scholarly journals Single nucleotide variant at the alphaVbeta3 integrin associated to Andes virus infection susceptibility.

2018 ◽  
Author(s):  
Constanza Martinez-Valdebenito ◽  
Jenniffer Angulo ◽  
N. Le Corre ◽  
Clauda Marco ◽  
Cecilia Vial ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Genetic Background ◽  
Protein A ◽  
Cell Protein ◽  
Susceptible Genotype ◽  
Single Nucleotide ◽  
Household Contacts ◽  
Andes Virus ◽  
Infection Susceptibility ◽  
Host Genetic

Background ANDV, agent of hantavirus cardiopulmonary syndrome, enters through integrin cell protein. A change from leucine-to-proline at residues 33 in the PSI-domain (L33P) inhibits ANDV recognition. We assessed the association between this human-variant and ANDV infection. Results We defined susceptible genotype to “TT” (coding leucine) and protective “CC” (coding proline). TT was in 89.2% (66/74) of a first cohort of ANDV-cases and in 60% (63/105) of exposed close-household contacts who remained unifected (p<0.05). Protective genotype was absent in all 85 ANDV cases in both cohorts and was present at 11.4% in exposed close-household contacts who remained uninfected. Logistic regression modeling to become a case had an OR 6.2-12.6 (p<0.05) in presence of TT and ANDV well-known risk activities. Moreover, OR of 7.3 was obtained when TT condition was analyzed for two groups exposed to the same environmental risk. Conclusion Host genetic background has an important role in ANDV-infection susceptibility in the studied population.

scholarly journals A Single-Nucleotide Polymorphism of αVβ3 Integrin Is Associated with the Andes Virus Infection Susceptibility

Viruses ◽  
2019 ◽  
Vol 11 (2) ◽  
pp. 169 ◽  
Author(s):  
Constanza Martínez-Valdebenito ◽  
Jenniffer Angulo ◽  
Nicole Le Corre ◽  
Claudia Marco ◽  
Cecilia Vial ◽  
...  
Keyword(s):  
Αvβ3 Integrin ◽  
Risk Of Infection ◽  
Nucleotide Polymorphism ◽  
Single Nucleotide ◽  
Household Contacts ◽  
The Andes ◽  
Andes Virus ◽  
Infection Susceptibility ◽  
Human Polymorphism ◽  
Host Genetic

The Andes Orthohantavirus (ANDV), which causes the hantavirus cardiopulmonary syndrome, enters cells via integrins, and a change from leucine to proline at residue 33 in the PSI domain (L33P), impairs ANDV recognition. We assessed the association between this human polymorphism and ANDV infection. We defined susceptible and protective genotypes as “TT” (coding leucine) and “CC” (coding proline), respectively. TT was present at a rate of 89.2% (66/74) among the first cohort of ANDV cases and at 60% (63/105) among exposed close-household contacts, who remained uninfected (p < 0.05). The protective genotype (CC) was absent in all 85 ANDV cases, in both cohorts, and was present at 11.4% of the exposed close-household contacts who remained uninfected. Logistic regression modeling for risk of infection had an OR of 6.2–12.6 (p < 0.05) in the presence of TT and well-known ANDV risk activities. Moreover, an OR of 7.3 was obtained when the TT condition was analyzed for two groups exposed to the same environmental risk. Host genetic background was found to have an important role in ANDV infection susceptibility, in the studied population.

scholarly journals Single nucleotide polymorphisms associated with osteochondrosis dissecans in Warmblood horses at different stages of training

2017 ◽  
Vol 57 (4) ◽  
pp. 608 ◽  
Author(s):  
D. Lewczuk ◽  
M. Hecold ◽  
A. Ruść ◽  
M. Frąszczak ◽  
A. Bereznowski ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Single Nucleotide Polymorphisms ◽  
Genetic Background ◽  
Osteochondrosis Dissecans ◽  
Additive Model ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Environmental Interactions ◽  
Markov Chain Method ◽  
Definition Of

The genetic background of osteochondrosis dissecans (OCD) has been studied for years, but the compatibility of the position of markers has not been reached between results, probably because of unknown additional effects that may influence the results, such as definition of the trait, gene–environmental interactions and the dynamics of trait development. The aim of the study was to identify single nucleotide polymorphisms (SNP) associated with the occurrence of OCD in Polish Warmblood sport breed horses in two different stages of training. Warmblood horses (87 stallions and 114 mares) were phenotyped and genotyped. Horses were X-rayed twice, at the beginning and at the end of the tests (100 days for stallions and 60 days for mares). Ten images per horse were collected using digital equipment for the fetlocks, stifles and hocks. The DNA was genotyped using the Illumina Neogen Equine Array. Statistical analysis included the Cochran–Armitage test and logistic regression assuming an additive model of inheritance. The Monte Carlo Markov Chain method was also applied to determine heritability coefficients. Nineteen and twenty SNP were identified that were significantly associated with OCD using logistic regression at the first and second stage of training, respectively. Four SNP were significant for both stages of training. The estimation of the heritability of a horse’s OCD status does not achieve the same level at different stages of training. The study on the genetic background of horse OCD should include as much detailed information on their training as possible.

