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Article ; Online: Highly variable hearing loss due to POU4F3 (c.37del) is revealed by longitudinal, frequency specific analyses.

European journal of human genetics : EJHG

2023 Volume 31, Issue 7, Page(s) 815–823

Abstract: Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are generated from cross-sectional regression equations and used to predict the audiogram phenotype ... ...

Abstract	Genotype-phenotype correlations add value to the management of families with hereditary hearing loss (HL), where age-related typical audiograms (ARTAs) are generated from cross-sectional regression equations and used to predict the audiogram phenotype across the lifespan. A seven-generation kindred with autosomal dominant sensorineural HL (ADSNHL) was recruited and a novel pathogenic variant in POU4F3 (c.37del) was identified by combining linkage analysis with whole exome sequencing (WES). POU4F3 is noted for large intrafamilial variation including the age of onset of HL, audiogram configuration and presence of vestibular impairment. Sequential audiograms and longitudinal analyses reveal highly variable audiogram features among POU4F3 (c.37del) carriers, limiting the utility of ARTAs for clinical prognosis and management of HL. Furthermore, a comparison of ARTAs against three previously published families (1 Israeli Jewish, 2 Dutch) reveals significant interfamilial differences, with earlier onset and slower deterioration. This is the first published report of a North American family with ADSNHL due to POU4F3, the first report of the pathogenic c.37del variant, and the first study to conduct longitudinal analysis, extending the phenotypic spectrum of DFNA15.
MeSH term(s)	Humans ; Cross-Sectional Studies ; Homeodomain Proteins/genetics ; Hearing Loss/genetics ; Hearing Loss, Sensorineural/diagnosis ; Hearing Loss, Sensorineural/genetics ; Hearing Loss, Sensorineural/pathology ; Deafness ; Pedigree ; Transcription Factor Brn-3C/genetics
Chemical Substances	Homeodomain Proteins ; POU4F3 protein, human ; Transcription Factor Brn-3C
Language	English
Publishing date	2023-04-19
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1141470-4
ISSN	1476-5438 ; 1018-4813
ISSN (online)	1476-5438
ISSN	1018-4813
DOI	10.1038/s41431-023-01358-0
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Article ; Online: Autosomal dominant non-syndromic hearing loss maps to DFNA33 (13q34) and co-segregates with splice and frameshift variants in ATP11A, a phospholipid flippase gene.

Pater, Justin A / Penney, Cindy / O'Rielly, Darren D / Griffin, Anne / Kamal, Lara / Brownstein, Zippora / Vona, Barbara / Vinkler, Chana / Shohat, Mordechai / Barel, Ortal / French, Curtis R / Singh, Sushma / Werdyani, Salem / Burt, Taylor / Abdelfatah, Nelly / Houston, Jim / Doucette, Lance P / Squires, Jessica / Glaser, Fabian /

Roslin, Nicole M / Vincent, Daniel / Marquis, Pascale / Woodland, Geoffrey / Benoukraf, Touati / Hawkey-Noble, Alexia / Avraham, Karen B / Stanton, Susan G / Young, Terry-Lynn

Human genetics

2022 Volume 141, Issue 3-4, Page(s) 431–444

Abstract: Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland family with a variable form of ... ...

