the diameter of muscle fibres from chickens of the two genotypes. The number of fibres in the muscles from green-legged partridge chickens was about three-fold higher than the fibre density in the muscles from broiler chickens, with the fibre diameter being two-fold smaller. This fact may indicate a greater tenderness of meat from GP chickens compared to the meat from Ross 308 broilers. In the case of broilers, a prebiotic (GOS) was the most effective bioactive substance in reducing the number of histopathological changes. Considering muscles from GP chickens, the number of normal fibres was highest in birds treated with the probiotic. These findings indicate that the microstructural features of pectoral muscles depend not only on the type of the injected bioactive substance but also on the genotype of chickens.


2021 ◽  
Vol 42 (Supplement_1) ◽  
Author(s):  
V Netiazhenko ◽  
A V Liakhotska

Abstract   Mutation C807 in the ITGA2 gene is associated with the risk of early myocardial infarction, ischemic stroke, embolism, thrombosis after angioplasty and stenting of coronary arteries. Aim To study the relationship between ITGA2 gene polymorphism and increased risk of CAD in patients with hypertension and hypercholesterolemia Materials and methods 72 patients were included. Study involved patients with ACS, which developed on the background of hypertension, 32 patients also had coronary angiography and stenting. We used analysis of spontaneous and induced platelet aggregation, polymorphism of C807T of the ITGA2 gene was determined by polymerase chain reaction. Results At 82.5% of patients with ACS genotype ITGA 2 C/T was prevalent – 40.3%, T/T – 31.9%. Aggregation capability research in the studied groups has shown that patients of all groups had their degree of spontaneous aggregation significantly exceeding limits of control. Wherein, the highest indices were recorded in the T/T genotype group, which exceeded reference values by 3,02 times. AA-induced aggregation in the group of patients with T/T genotype exceeded indexes of the C/C group by 17.3%, while C/T group's rates-by 16.5% (p<0.05 in both cases). Studying the degree of collagen-induced aggregation, it was noted that the highest rates were recorded in T/T genotype group – 1.68 times higher than control group. Conclusion It is found that T allele of ITGA2 carrier is typical for 72.1% of patients with acute coronary syndrome and combined with spontaneous acceleration of platelet aggregation and increases sensitivity of platelets to ADP and collagen. Results allow us to consider the carrier of the T-allele as a marker of predisposition to thrombophilia. FUNDunding Acknowledgement Type of funding sources: None.


Author(s):  
Yi Zou ◽  
Kody G Kennedy ◽  
Anahit Grigorian ◽  
Lisa Fiksenbaum ◽  
Natalie Freeman ◽  
...  

Abstract Background Oxidative stress is implicated in the neuropathology of bipolar disorder (BD). We investigated the association of single-nucleotide polymorphisms (SNPs) in the antioxidative genes superoxide dismutase 2 (SOD2) and glutathione peroxidase 3 (GPX3) with structural neuroimaging phenotypes in youth BD. Methods SOD2 rs4880 and GPX3 rs3792797 SNP genotypes, along with structural magnetic resonance imaging, were obtained from 147 youth (BD=75; healthy controls (HC)=72). Images were processed using FreeSurfer, yielding surface area, volume, and thickness values for regions of interest (ROI; prefrontal cortex (PFC), caudal anterior cingulate cortex (cACC), hippocampus) and for vertex-wise whole brain analysis. Analyses controlled for age, sex, race, and intracranial volume for volume area, and thickness analyses. Result ROI analyses revealed diagnosis-by-SOD2 rs4880 interaction effects for cACC volume and surface area, and PFC volume; in each case, there was lower volume/area in the BD GG genotype group vs. the HC GG genotype group. There was a significant BD diagnosis x GPX3 rs3793797 interaction effect for PFC surface area, where area was lower in the BD A-allele carrier group vs. the other genotype groups. Vertex-wise analyses revealed significant interaction effects in frontal, temporal, and parietal regions, related to smaller brain structure in the BD SOD2 rs4880 GG group and BD GPX3 rs3793797 A-allele carrier group. Conclusion We found preliminary evidence that SOD2 rs4880 and GPX3 rs3792797 are differentially associated with brain structure in youth with BD, in regions that are relevant to BD. Further studies incorporating additional neuroimaging phenotypes and blood levels of oxidative stress markers are warranted.


