scholarly journals Protein Variation Associated With Facial Eczema Resistance or Susceptibility in Romney Sheep

2021 ◽  
Author(s):  
◽  
Paul Chim Loong

<p>The detection of plasma and liver protein markers for facial eczema resistance or susceptibility in Romney sheep was undertaken. A pooling protocol was used to allow rapid comparison of variation between populations. A 2-D PAGE technigue was developed for protein separation. In general, proteins separated by 2-D PAGE were examined on Coomassie blue or silver stained gels. Greater sensitivity was achieved by labelling proteins with radioactive isotopes. Reductive methylation of the free amino groups of proteins with radioactively labelled formaldehyde and sodium cyanoborohydride was used for isotopic labelling of proteins. A double-labelling technique involving 14C and 3H was used to label plasma or liver proteins from facial eczema resistant and susceptible sheep. The labelled proteins were subsequently separated by 2-D PAGE and detected by autoradiography and fluorography. Any detected variation was further analysed for individuals on one-dimensional polyacrylamide gels which allowed more rapid analysis of multiple samples. No significant difference was detected among the liver proteins of resistant and susceptible sheep. However, among the approximately twenty major plasma protein families visualised on 2-D PAGE gels, significant variation between sheep selected for facial eczema resistance or susceptibility occurred at the transferrin locus. Sheep selected for resistance showed a predominance of acidic transferrins while sheep selected for susceptibility contained a basic transferrin in greater abundance. These results were confirmed and their significance was assessed by transferrin phenotyping on one-dimensional polyacrylamide gels. The transferrin A allele was more abundant in sheep selected for resistance while the transferrin D allele showed a greater association with facial eczema susceptibility. The A allele frequency was 0.57 in resistants and 0.05 in susceptibles while the D allele frequency was 0.18 in resistants and 0.68 in susceptibles. The results suggest some separation of transferrin A and D alleles between the animals selected for resistance and susceptibility. The basis of this variation is unknown. It may reflect either a physiological association of transferrin alleles with a character of importance in facial eczema resistance, or it may be a phenomenon unrelated to facial eczema resistance produced as a result of the way in which the facial eczema resistant and susceptible flocks were generated. It is expected that subsequent genetic studies will show whether transferrin phenotype can be used as a marker to select for facial eczema resistance as a means of controlling the disease.</p>

2021 ◽  
Author(s):  
◽  
Paul Chim Loong

<p>The detection of plasma and liver protein markers for facial eczema resistance or susceptibility in Romney sheep was undertaken. A pooling protocol was used to allow rapid comparison of variation between populations. A 2-D PAGE technigue was developed for protein separation. In general, proteins separated by 2-D PAGE were examined on Coomassie blue or silver stained gels. Greater sensitivity was achieved by labelling proteins with radioactive isotopes. Reductive methylation of the free amino groups of proteins with radioactively labelled formaldehyde and sodium cyanoborohydride was used for isotopic labelling of proteins. A double-labelling technique involving 14C and 3H was used to label plasma or liver proteins from facial eczema resistant and susceptible sheep. The labelled proteins were subsequently separated by 2-D PAGE and detected by autoradiography and fluorography. Any detected variation was further analysed for individuals on one-dimensional polyacrylamide gels which allowed more rapid analysis of multiple samples. No significant difference was detected among the liver proteins of resistant and susceptible sheep. However, among the approximately twenty major plasma protein families visualised on 2-D PAGE gels, significant variation between sheep selected for facial eczema resistance or susceptibility occurred at the transferrin locus. Sheep selected for resistance showed a predominance of acidic transferrins while sheep selected for susceptibility contained a basic transferrin in greater abundance. These results were confirmed and their significance was assessed by transferrin phenotyping on one-dimensional polyacrylamide gels. The transferrin A allele was more abundant in sheep selected for resistance while the transferrin D allele showed a greater association with facial eczema susceptibility. The A allele frequency was 0.57 in resistants and 0.05 in susceptibles while the D allele frequency was 0.18 in resistants and 0.68 in susceptibles. The results suggest some separation of transferrin A and D alleles between the animals selected for resistance and susceptibility. The basis of this variation is unknown. It may reflect either a physiological association of transferrin alleles with a character of importance in facial eczema resistance, or it may be a phenomenon unrelated to facial eczema resistance produced as a result of the way in which the facial eczema resistant and susceptible flocks were generated. It is expected that subsequent genetic studies will show whether transferrin phenotype can be used as a marker to select for facial eczema resistance as a means of controlling the disease.</p>