Abstract	Sequencing exomes/genomes have been successful for identifying recessive genes; however, discovery of dominant genes including deafness genes (DFNA) remains challenging. We report a new DFNA gene, ATP11A, in a Newfoundland family with a variable form of bilateral sensorineural hearing loss (SNHL). Genome-wide SNP genotyping linked SNHL to DFNA33 (LOD = 4.77), a locus on 13q34 previously mapped in a German family with variable SNHL. Whole-genome sequencing identified 51 unremarkable positional variants on 13q34. Continuous clinical ascertainment identified several key recombination events and reduced the disease interval to 769 kb, excluding all but one variant. ATP11A (NC_000013.11: chr13:113534963G>A) is a novel variant predicted to be a cryptic donor splice site. RNA studies verified in silico predictions, revealing the retention of 153 bp of intron in the 3' UTR of several ATP11A isoforms. Two unresolved families from Israel were subsequently identified with a similar, variable form of SNHL and a novel duplication (NM_032189.3:c.3322_3327+2dupGTCCAGGT) in exon 28 of ATP11A extended exon 28 by 8 bp, leading to a frameshift and premature stop codon (p.Asn1110Valfs43Ter). ATP11A is a type of P4-ATPase that transports (flip) phospholipids from the outer to inner leaflet of cell membranes to maintain asymmetry. Haploinsufficiency of ATP11A, the phospholipid flippase that specially transports phosphatidylserine (PS) and phosphatidylethanolamine (PE), could leave cells with PS/PE at the extracellular side vulnerable to phagocytic degradation. Given that surface PS can be pharmaceutically targeted, hearing loss due to ATP11A could potentially be treated. It is also likely that ATP11A is the gene underlying DFNA33.
MeSH term(s)	Humans ; 3' Untranslated Regions ; ATP-Binding Cassette Transporters/genetics ; Deafness/genetics ; Hearing Loss/genetics ; Hearing Loss, Sensorineural/genetics ; Mutation ; Pedigree ; Phospholipids/metabolism ; RNA Splice Sites
Chemical Substances	3' Untranslated Regions ; ATP-Binding Cassette Transporters ; ATP11A protein, human (EC 7.6.2.1) ; Phospholipids ; RNA Splice Sites
Language	English
Publishing date	2022-03-12
Publishing country	Germany
Document type	Journal Article
ZDB-ID	223009-4
ISSN	1432-1203 ; 0340-6717
ISSN (online)	1432-1203
ISSN	0340-6717
DOI	10.1007/s00439-022-02444-x
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Article ; Online: GenPipes: an open-source framework for distributed and scalable genomic analyses.

GigaScience

2019 Volume 8, Issue 6

Abstract: Background: With the decreasing cost of sequencing and the rapid developments in genomics technologies and protocols, the need for validated bioinformatics software that enables efficient large-scale data processing is growing.: Findings: Here we ... ...

Abstract	Background: With the decreasing cost of sequencing and the rapid developments in genomics technologies and protocols, the need for validated bioinformatics software that enables efficient large-scale data processing is growing. Findings: Here we present GenPipes, a flexible Python-based framework that facilitates the development and deployment of multi-step workflows optimized for high-performance computing clusters and the cloud. GenPipes already implements 12 validated and scalable pipelines for various genomics applications, including RNA sequencing, chromatin immunoprecipitation sequencing, DNA sequencing, methylation sequencing, Hi-C, capture Hi-C, metagenomics, and Pacific Biosciences long-read assembly. The software is available under a GPLv3 open source license and is continuously updated to follow recent advances in genomics and bioinformatics. The framework has already been configured on several servers, and a Docker image is also available to facilitate additional installations. Conclusions: GenPipes offers genomics researchers a simple method to analyze different types of data, customizable to their needs and resources, as well as the flexibility to create their own workflows.
MeSH term(s)	DNA Methylation ; Epigenomics/methods ; Genomics/methods ; Humans ; Metagenomics/methods ; Sequence Analysis, DNA/methods ; Sequence Analysis, RNA/methods ; Software
Language	English
Publishing date	2019-06-10
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2708999-X
ISSN	2047-217X ; 2047-217X
ISSN (online)	2047-217X
ISSN	2047-217X
DOI	10.1093/gigascience/giz037
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Article ; Online: Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI.

Yang, Yunju / Knol, Maria J / Wang, Ruiqi / Mishra, Aniket / Liu, Dan / Luciano, Michelle / Teumer, Alexander / Armstrong, Nicola / Bis, Joshua C / Jhun, Min A / Li, Shuo / Adams, Hieab H H / Aziz, Nasir Ahmad / Bastin, Mark E / Bourgey, Mathieu / Brody, Jennifer A / Frenzel, Stefan / Gottesman, Rebecca F / Hosten, Norbert /

Hou, Lifang / Kardia, Sharon L R / Lohner, Valerie / Marquis, Pascale / Maniega, Susana Muñoz / Satizabal, Claudia L / Sorond, Farzaneh A / Valdés Hernández, Maria C / van Duijn, Cornelia M / Vernooij, Meike W / Wittfeld, Katharina / Yang, Qiong / Zhao, Wei / Boerwinkle, Eric / Levy, Daniel / Deary, Ian J / Jiang, Jiyang / Mather, Karen A / Mosley, Thomas H / Psaty, Bruce M / Sachdev, Perminder S / Smith, Jennifer A / Sotoodehnia, Nona / DeCarli, Charles S / Breteler, Monique M B / Ikram, M Arfan / Grabe, Hans J / Wardlaw, Joanna / Longstreth, W T / Launer, Lenore J / Seshadri, Sudha / Debette, Stephanie / Fornage, Myriam

Brain : a journal of neurology

2022 Volume 146, Issue 2, Page(s) 492–506

Abstract: Cerebral white matter hyperintensities on MRI are markers of cerebral small vessel disease, a major risk factor for dementia and stroke. Despite the successful identification of multiple genetic variants associated with this highly heritable condition, ... ...