2021 ◽  
Author(s):  
Felix Poppelaars ◽  
Mariana Gaya da Costa ◽  
Bernardo Faria ◽  
Siawosh K. Eskandari ◽  
Marc A. Seelen ◽  
...  

Introduction Kidney transplantation has excellent short-term results with current immunosuppression regimes, but long-term outcomes have barely improved. Hence, there is a need for new therapeutic options to increase long-term survival of kidney grafts. Drug development for transplantation has slowly plateaued, limiting progress while making drug repurposing an attractive alternative. We, therefore, investigated the impact of tumor necrosis factor-alpha (TNF-alpha) gene (TNF) polymorphisms on kidney graft survival. Methods We performed a prospective cohort study to assess the association of TNF polymorphisms (rs1800629 G>A and rs3093662 A>G) with primary non-function (PNF) and death-censored kidney allograft survival in 1,271 kidney transplant pairs from the University Medical Center Groningen in The Netherlands. Results The G-allele of the TNF rs3093662 polymorphism in donor kidneys was associated with a higher risk of PNF (odds ratio: 2.05; 95%-CI: 1.06-3.97; P = 0.032). Furthermore, the G-allele of this TNF rs3093662 polymorphism in the donor was also associated with worse 5-year, 10-year, and 15-year death-censored kidney graft survival (P<0.05). The cumulative incidence of graft loss was 15.9% in the reference AA-genotype group and 25.2% in the AG/GG-genotype group, respectively. In multivariable analysis, the association between the TNF rs3093662 polymorphism in the donor and 15-year death-censored kidney graft survival remained significant (hazard ratio: 1.51; 95%-CI: 1.05-2.19, P = 0.028). Conclusion Kidney allografts possessing a high-producing TNF polymorphism have a greater risk of immediate and late graft loss. Our study adds to a growing body of literature indicating the potential of TNF-alpha blockade in improving kidney transplantation outcomes.


Author(s):  
Muhammad Affan Mu'in ◽  
Sintje Lumatauw

The heritability (h2) of a trait shows phenotypes variance of the trait caused by additive genetic variance. The h2 value is used to estimate the quantitative trait breeding value of livestock in order to improve these traits through selection. This study aims to estimate the h2 of egg production characteristics in Papua local chickens with different genotypes from the 24-bp InDel (Insertion-Deletion) locus in the prolactin gene promoter region (24-bp InDel/cPRLp locus). A total of 13 pairs of Papua local chickens consisting of 3 pairs of II genotypes (♂II x ♀II) and 11 female offspring, 5 pairs of ID genotypes (♂ID x ♂ID) and 19 female offspring, and 5 pairs of DD genotypes (DD x ♀DD) and 17 female offspring were used in this study. Observations were made on the characteristics of egg production in female offspring of each genotype group. The variance component for h2 estimation is obtained by the one-way analysis of variance method and the separation of the variance components for single pairs. The results showed that the h2 at first laying of eggs in all genotype groups was moderate (0.10 to 0.30); the h2 of the number of eggs produced from the time they first laid eggs until the age of 240 days in II and ID genotype groups was high (> 0.3), while in the DD genotype group was classified as moderate (0.10 to 0.30); and the h2 of egg weight in all genotype groups was moderate (0.10 to 0.30). The high h2 of a trait indicates that the trait is more dominated by additive genes and is more responsive to the selection treatment.