2017 ◽  
Vol 41 (S1) ◽  
pp. S101-S102
Author(s):  
V. Djordjevic ◽  
T. Jevtovic Stoimenov

IntroductionSchizophrenia is treated with antipsychotics and other psychotropic medications, many of which are substrates for the highly polymorphic CYP2D6 enzyme. The most frequent variant allele is CYP2D6*4- leading cause of poor metabolism (PM) phenotype. PM causes the reduction of therapeutic response, increase the risk of adverse drug reactions and increase the plasma concentration of both drug and its metabolites above the levels of toxicity.The AimAnalysing CYP2D6*4 allele frequency among schizophrenic patients for further individualisation and rationalisation of therapy.Patients and methodsResearch was conducted on 38 schizophrenic patients and 110 healthy individuals. CYP2D6*4 allele was detected with allele specific PCR.ResultsBoth wild type allele carriers are 55% of the schizophrenic patients, 45% are wild type/*4heterozygous, and *4/*4 homozygous are not identified. There is a statistically significant difference in the genotype distribution (P < 0.05) between schizophrenic patients and healthy individuals. Significantly higher *4 allele frequency (37%) comparing to healthy individuals (P < 0.0001) indicates the necessary caution in administration of CYP2D6 substrates. A lower frequency of PMs in schizophrenic patients than in healthy individuals could be explained with CYP2D6 neuroactive substrate metabolism. Forty-five percent of the schizophrenic patients are intermediate metabolisers carrying the higher risk of adverse response to CYP2D6 substrates comparing to wild type homozygous. As none of the analyzed patients was PM, exceeded plasma concentrations of medications above toxic levels are not expected when administrating the right dosage.ConclusionAltered CYP2D6 metabolism may contribute to the vulnerability, clinical severity and treatment outcome of schizophrenia.Disclosure of interestThe authors have not supplied their declaration of competing interest.


2021 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Maryam Saneipour ◽  
Abdolkarim Sheikhi ◽  
Abbas Moridnia

Background: Breast cancer (BC) is the most common malignant tumor in women around the world. Genetic factors do play a vital role in the development and progression of BC. Genetic alterations in the ESR1 (estrogen receptor 1) gene can lead to estrogen dysfunction and increased risk for BC. Nevertheless, due to genetic diversity, the information from different studies is contradictory and controversial. Objectives: This study aimed to investigate the potential relationship between the rs1801132 and rs2234693 single nucleotide polymorphism (SNPs) of the ESR1 gene with susceptibility to BC in the Iranian population. Methods: The genotyping of the rs2234693 and rs1801132 SNPs was assessed in 63 BC patients referred to Imam Hasan Mojtaba Center, which is a charity-based foundation for cancer care in Dezful, Iran, from March 2018 to November 2019. Also, 65 healthy women were selected as a control group. The genotyping of the SNPs was performed using the high-resolution melting (HRM) technique and confirmed by DNA sequencing. Results: The genotype distribution and allele frequency of the rs2234693 SNP were significantly different in BC patients compared to the control group (genotype frequency with P = 0.018 and allele frequency with P = 0.004, OR = 2.085, 95% CI = 1.253 -3.468). In genetic models, rs2234693 increased BC risk in recessive model (P = 0.005, OR = 2.813, 95% CI = 1.363 - 5.802). However, there was no significant difference regarding genotype distribution of the rs1801132 SNP between the BC patients and controls. Conclusions: Our results showed that the CC genotype of the rs2234693 SNP is significantly associated with BC. Accordingly, it can be suggested that the rs2234693 SNP be considered for susceptibility to BC.


Author(s):  
В.В. Амеличев ◽  
Д.А. Жуков ◽  
С.И. Касаткин ◽  
Д.В. Костюк ◽  
О.П. Поляков ◽  
...  

