scholarly journals A whole genome screen for linkage disequilibrium in multiple sclerosis confirms disease associations with regions previously linked to susceptibility

Brain ◽  
2002 ◽  
Vol 125 (6) ◽  
pp. 1337-1347 ◽  
Author(s):  
Stephen Sawcer ◽  
Mel Maranian ◽  
Efrosini Setakis ◽  
Val Curwen ◽  
Eva Akesson ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Linkage Disequilibrium ◽  
Whole Genome ◽  
Genome Screen ◽  
Disease Associations

A whole genome screen for linkage disequilibrium in multiple sclerosis performed in a continental Italian population

2003 ◽  
Vol 143 (1-2) ◽  
pp. 97-100 ◽  
Author(s):  
Maria Liguori ◽  
Stephen Sawcer ◽  
Efrosini Setakis ◽  
Alastair Compston ◽  
Mara Giordano ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Linkage Disequilibrium ◽  
Whole Genome ◽  
Italian Population ◽  
Genome Screen

A whole genome screen for association in Polish multiple sclerosis patients

2003 ◽  
Vol 143 (1-2) ◽  
pp. 107-111 ◽  
Author(s):  
Bartosz Bielecki ◽  
Marcin P. Mycko ◽  
Ewa Tronczyńska ◽  
Marek Bieniek ◽  
Stephen Sawcer ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Whole Genome ◽  
Genome Screen ◽  
Multiple Sclerosis Patients

A whole genome screen for linkage in Turkish multiple sclerosis

2003 ◽  
Vol 143 (1-2) ◽  
pp. 17-24 ◽  
Author(s):  
M. Eraksoy ◽  
M. Kurtuncu ◽  
G. Akman-Demir ◽  
M. Kılınc ◽  
M. Gedizlioglu ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Whole Genome ◽  
Genome Screen

scholarly journals A whole genome screen for association with multiple sclerosis in Portuguese patients

2003 ◽  
Vol 143 (1-2) ◽  
pp. 112-115 ◽  
Author(s):  
M. Santos ◽  
J. Pinto-Basto ◽  
M.E. Rio ◽  
M.J. Sá ◽  
A. Valença ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Whole Genome ◽  
Genome Screen

A genome screen for linkage disequilibrium in Turkish multiple sclerosis

2003 ◽  
Vol 143 (1-2) ◽  
pp. 129-132 ◽  
Author(s):  
M. Eraksoy ◽  
A. Hensiek ◽  
M. Kurtuncu ◽  
G. Akman-Demir ◽  
M. Kılınc ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Linkage Disequilibrium ◽  
Genome Screen ◽  
A Genome

A genome screen for linkage disequilibrium in HLA-DRB1*15-positive Germans with multiple sclerosis based on 4666 microsatellite markers

2002 ◽  
Vol 111 (3) ◽  
pp. 270-277 ◽  
Author(s):  
Rene Goedde ◽  
Stephen Sawcer ◽  
Stefan Boehringer ◽  
Bianca Miterski ◽  
Eckhart Sindern ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Linkage Disequilibrium ◽  
Microsatellite Markers ◽  
Genome Screen ◽  
A Genome

Refining the results of a whole-genome screen based on 4666 microsatellite markers for defining predisposition factors for multiple sclerosis

2004 ◽  
Vol 25 (14) ◽  
pp. 2212-2218 ◽  
Author(s):  
René Gödde ◽  
Viktoria Nigmatova ◽  
Peter Jagiello ◽  
Eckhart Sindern ◽  
Michael Haupts ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Microsatellite Markers ◽  
Whole Genome ◽  
Genome Screen

scholarly journals Genome-wide polygenic analysis of multiple sclerosis markers

2021 ◽  
Vol 13 (1S) ◽  
pp. 31-38
Author(s):  
Ya. R. Timasheva ◽  
T. R. Nasibullin ◽  
I. A. Tuktarova ◽  
V. V. Erdman ◽  
T. R. Galiullin ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Ethnic Groups ◽  
Noncoding Rna ◽  
Polymorphism Analysis ◽  
Polymorphic Loci ◽  
Lectin Domain ◽  
Genome Wide ◽  
A Genome ◽  
Disease Associations ◽  
Polygenic Analysis