scholarly journals Tuberculin Skin Test Reactivity Is Dependent on Host Genetic Background in Colombian Tuberculosis Household Contacts

2012 ◽  
Vol 54 (7) ◽  
pp. 968-971 ◽  
Author(s):  
Aurélie Cobat ◽  
Luis F. Barrera ◽  
Hanna Henao ◽  
Patricia Arbeláez ◽  
Laurent Abel ◽  
...  
Keyword(s):  
Tuberculin Skin Test ◽  
Skin Test ◽  
Genetic Background ◽  
Skin Test Reactivity ◽  
Household Contacts ◽  
Host Genetic

scholarly journals Exercise-mitigated gender-based differences in aging: From genetic alterations to heart performance

2020 ◽  
Author(s):  
Denise Börzsei ◽  
Daniel Priksz ◽  
Renáta Szabó ◽  
Mariann Bombicz ◽  
Zoltán Karácsonyi ◽  
...  
Keyword(s):  
Heart Function ◽  
Protein A ◽  
Genetic Alterations ◽  
Functional Adaptation ◽  
Voluntary Exercise ◽  
Female Rats ◽  
Cell Protein ◽  
Calcium Balance ◽  
Male And Female Rats ◽  
Heart Performance

The prevalence of cardiovascular diseases dramatically increases with age, therefore striving to maintain a physiological heart function became particularly important. We aimed to study the voluntary exercise evoked cardioprotective effects in aged male and female rats, from genetic alterations to changes in heart performance. We divided 20-month-old female and male Wistar rats to control and running groups. After the 12-week-long experimental period, echocardiographic measurements were performed. Afterwards, hearts were either removed for biochemical measurements or mounted into a Langendorff-perfusion system to detect infarct size. The following genes and their proteins were analyzed from heart: catechol-O-methyltransferase (Comt), endothelin-1 (Esm1), Purkinje cell protein-4 (Pcp4), and osteoglycin (Ogn). Recreational exercise caused functional improvements; however, changes were more prominent in males. Cardiac expression of Comt and Ogn were reduced as a result of exercise in aged males, while Pcp4 and Esm1 showed a marked overexpression, along with a markedly improved diastolic function. The key result of this study is that exercise enhanced the expression of the Pcp4 gene and protein, a recently described regulator of calcium balance in cardiomyocytes, and suppressed Comt and Ogn gene expression, that has been associated with impaired cardiac function. In addition, as a result of exercise, a significant improvement was observed in the size of infarct elicited by left anterior descending coronary artery occlusion. Our results clearly show that age and sex-dependent changes were both apparent in key proteins linked to cardiovascular physiology. Exercise-moderated fundamental genetic alterations may have contributed to the functional adaptation of the heart.

scholarly journals Temporal and Anatomical Host Resistance to Chronic Salmonella Infection Is Quantitatively Dictated by Nramp1 and Influenced by Host Genetic Background

PLoS ONE ◽  
2014 ◽  
Vol 9 (10) ◽  
pp. e111763 ◽  
Author(s):  
Wendy P. Loomis ◽  
Matthew L. Johnson ◽  
Alicia Brasfield ◽  
Marie-Pierre Blanc ◽  
Jaehun Yi ◽  
...  
Keyword(s):  
Host Resistance ◽  
Genetic Background ◽  
Salmonella Infection ◽  
Host Genetic

scholarly journals Association between the c. 2495 A>G ATP7B Polymorphism and Sporadic Alzheimer's Disease

2011 ◽  
Vol 2011 ◽  
pp. 1-9 ◽  
Author(s):  
Serena Bucossi ◽  
Stefania Mariani ◽  
Mariacarla Ventriglia ◽  
Renato Polimanti ◽  
Massimo Gennarelli ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphism ◽  
Logistic Regression ◽  
Atp7b Gene ◽  
Regression Analyses ◽  
Susceptibility Loci ◽  
Nucleotide Polymorphism ◽  
Sporadic Alzheimer’S Disease ◽  
Single Nucleotide

Nonceruloplasmin-bound copper (“free”) is reported to be elevated in Alzheimer's disease (AD). In Wilson's disease (WD) Cu-ATPase 7B protein tightly controls free copper body levels. To explore whether the ATP7B gene harbours susceptibility loci for AD, we screened 180 AD chromosomes for sequence changes in exons 2, 5, 8, 10, 14, and 16, where most of the Mediterranean WD-causing mutations lie. No WD mutation, but sequence changes corresponding to c.1216 T>G Single-Nucleotide Polymorphism (SNP) and c.2495 A>G SNP were found. Thereafter, we genotyped 190 AD patients and 164 controls for these SNPs frequencies estimation. Logistic regression analyses revealed either a trend for the c.1216 SNP (P=.074) or a higher frequency for c.2495 SNP of the GG genotype in patients, increasing the probability of AD by 74% (P=.028). Presence of the GG genotype in ATP7B c.2495 could account for copper dysfunction in AD which has been shown to raise the probability of the disease.