Abstract	Cerebral white matter hyperintensities on MRI are markers of cerebral small vessel disease, a major risk factor for dementia and stroke. Despite the successful identification of multiple genetic variants associated with this highly heritable condition, its genetic architecture remains incompletely understood. More specifically, the role of DNA methylation has received little attention. We investigated the association between white matter hyperintensity burden and DNA methylation in blood at ∼450 000 cytosine-phosphate-guanine (CpG) sites in 9732 middle-aged to older adults from 14 community-based studies. Single CpG and region-based association analyses were carried out. Functional annotation and integrative cross-omics analyses were performed to identify novel genes underlying the relationship between DNA methylation and white matter hyperintensities. We identified 12 single CpG and 46 region-based DNA methylation associations with white matter hyperintensity burden. Our top discovery single CpG, cg24202936 (P = 7.6 × 10-8), was associated with F2 expression in blood (P = 6.4 × 10-5) and co-localized with FOLH1 expression in brain (posterior probability = 0.75). Our top differentially methylated regions were in PRMT1 and in CCDC144NL-AS1, which were also represented in single CpG associations (cg17417856 and cg06809326, respectively). Through Mendelian randomization analyses cg06809326 was putatively associated with white matter hyperintensity burden (P = 0.03) and expression of CCDC144NL-AS1 possibly mediated this association. Differentially methylated region analysis, joint epigenetic association analysis and multi-omics co-localization analysis consistently identified a role of DNA methylation near SH3PXD2A, a locus previously identified in genome-wide association studies of white matter hyperintensities. Gene set enrichment analyses revealed functions of the identified DNA methylation loci in the blood-brain barrier and in the immune response. Integrative cross-omics analysis identified 19 key regulatory genes in two networks related to extracellular matrix organization, and lipid and lipoprotein metabolism. A drug-repositioning analysis indicated antihyperlipidaemic agents, more specifically peroxisome proliferator-activated receptor-alpha, as possible target drugs for white matter hyperintensities. Our epigenome-wide association study and integrative cross-omics analyses implicate novel genes influencing white matter hyperintensity burden, which converged on pathways related to the immune response and to a compromised blood-brain barrier possibly due to disrupted cell-cell and cell-extracellular matrix interactions. The results also suggest that antihyperlipidaemic therapy may contribute to lowering risk for white matter hyperintensities possibly through protection against blood-brain barrier disruption.
MeSH term(s)	Middle Aged ; Humans ; Aged ; White Matter/diagnostic imaging ; Genome-Wide Association Study/methods ; Brain/diagnostic imaging ; DNA Methylation/genetics ; Magnetic Resonance Imaging ; Epigenesis, Genetic ; Protein-Arginine N-Methyltransferases ; Repressor Proteins
Chemical Substances	PRMT1 protein, human (EC 2.1.1.319) ; Protein-Arginine N-Methyltransferases (EC 2.1.1.319) ; Repressor Proteins
Language	English
Publishing date	2022-05-27
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, N.I.H., Intramural
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awac290
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Article ; Online: A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population

Levesque Sebastien / Morin Charles / Guay Simon-Pierre / Villeneuve Josee / Marquis Pascale / Yik Wing / Jiralerspong Sarn / Bouchard Luigi / Steinberg Steven / Hacia Joseph G / Dewar Ken / Braverman Nancy E

BMC Medical Genetics, Vol 13, Iss 1, p

2012 Volume 72

Abstract: Abstract Background Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this ... ...