The results of experimental and theoretical studies of the influence of the current value on the characteristics of anisotropic magnetoresistive magnetic field sensors based on FeNiCo alloy with a "barber-polе" structure are presented. A significant difference was found between the volt-oersted characteristics of the forward and reverse strokes with an increase in the intrinsic current caused by the input supply voltage at sufficiently high external magnetic fields. A theoretical calculation of the volt-oersted characteristic was carried out within the framework of the model of one-dimensional heterogeneity of the magnetization distribution, which coincides with the experimental curves of the forward path.


2007 ◽  
Vol 20 (01) ◽  
pp. 18-23 ◽  
Author(s):  
P. Schawalder ◽  
B. Rahn ◽  
C. Eckhardt ◽  
E. Schneider ◽  
C. Lill ◽  
...  

SummaryDuring osteoporosis induction in sheep, side effects of the steroids were observed in previous studies. The aim of this study was to improve the induction regimen consisting of ovariectomy, calcium/vitamin D- restricted diet and methylprednisolone (-MP)- medication with respect to the bone metabolism and to reduce the adverse side effects. Thirty-six ewes (age 6.5 ± 0.6 years) were divided into four MP-administration groups (n=9) with a total dose of 1800 mg MP: group 1: 20 mg/day, group 2: 60 mg/ every third day, group 3: 3x 500 mg and 1x 300 mg at intervals of three weeks, group 4: weekly administration, starting at 70 mg and weekly reduction by 10 mg. After double-labelling with Calcein Green and Xylenol Orange, bone biopsy specimens were taken from the iliac crest (IC) at the beginning and four weeks after the last MP injection, and additionally from the vertebral body (VB) at the end of the experiment. Bone samples were processed into stained and fluorescent sections, static and dynamic measurements were performed. There were no significant differences for static parameters between the groups initially. The bone perimeter and the bone area values were significantly higher in the VB than in the IC (Pm: 26%, p<0.0001, Ar: 11%, p<0.0166). A significant decrease (20%) of the bone area was observed after corticosteroid- induced osteoporosis (p<0.0004). For the dynamic parameters, no significant difference between the groups was found. Presence of Calcein Green and Xylenol Orange labels were noted in 50% of the biopsies in the IC, 100% in the VB. Group 3 showed the lowest prevalence of adverse side effects. The bone metabolism changes were observed in all four groups, and the VB bone metabolism was higher when compared to the IC. In conclusion, when using equal amounts of steroids adverse side effects can be reduced by decreasing the number of administrations without reducing the effect regarding corticosteroid- induced osteoporosis. This information is useful to reduce the discomfort of the animals in this sheep model of corticosteroid-induced osteoporosis.


2020 ◽  
Vol 39 (4) ◽  
pp. 1173-1179 ◽  
Author(s):  
Carmel J. W. Stock ◽  
Angelo De Lauretis ◽  
Dina Visca ◽  
Cecile Daccord ◽  
Maria Kokosi ◽  
...  

AbstractAlthough several genetic associations with scleroderma (SSc) are defined, very little is known on genetic susceptibility to SSc-associated interstitial lung disease (SSc-ILD). A number of common polymorphisms have been associated with SSc-ILD, but most have not been replicated in separate populations. Four SNPs in IRF5, and one in each of STAT4, CD226 and IRAK1, selected as having been previously the most consistently associated with SSc-ILD, were genotyped in 612 SSc patients, of European descent, of whom 394 had ILD. The control population (n = 503) comprised individuals of European descent from the 1000 Genomes Project. After Bonferroni correction, two of the IRF5 SNPs, rs2004640 (OR (95% CI)1.30 (1.10–1.54), pcorr = 0.015) and rs10488631 (OR 1.48 (1.14–1.92), pcorr = 0.022), and the STAT4 SNP rs7574865 (OR 1.43 (1.18–1.73), pcorr = 0.0015) were significantly associated with SSc compared with controls. However, none of the SNPs were significantly different between patients with SSc-ILD and controls. Two SNPs in IRF5, rs10488631 (OR 1.72 (1.24–2.39), pcorr = 0.0098), and rs2004640 (OR 1.39 (1.11–1.75), pcorr = 0.03), showed a significant difference in allele frequency between controls and patients without ILD, as did STAT4 rs7574865 (OR 1.86 (1.45–2.38), pcorr = 6.6 × 10−6). A significant difference between SSc with and without ILD was only observed for STAT4 rs7574865, being less frequent in patients with ILD (OR 0.66 (0.51–0.85), pcorr = 0.0084). In conclusion, IRF5 rs2004640 and rs10488631, and STAT4 rs7574865 were significantly associated with SSc as a whole. Only STAT4 rs7574865 showed a significant difference in allele frequency in SSc-ILD, with the T allele being protective against ILD.Key points• We confirm the associations of the IRF5 SNPs rs2004640 and rs10488631, and the STAT4 SNP rs7574865, with SSc as a whole.• None of the tested SNPs were risk factors for SSc-ILD specifically.• The STAT4 rs7574865 T allele was protective against the development of lung fibrosis in SSc patients.• Further work is required to understand the genetic basis of lung fibrosis in association with scleroderma.