2021 ◽  
Author(s):  
Felix Poppelaars ◽  
Mariana Gaya da Costa ◽  
Bernardo Faria ◽  
Siawosh K. Eskandari ◽  
Jeffrey Damman ◽  
...  

Introduction Improvement of long-term outcomes in kidney transplantation remains one of the most pressing challenges, yet drug development is stagnating. Human genetics offers an opportunity for much-needed target validation in transplantation. Conflicting data exists about the effect of transforming growth factor beta 1 (TGF-beta1) on kidney transplant survival, since TGF-beta1 has profibrotic and protective effects. We therefore the impact of a recently discovered functional TGBF1 polymorphism on long term kidney graft survival. Methods We performed an observational cohort study analyzing recipient and donor DNA in 1,271-kidney transplant pairs from the University Medical Center Groningen in The Netherlands and associated a low-producing TGBF1 polymorphism (rs1800472 C>T) with 5, 10, and 15-year death-censored kidney graft survival. Results Donor genotype frequencies of s1800472 in TGBF1 differed significantly between patients with and without graft loss (P=0.042). Additionally, the low-producing TGBF1 polymorphism in the donor was associated with an increased risk of graft loss following kidney transplantation (HR 2.13 for the T allele; 95%-CI 1.16-3.90; P=0.015). The incidence of graft loss within 15 years of follow-up was 16.4% in the CC-genotype group and 28.9% in the CT-genotype group. After adjustment for transplant-related covariates, the association between the TGBF1 polymorphism in the donor and graft loss remained significant. In contrast, there was no association between the TGBF1 polymorphism in the recipient and graft loss. Conclusion Kidney allografts possessing a low-producing TGBF1 polymorphism have a higher risk of late graft loss. Our study adds to a growing body of evidence that TGFbeta1 is beneficial, rather than harmful, for kidney transplant survival.


2021 ◽  
Vol 80 (Suppl 1) ◽  
pp. 1041.1-1041
Author(s):  
V. Agarwal ◽  
S. Kakati ◽  
P. Debbaruah

Background:SNP rs7574865, located within the third intron of STAT4 gene at chromosome 2, has been associated with susceptibility to SLE among different ethnic groups.1,2 Interestingly, we recently have documented an association between this gene and susceptibility to systemic lupus erythematosus (SLE) in Indian population.3Objectives:To determine whether the STAT4 (rs7574865) SNP is associated with clinical and immunological manifestations in SLE.Methods:The study was carried out on 100 unrelated SLE (SLICC criteria 2012) patients from North-East India. Genotyping of STAT4 rs7574865 SNP was done using Taqman probe and Real-Time Polymerase chain reaction. An association study was performed between the alleles and genotypes of STAT4 rs7574865 with the clinical and immunological manifestations included in the SLE SLICC classification criteria. For all analysis, the statistical significance was fixed at 5% level of significance (p < 0.05).Results:The mean duration of illness was 2.69±2.55 years. Cases and Controls remained in Hardy-Weinberg equilibrium.The occurrence of Photosensitivity and hyperpigmentation was significantly higher in TT genotype group (97.22% and 77.77%, respectively) with p <0.001 in each case.SLE patients with nephritis (Albuminuria >500mg/24 hours) and elevated serum creatinine were both significantly higher in TT genotype group as compared to GT and GG (p< 0.001 and p=0.001 respectively).The Anti-dsDNA antibody was significantly associated with TT genotype (p <0.001).Conclusion:Our study provides evidence regarding the association between STAT4 rs7574865 gene polymorphism is risk factor for cutaneous manifestations, Lupus nephritis and Anti ds-DNA positivity in SLE. So, our findings reinforce the need for further association studies including prospective studies with larger subjects in order to replicate such findings.References:[1]Graham RR, Ph D, Hom G, Ph D, Behrens TW, Bakker PIW De, et al. and the Risk of Rheumatoid Arthritis and Systemic Lupus Erythematosus. N Engl J Med. 2007;357(10):977–86.[2]Yuan H, Feng JB, Pan HF, Qiu LX, Li LH, Zhang N, et al. A meta-analysis of the association of STAT4 polymorphism with systemic lupus erythematosus. Mod Rheumatol. 2010;20(3):257–62.[3]Gupta V, Kumar S, Pratap A, Singh R, Kumari R, Kumar S, et al. Association of ITGAM, TNFSF4, TNFAIP3 and STAT4 gene polymorphisms with risk of systemic lupus erythematosus in a North Indian population. Lupus. 2018;27(12):1973–9.Disclosure of Interests:None declared