Abstract	Abstract Background Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved. Methods We identified 5 ZS patients from SLSJ diagnosed by peroxisome dysfunction between 1990–2010 and sequenced all coding exons of known PEX genes in one patient using Next Generation Sequencing (NGS) for diagnostic confirmation. Results A homozygous mutation (c.802_815del, p.[Val207_Gln294del, Val76_Gln294del]) in PEX6 was identified and then shown in 4 other patients. Parental heterozygosity was confirmed in all. Incidence of ZS was estimated to 1 in 12,191 live births, with a carrier frequency of 1 in 55. In addition, we present data suggesting that this mutation abolishes a SF2/ASF splice enhancer binding site, resulting in the use of two alternative cryptic donor splice sites and predicted to encode an internally deleted in-frame protein. Conclusion We report increased incidence of ZS in French-Canadians of SLSJ caused by a PEX6 founder mutation. To our knowledge, this is the highest reported incidence of ZS worldwide. These findings have implications for carrier screening and support the utility of NGS for molecular confirmation of peroxisomal disorders.
Keywords	Zellweger syndrome ; Founder effect ; Peroxisome biogenesis disorders ; Next generation sequencing ; Internal medicine ; RC31-1245 ; Genetics ; QH426-470
Subject code	616
Language	English
Publishing date	2012-08-01T00:00:00Z
Publisher	BMC
Document type	Article ; Online
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Article ; Online: Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease.

Duperron, Marie-Gabrielle / Knol, Maria J / Le Grand, Quentin / Evans, Tavia E / Mishra, Aniket / Tsuchida, Ami / Roshchupkin, Gennady / Konuma, Takahiro / Trégouët, David-Alexandre / Romero, Jose Rafael / Frenzel, Stefan / Luciano, Michelle / Hofer, Edith / Bourgey, Mathieu / Dueker, Nicole D / Delgado, Pilar / Hilal, Saima / Tankard, Rick M / Dubost, Florian /

Shin, Jean / Saba, Yasaman / Armstrong, Nicola J / Bordes, Constance / Bastin, Mark E / Beiser, Alexa / Brodaty, Henry / Bülow, Robin / Carrera, Caty / Chen, Christopher / Cheng, Ching-Yu / Deary, Ian J / Gampawar, Piyush G / Himali, Jayandra J / Jiang, Jiyang / Kawaguchi, Takahisa / Li, Shuo / Macalli, Melissa / Marquis, Pascale / Morris, Zoe / Muñoz Maniega, Susana / Miyamoto, Susumu / Okawa, Masakazu / Paradise, Matthew / Parva, Pedram / Rundek, Tatjana / Sargurupremraj, Muralidharan / Schilling, Sabrina / Setoh, Kazuya / Soukarieh, Omar / Tabara, Yasuharu / Teumer, Alexander / Thalamuthu, Anbupalam / Trollor, Julian N / Valdés Hernández, Maria C / Vernooij, Meike W / Völker, Uwe / Wittfeld, Katharina / Wong, Tien Yin / Wright, Margaret J / Zhang, Junyi / Zhao, Wanting / Zhu, Yi-Cheng / Schmidt, Helena / Sachdev, Perminder S / Wen, Wei / Yoshida, Kazumichi / Joutel, Anne / Satizabal, Claudia L / Sacco, Ralph L / Bourque, Guillaume / Lathrop, Mark / Paus, Tomas / Fernandez-Cadenas, Israel / Yang, Qiong / Mazoyer, Bernard / Boutinaud, Philippe / Okada, Yukinori / Grabe, Hans J / Mather, Karen A / Schmidt, Reinhold / Joliot, Marc / Ikram, M Arfan / Matsuda, Fumihiko / Tzourio, Christophe / Wardlaw, Joanna M / Seshadri, Sudha / Adams, Hieab H H / Debette, Stéphanie

Nature medicine

2023 Volume 29, Issue 4, Page(s) 950–962

Abstract: Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population- ... ...

Abstract	Perivascular space (PVS) burden is an emerging, poorly understood, magnetic resonance imaging marker of cerebral small vessel disease, a leading cause of stroke and dementia. Genome-wide association studies in up to 40,095 participants (18 population-based cohorts, 66.3 ± 8.6 yr, 96.9% European ancestry) revealed 24 genome-wide significant PVS risk loci, mainly in the white matter. These were associated with white matter PVS already in young adults (N = 1,748; 22.1 ± 2.3 yr) and were enriched in early-onset leukodystrophy genes and genes expressed in fetal brain endothelial cells, suggesting early-life mechanisms. In total, 53% of white matter PVS risk loci showed nominally significant associations (27% after multiple-testing correction) in a Japanese population-based cohort (N = 2,862; 68.3 ± 5.3 yr). Mendelian randomization supported causal associations of high blood pressure with basal ganglia and hippocampal PVS, and of basal ganglia PVS and hippocampal PVS with stroke, accounting for blood pressure. Our findings provide insight into the biology of PVS and cerebral small vessel disease, pointing to pathways involving extracellular matrix, membrane transport and developmental processes, and the potential for genetically informed prioritization of drug targets.
MeSH term(s)	Humans ; Endothelial Cells/pathology ; Genome-Wide Association Study ; Cerebral Small Vessel Diseases/diagnostic imaging ; Cerebral Small Vessel Diseases/genetics ; Cerebral Small Vessel Diseases/complications ; Stroke ; Magnetic Resonance Imaging/methods ; Genomics
Language	English
Publishing date	2023-04-17
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1220066-9
ISSN	1546-170X ; 1078-8956
ISSN (online)	1546-170X
ISSN	1078-8956
DOI	10.1038/s41591-023-02268-w
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Article ; Online: A founder mutation in the PEX6 gene is responsible for increased incidence of Zellweger syndrome in a French Canadian population.