Blood ◽  
2008 ◽  
Vol 112 (11) ◽  
pp. 4539-4539
Author(s):  
Fatih Demircioglu ◽  
Hale Ören ◽  
Sefa Kizildag ◽  
Sebnem Yilmaz ◽  
Berna Atabay ◽  
...  

Abstract A recent study showed that expression of Toll-like receptor and interferon-gamma associated genes is significantly increased in patients with chronic ITP. Interferon-gamma is an important protein which takes place in immunoregulation. +874A/T polymorphism in the first introne of interferon gamma gene is found to be associated with the development and clinical phenotype of some autoimmune diseases such as diabetes mellitus, thyroiditis, multiple sclerosis, and SLE. The aim of our study was to investigate whether interferon gamma +874A/T polymorphism is a risk factor for the development of ITP and whether it affects the clinical course and response to the treatment. Thirty five children with acute ITP and 40 children with chronic ITP who were followed for at least 6 months were included. Control group consisted 90 healthy children. Two millilitres of blood sample was taken into sterile tubes containing 0.1% EDTA from each child and all blood samples were stored at −20 until analysis. DNA was isolated from blood samples and interferon gamma +874A/T polymorphism was studied with real-time PCR and LightCycler TM. Twenty one patients had AA, 35 patients had AT, and 19 patients had TT genotype. In the control group, 47 children had AA, 36 children had AT, and 7 children had TT genotype. There was a statistical difference between ITP and control group regarding the genotype (p=0.001). The frequency of A and T alleles in ITP group was 52% and 48%, respectively. The frequency of A and T alleles in control group was 72.7% and 27.8%, respectively. The frequency of allele distribution was statistically different between the ITP and control groups (p&lt;0.0001). There was a statistical significant difference between acute ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.002, p=0.002). Similarly, there was a statistical significant difference between chronic ITP and control group regarding the frequency of AA, AT, and TT gene polymorphisms and allele frequency (p=0.008, p=0.002). The frequency of AA, AT, and TT gene polymorphisms and allele frequency showed no statistical difference between acute and chronic ITP groups (p=0.285, p=0.896). There was no correlation between interferon gamma +874A/T polymorphism and severity of bleeding (mild, moderate and severe) (p=0.09). There was no correlation between interferon gamma +874A/T polymorphism and response to long term treatment in patients with chronic ITP (p=0.568). In conclusion, there was a significant difference between patients with ITP and children in control group regarding interferon gamma +874A/T polymorphism and in the light of recent data involving other autoimmune disorders, we think that interferon gamma +874A/T polymorphism may be a risk factor for ITP.


Author(s):  
Abdolhamid Amooee ◽  
Seyed Mohammadreza Niktabar ◽  
Mohammad Javad Akbarian-Bafghi ◽  
Majid Morovati-Sharifabad ◽  
Mohamad Hosein Lookzadeh ◽  
...  

