scholarly journals Genetic variation inChlamydia trachomatisand their hosts: impact on disease severity and tissue tropism

2013 ◽  
Vol 8 (9) ◽  
pp. 1129-1146 ◽  
Author(s):  
Hossam Abdelsamed ◽  
Jan Peters ◽  
Gerald I Byrne
Keyword(s):  
Genetic Variation ◽  
Disease Severity ◽  
Tissue Tropism

scholarly journals Genetic Variation in Neisseria meningitidis Does Not Influence Disease Severity in Meningococcal Meningitis

2020 ◽  
Vol 7 ◽  
Author(s):  
Philip H. C. Kremer ◽  
John A. Lees ◽  
Bart Ferwerda ◽  
Arie van de Ende ◽  
Matthijs C. Brouwer ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Neisseria Meningitidis ◽  
Disease Severity ◽  
Meningococcal Meningitis

scholarly journals Genetic variation in the farnesoid X-receptor predicts Crohn’s disease severity in female patients

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Aze Wilson ◽  
Qian Wang ◽  
Ahmed A. Almousa ◽  
Laura E. Jansen ◽  
Yun-hee Choi ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Disease Severity ◽  
Farnesoid X Receptor ◽  
Female Patients

scholarly journals Genetic Variation of DKK3 May Modify Renal Disease Severity in ADPKD

2010 ◽  
Vol 21 (9) ◽  
pp. 1510-1520 ◽  
Author(s):  
Michelle Liu ◽  
Sally Shi ◽  
Sean Senthilnathan ◽  
Julie Yu ◽  
Elliot Wu ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Renal Disease ◽  
Disease Severity

scholarly journals Pediatric COVID-19 in Southern California: clinical features and viral genetic diversity

2020 ◽  
Author(s):  
U Pandey ◽  
R Yee ◽  
M Precit ◽  
M Bootwalla ◽  
A Ryutov ◽  
...  
Keyword(s):  
Genetic Diversity ◽  
Genetic Variation ◽  
Disease Severity ◽  
Clinical Features ◽  
Southern California ◽  
Evolutionary Rate ◽  
Rna Viruses ◽  
Epidemiological Investigation ◽  
Multiple Introductions ◽  
Clinical Presentations

AbstractAs the pandemic enters its fifth month, information regarding COVID-19 in children is rapidly evolving. Here, we explore clinical features and SARS-CoV-2 genetic variation in children presenting with COVID-19. We observed diverse clinical presentations and identified association between disease severity, viral load and age. SARS-CoV-2 genomes from the patients showed limited number of variations and an evolutionary rate comparable to other RNA viruses. We did not identify correlation between disease severity and viral genetic variations. Epidemiological investigation revealed multiple introductions of virus into Southern California.

scholarly journals Evolutionary Study of COVID-19 Disease Severity in India for the Genetic Variation and Prevention of Disease Progression

2021 ◽  
Author(s):  
Shyama Datt ◽  
Nasreen Akhtar ◽  
Thakur Datt ◽  
Narendra Pal Singh
Keyword(s):  
Genetic Variation ◽  
Phylogenetic Tree ◽  
Disease Progression ◽  
Disease Severity ◽  
Complex Disease ◽  
Point Mutations ◽  
Strain Variation ◽  
Phylogenetic Tree Analysis ◽  
Evolutionary Changes ◽  
Mutational Study