2021 ◽  
Vol 9 (A) ◽  
pp. 57-60
Author(s):  
Zaimah Z Tala ◽  
Nurfida Khairina Arrasyid ◽  
Sanny Sanny ◽  
Mutiara Indah Sari

BACKGROUND: Interleukin-6 (IL-6) pro-inflammatory cytokines play a role in the pathogenesis of inflammatory reactions in type 2 diabetes mellitus (T2DM). The -597G/A is one of IL-6 gene polymorphisms that are associated with the T2DM risk. AIM: This study aimed to observe the polymorphism in IL-6-597 G/A gene and their levels on type 2 diabetic patients at Universitas Sumatera Utara Hospital. MATERIALS AND METHODS: IL-6 -597 G/A gene polymorphisms and levels were done in 80 type 2 diabetic patients. The levels of IL-6 were performed by enzyme-linked immunosorbent assay method. Analysis of IL-6-597 G/A gene polymorphism was done using polymerase chain reaction (PCR) and restriction fragment length polymorphism. The PCR products were cut by FokI restriction enzyme and then visualized with 4% agarose. RESULTS: This study showed that the genotype frequency of GG and GA was 97.5 % and 2.5 %, respectively; however, no A/A genotype shown in this population. IL-6 levels were higher in GG genotype group compare to GA+AA genotype group, with the association were significant (p < 0.05). CONCLUSION: This study indicated that GG genotype was common genotype in the IL-6-597 G/A gene polymorphism and the polymorphism was significantly with the IL-6 levels.


Biomedicines ◽  
2020 ◽  
Vol 8 (12) ◽  
pp. 625
Author(s):  
Alessia Di Costanzo ◽  
Annalisa Ronca ◽  
Laura D’Erasmo ◽  
Matteo Manfredini ◽  
Francesco Baratta ◽  
...  

Background. Non-alcoholic fatty liver disease (NAFLD) increases the risk of atherosclerosis but this risk may differ between metabolically- vs. genetically-driven NAFLD. High-density lipoprotein (HDL)-mediated cholesterol efflux (CEC) and plasma loading capacity (CLC) are key factors in atherogenesis. Aims. To test whether CEC and CLC differ between metabolically- vs. genetically-determined NAFLD. Methods: CEC and CLC were measured in 19 patients with metabolic NAFLD and wild-type PNPLA3 genotype (Group M), 10 patients with genetic NAFLD carrying M148M PNPLA3 genotype (Group G), and 10 controls PNPLA3 wild-types and without NAFLD. CEC and CLC were measured ex vivo by isotopic and fluorimetric techniques using cellular models. Results: Compared with Group G, Group M showed reduced total CEC (−18.6%; p < 0.001) as well as that mediated by cholesterol transporters (−25.3% ABCA1; −16.3% ABCG1; −14.8% aqueous diffusion; all p < 0.04). No difference in CEC was found between Group G and controls. The presence of metabolic syndrome further impaired ABCG1-mediated CEC in Group M. Group M had higher plasma-induced CLC than Group G and controls (p < 0.001). Conclusions: Metabolically-, but not genetically-, driven NAFLD associates with dysfunctional HDL-meditated CEC and abnormal CLC. These data suggest that the mechanisms of anti-atherogenic protection in metabolic NAFLD are impaired.


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