Background: The TGF-α TaqI C >T polymorphism is a well-characterized variant for nonsyndromic cleft lip and/or palate (NS CL/P), but it has shown inconsistent results of association with nonsyndromic CL/P across a number of studies. Thus, we have performed this case-control study to clarify the association between the TGF-α TaqI C >T polymorphism and NS CL/P risk.   Methods: One-hundred ten cases with NSCL/P and 110 controls were recruited to the current study. We have genotyped the TGF-α TaqI C >T polymorphism using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. The odds ratio (OR) and 95% confidence interval (CI) were applied for strength of association TGF-α TaqI C >T polymorphism with NSCL/P.   Results: The TGF-α TaqI C >T polymorphism CC, CT and TT genotypes frequencies in the NSCL/P cases were 30.9%, 57.3% and 11.8%, respectively while the corresponding frequencies in the controls were 37.3%, 52.7% and 10.0%, respectively. The frequency of C and T alleles in the case were 59.5% and 40.5%, respectively while the corresponding allelic frequencies in the controls were 63.6% and 36.4%. There was no significant difference in the genotype and allele frequency for TGF-α TaqI C >T polymorphism between cases and controls. The minor allele frequency (MAF) of TGF-α TaqI C >T polymorphism among healthy controls was 0.36.   Conclusion: Our study indicates that the TGF-α TaqI C>T polymorphism was not significantly associated with increased risk of NS CL/P in the Iranian population. However, our results still need to be confirmed by further large and well-designed case-control studies.


Author(s):  
Juan Carlos Esparza-García ◽  
David Santiago-Germán ◽  
María Guadalupe Valades-Mejía ◽  
Jesus Hernández-Juárez ◽  
Eberth Aguilar-Sosa ◽  
...  

AbstractBackground: Polymorphisms in the endothelial nitric oxide synthase (eNOS) and in the plasminogen activator inhibitor -1 (PAI-1) genes have been implicated in stroke pathogenesis but results are still controversial. The aim of this study was to examine the possible contribution of Glu298Asp in the eNOS and 4G/5G in the PAI-1polymorphisms with ischemic stroke in a young Mexican population. Materials and Methods: In a case-control study, conducted between January 2006 and June 2010, 204 patients ≤45 years of age with ischemic stroke and 204 controls matched by age and gender, were recruited. The Glu298Asp and 4G/5G polymorphisms were determined in all participants by polymerase chain reaction-restriction fragment length polymorphism. Results: There was a significant difference in the Glu298Asp genotype distribution (P=0.001) and allele frequency between the two groups (P=0.001). The 4G/5G genotype distribution (P=0.40) and the allele frequency was similar between groups; (P=0.13). There were independent factors for ischemic stroke: Asp carriage (GluAsp+AspAsp) (P=0.02); smoking (P=0.01); hypertension (P=0.03), and familial history of atherothrombotic disease (P=0.04). Conclusions: The Asp allele from the Gu298Asp gene represents an independent risk factor for ischemic stroke in a young Mexican population. In contrast, the 4G/5G was not associated with an increased risk for this disease in the same group of patients, as previously has been demonstrated in other populations.


2008 ◽  
Vol 56 (8) ◽  
pp. 1004-1010 ◽  
Author(s):  
Cinzia Fatini ◽  
Elena Sticchi ◽  
Rossella Marcucci ◽  
Abdihakim Abdullahi Said ◽  
Stefano Del Pace ◽  
...  

ObjectiveACE gene is reported to be a candidate gene in heart failure. The insertion/deletion (I/D) polymorphism has been observed to be a predictor of mortality in this disease, but no data are available concerning the role of ACE −240A>T polymorphism. In this study, we investigated the role of ACE I/D and −240A>T polymorphisms in influencing both severity and clinical outcomes in patients with heart failure, according to New York Heart Association (NYHA) class.PatientsWe studied 323 patients with heart failure (258 men/65 women; age, 70.8 ± 11.5 years) followed-up for 11.9 ± 6.6 months.ResultsThe ACE D and −240T allele frequency significantly increased according to the NYHA functional class (P = 0.0002 and P < 0.0001, respectively).No significant difference in ACE polymorphism genotype distribution and allele frequency according to N-terminal pro-brain natriuretic peptide tertiles was observed. At multinomial regression analysis, ACE D but not −240T allele has been evidenced to be a significant and independent predictor of severity for both NYHA III and IV classes (P = 0.01 and P = 0.004, respectively). The ACE D allele prevalence was higher, even if not significantly in both death and rehospitalization groups in comparison with survivors and nonrehospitalized (P = 0.6 and P = 0.9, respectively). No difference in −240T allele frequency has been observed for the ACE −240A>T polymorphism, in relation to both death and rehospitalization (P = 0.1 and P = 0.6, respectively).ConclusionsThis study suggests that ACE I/D polymorphism might represent a predisposing factor to severe heart failure, independently of well-known prognostic markers.


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