Abstract Introduction:Coronaviruses (CoV) have been responsible for three epidemics in the 21st century, including Severe Acute Respiratory Syndrome (SARS) in 2003. Corona virus is a single strand ribonucleic acid which is genotypically and phenotypically diverse.Method:The phylogenetic tree and Entropy plot are used to show the strain variation with root difference or Boot strip changes among various nucleotide plots with mutational changes (19).Therefore, we would like to explain evolutionary changes in other countries compared to India and in different states of India. To evaluate the strain variation with their mutation and adaptation of the environment with the virus or may be due to several passages occurring over a period of time.Results:For phylogenetic tree analysis, we have selected 8-8 isolates from each state, Assam, Chhattisgarh, Delhi, Gujarat, Haryana, Himachal Pradesh, Karnataka, Kerala, Orissa, Maharashtra, Punjab, Telangana, Uttar Pradesh and West Bengal. Total 74 isolates were selected from given states for making of phylogenetic tree and mutational study. There were many point mutations found.Discussion:According to our study, we found a several point mutation occurred among the sequence submitted in gene bank database that is same as China which has been reported. This study was conducted to systematic analysis on the genomic data of NCBI. This work is also significant in terms of mutational research. Evolutionary changes and approach a new strain through the mutational study done by BioEdit and MEGA 6.0 software. The bioinformatics and the statistical genetic analysis may contribute for study of COVID-19 as other infection and complex disease. This study is used understand the host–pathogen interaction and to contain the COVID-19 outbreak.Conclusion:This study highlighted the evolutionary changes occurred in the COVID-19 disease severity variation in strain for the prevention and mutation. We reported the genetic study of COVID-19 disease with their association in already submitted strain of database for the study of their genetic variation as well as disease progression.

scholarly journals Genetic variation in transmembrane 6 superfamily member 2 and the risk of nonalcoholic fatty liver disease and histological disease severity

Hepatology ◽  
2015 ◽  
Vol 61 (2) ◽  
pp. 515-525 ◽  
Author(s):  
Silvia Sookoian ◽  
Gustavo O. Castaño ◽  
Romina Scian ◽  
Pablo Mallardi ◽  
Tomas Fernández Gianotti ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Liver Disease ◽  
Fatty Liver ◽  
Nonalcoholic Fatty Liver Disease ◽  
Disease Severity ◽  
Fatty Liver Disease ◽  
Nonalcoholic Fatty Liver

scholarly journals Single nucleotide variants in Pseudomonas aeruginosa populations from sputum correlate with baseline lung function and predict disease progression in individuals with cystic fibrosis

2021 ◽  
Author(s):  
Morteza M Saber ◽  
Jannik Donner ◽  
Inès Levade ◽  
Nicole Acosta ◽  
Michael D Perkins ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Pseudomonas Aeruginosa ◽  
Genetic Variation ◽  
Lung Function ◽  
Lung Disease ◽  
Disease Severity ◽  
Single Nucleotide Variants ◽  
Lung Function Decline ◽  
Single Nucleotide ◽  
Lung Disease Severity

Complex polymicrobial communities inhabit the lungs of individuals with cystic fibrosis (CF) and contribute to the decline in lung function. However, the severity of lung disease and its progression in CF patients are highly variable and imperfectly predicted by host clinical factors at baseline, CFTR mutations in the host genome, or sputum polymicrobial community variation. The opportunistic pathogen Pseudomonas aeruginosa (Pa) dominates airway infections in the majority of CF adults. Here we hypothesized that genetic variation within Pa populations would be predictive of lung disease severity. To quantify Pa genetic variation within whole CF sputum samples, we used deep amplicon sequencing on a newly developed custom Ion AmpliSeq panel of 209 Pa genes previously associated with the host pathoadaptation and pathogenesis of CF infection. We trained machine learning models using Pa single nucleotide variants (SNVs), clinical and microbiome diversity data to classify lung disease severity at the time of sputum sampling, and to predict future lung function decline over five years in a cohort of 54 adult CF patients with chronic Pa infection. The models using Pa SNVs alone classified baseline lung disease with good sensitivity and specificity, with an area under the receiver operating characteristic curve (AUROC) of 0.87. While the models were less predictive of future lung function decline, they still achieved an AUROC of 0.74. The addition of clinical data to the models, but not microbiome community data, yielded modest improvements (baseline lung function: AUROC=0.92; lung function decline: AUROC=0.79), highlighting the predictive value of the AmpliSeq data. Together, our work provides a proof-of-principle that Pa genetic variation in sputum is strongly associated with baseline lung disease, moderately predicts future lung function decline, and provides insight into the pathobiology of Pa's effect on CF.

scholarly journals Genetic variation in CFTR and modifier loci may modulate cystic fibrosis disease severity

2020 ◽  
Vol 19 ◽  
pp. S10-S14 ◽  
Author(s):  
Alekh Paranjapye ◽  
Manon Ruffin ◽  
Ann Harris ◽  
Harriet Corvol
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Variation ◽  
Disease Severity
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