scholarly journals Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases

2018 ◽  
Vol 15 (4) ◽  
Author(s):  
Elena Yu. Bragina ◽  
Irina A. Goncharova ◽  
Anna F. Garaeva ◽  
Evgeniy V. Nemerov ◽  
Anastasija A. Babovskaya ◽  
...  
Keyword(s):  
Bronchial Asthma ◽  
Genetic Background ◽  
Regulation Of Gene Expression ◽  
Common Phenomenon ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Multiple Factors ◽  
Comorbid Diseases ◽  
Set Up ◽  
Molecular Relationships

AbstractComorbidity, a co-incidence of several disorders in an individual, is a common phenomenon. Their development is governed by multiple factors, including genetic variation. The current study was set up to look at associations between isolated and comorbid diseases of bronchial asthma and hypertension, on one hand, and single nucleotide polymorphisms associated with regulation of gene expression (eQTL), on the other hand. A total of 96 eQTL SNPs were genotyped in 587 Russian individuals. Bronchial asthma alone was found to be associated with rs1927914 (TLR4), rs1928298 (intergenic variant), and rs1980616 (SERPINA1); hypertension alone was found to be associated with rs11065987 (intergenic variant); rs2284033 (IL2RB), rs11191582 (NT5C2), and rs11669386 (CARD8); comorbidity between asthma and hypertension was found to be associated with rs1010461 (ANG/RNASE4), rs7038716, rs7026297 (LOC105376244), rs7025144 (intergenic variant), and rs2022318 (intergenic variant). The results suggest that genetic background of comorbidity of asthma and hypertension is different from genetic backgrounds of both diseases manifesting isolated.

scholarly journals Maternal Pregnancy Associated Plasma Protein-A Levels in Late First Trimester as a Predictor of Miscarriage- A Cross-sectional Study

2021 ◽  
Author(s):  
Nivedita Sinha ◽  
Alpana Singh ◽  
BD Banerjee ◽  
Rachna Agarwal ◽  
Himsweta Srivastva
Keyword(s):  
Logistic Regression ◽  
Sensitivity And Specificity ◽  
Plasma Protein ◽  
Protein A ◽  
Predictive Marker ◽  
First Trimester ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Cross Sectional ◽  
Asymptomatic Women

Indroduction: Miscarriage is the most common complication of pregnancy. Defective implantation is one of the common causes of miscarriage. Pregnancy Associated Plasma Protein-A (PAPP-A) is secreted from syncytiotrophoblast and it enables trophoblast invasion. Few studies have shown association of PAPP-A with miscarriage. However, there is limited data available to establish the role of PAPP-A as a predictive marker of miscarriage, especially in Indian population. Aim: To determine the potential of maternal PAPP-A level estimation in asymptomatic women in late first trimester (10-13 weeks) with viable foetus in predicting subsequent miscarriage. Materials and Methods: This was an observational, cross-sectional study conducted from November 2016 to April 2018 at University College of Medical Science and Guru Teg Bahadur Hospital, Delhi, India. Asymptomatic pregnant women (N=500) at 10-13 weeks of gestation were recruited from an antenatal clinic after confirmation of foetal viability. A 2 mL of blood sample was collected and serum PAPP-A level was measured. Independent t-test and Chi-square test was used to compare continuous data and Mann-Whitney U test was used to compare PAPP-A Multiple of Median (MOM). Logistic regression was used to estimate risk of miscarriage. Results: Out of 500 participants, 9 were lost to follow-up. From remaining N=491, 32 (6.5%) women had a miscarriage. PAPP-A levels were significantly decreased in miscarriage group compared to ongoing pregnancy group with median MOM 0.116 (0.080-0.17) and 1.25 (0.665-3.249) respectively (p-value <0.001). PAPP-A MOM value of ≤10th percentile sensitivity and specificity of detection of miscarriage was 81.25% and 94.98% and at ≤5th percentile sensitivity and specificity was 40.62% and 97.82%, respectively. Lower the percentile cut-off of serum PAPP-A value, higher was the specificity and positive predictive value for prediction of miscarriage. By applying logistic regression we found that if PAPP-A MOM decreases by 1 unit the chances of miscarriage increased by 1.2 times. By this model 63.2% of cases could be explained (Nagelkerke R Square=0.632). For prediction of pregnancies likely to miscarry, the area under Receiver Operator Characteristic (ROC) curve (95% CI) was 0.969 (0.955-0.983). Conclusion: Low serum PAPP-A levels from asymptomatic women in late 1st trimester is a good predictive marker of miscarriage.

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