Objective: to perform a genome-wide polygenic analysis of multiple sclerosis (MS) markers in the ethnic groups of Bashkirs, Russians, and Tatars living in the Republic of Bashkortostan (Russian Federation).Patients and methods. Genotyping was performed using allele-specific polymerase chain reaction (PCR) and PCR-restriction fragment length polymorphism analysis of genes of the human leukocyte differentiation antigens CD6 (rs17824933), CD40 (rs6074022), CD58 (rs2300747), CD86 (rs9282641), transcription factors SOX8 (rs2744148) and ZBTB46 (rs6062314), beta-mannosidase MANBA (rs228614), C-type lectin domain CLEC16A (rs12708716), ribosomal protein S6 kinase B1 RPS6KB1 (rs180515), and long noncoding RNA gene PVT1 (rs759648) in 644 patients with MS and 1408 controls. Multilocus analysis of the disease associations with combinations of genotypes and alleles of the studied polymorphic loci was performed using the APSampler algorithm.Results and discussion. We determined the distribution of genotype and allele frequencies of the studied polymorphic loci in the ethnic groups of Bashkirs, Russians, and Tatars. We also observed disease associations with CD58 (rs2300747) and RPS6KB1 (rs180515) polymorphic loci in Russian men, CD86 (rs9282641) in Russian, PVT1 (rs759648) in Tatar women, CD40 (rs6074022) in Bashkir men, and identified 19 combinations of genotypes and/or alleles significantly associated with MS.Conclusion. Based on the genome-wide polygenic analysis of MS markers, we identified ethno- and gender-specific combined markers of the disease susceptibility.

scholarly journals A whole-genome screen identifies Salmonella enterica serovar Typhi genes involved in fluoroquinolone susceptibility

2020 ◽  
Vol 75 (9) ◽  
pp. 2516-2525
Author(s):  
A Keith Turner ◽  
Sabine E Eckert ◽  
Daniel J Turner ◽  
Muhammud Yasir ◽  
Mark A Webber ◽  
...  
Keyword(s):  
Salmonella Enterica ◽  
Insertion Site ◽  
Whole Genome ◽  
Genome Screen ◽  
Polysaccharide Biosynthesis ◽  
Salmonella Enterica Serovar Typhi ◽  
Transposon Insertion ◽  
Associated Functions ◽  
The Impact ◽  
Insertion Mutations

Abstract Objectives A whole-genome screen at sub-gene resolution was performed to identify candidate loci that contribute to enhanced or diminished ciprofloxacin susceptibility in Salmonella enterica serovar Typhi. Methods A pool of over 1 million transposon insertion mutants of an S. Typhi Ty2 derivative were grown in a sub-MIC concentration of ciprofloxacin, or without ciprofloxacin. Transposon-directed insertion site sequencing (TraDIS) identified relative differences between the mutants that grew following the ciprofloxacin treatment compared with the untreated mutant pool, thereby indicating which mutations contribute to gain or loss of ciprofloxacin susceptibility. Results Approximately 88% of the S. Typhi strain’s 4895 annotated genes were assayed, and at least 116 were identified as contributing to gain or loss of ciprofloxacin susceptibility. Many of the identified genes are known to influence susceptibility to ciprofloxacin, thereby providing method validation. Genes were identified that were not known previously to be involved in susceptibility, and some of these had no previously known phenotype. Susceptibility to ciprofloxacin was enhanced by insertion mutations in genes coding for efflux, other surface-associated functions, DNA repair and expression regulation, including phoP, barA and marA. Insertion mutations that diminished susceptibility were predominantly in genes coding for surface polysaccharide biosynthesis and regulatory genes, including slyA, emrR, envZ and cpxR. Conclusions A genomics approach has identified novel contributors to gain or loss of ciprofloxacin susceptibility in S. Typhi, expanding our understanding of the impact of fluoroquinolones on bacteria and of mechanisms that may contribute to resistance. The data also demonstrate the power of the TraDIS technology for antibacterial research.

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