Levesque, Sebastien / Morin, Charles / Guay, Simon-Pierre / Villeneuve, Josee / Marquis, Pascale / Yik, Wing Yan / Jiralerspong, Sarn / Bouchard, Luigi / Steinberg, Steven / Hacia, Joseph G / Dewar, Ken / Braverman, Nancy E

BMC medical genetics

2012 Volume 13, Page(s) 72

Abstract: Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains ... ...

Abstract	Background: Zellweger syndrome (ZS) is a peroxisome biogenesis disorder due to mutations in any one of 13 PEX genes. Increased incidence of ZS has been suspected in French-Canadians of the Saguenay-Lac-St-Jean region (SLSJ) of Quebec, but this remains unsolved. Methods: We identified 5 ZS patients from SLSJ diagnosed by peroxisome dysfunction between 1990-2010 and sequenced all coding exons of known PEX genes in one patient using Next Generation Sequencing (NGS) for diagnostic confirmation. Results: A homozygous mutation (c.802_815del, p.[Val207_Gln294del, Val76_Gln294del]) in PEX6 was identified and then shown in 4 other patients. Parental heterozygosity was confirmed in all. Incidence of ZS was estimated to 1 in 12,191 live births, with a carrier frequency of 1 in 55. In addition, we present data suggesting that this mutation abolishes a SF2/ASF splice enhancer binding site, resulting in the use of two alternative cryptic donor splice sites and predicted to encode an internally deleted in-frame protein. Conclusion: We report increased incidence of ZS in French-Canadians of SLSJ caused by a PEX6 founder mutation. To our knowledge, this is the highest reported incidence of ZS worldwide. These findings have implications for carrier screening and support the utility of NGS for molecular confirmation of peroxisomal disorders.
MeSH term(s)	ATPases Associated with Diverse Cellular Activities ; Adenosine Triphosphatases/genetics ; Base Sequence ; European Continental Ancestry Group/genetics ; Female ; Founder Effect ; France/ethnology ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation ; Quebec/epidemiology ; Zellweger Syndrome/enzymology ; Zellweger Syndrome/epidemiology ; Zellweger Syndrome/genetics
Chemical Substances	Adenosine Triphosphatases (EC 3.6.1.-) ; ATPases Associated with Diverse Cellular Activities (EC 3.6.4.-) ; PEX6 protein, human (EC 3.6.4.-)
Language	English
Publishing date	2012-08-15
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ISSN	1471-2350
ISSN (online)	1471-2350
DOI	10.1186/1471-2350-13-72
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Article ; Online: Fourteen-genome comparison identifies DNA markers for severe-disease-associated strains of Clostridium difficile.

Forgetta, Vincenzo / Oughton, Matthew T / Marquis, Pascale / Brukner, Ivan / Blanchette, Ruth / Haub, Kevin / Magrini, Vince / Mardis, Elaine R / Gerding, Dale N / Loo, Vivian G / Miller, Mark A / Mulvey, Michael R / Rupnik, Maja / Dascal, Andre / Dewar, Ken

Journal of clinical microbiology

2011 Volume 49, Issue 6, Page(s) 2230–2238

Abstract: Clostridium difficile is a common cause of infectious diarrhea in hospitalized patients. A severe and increased incidence of C. difficile infection (CDI) is associated predominantly with the NAP1 strain; however, the existence of other severe-disease- ... ...

Abstract	Clostridium difficile is a common cause of infectious diarrhea in hospitalized patients. A severe and increased incidence of C. difficile infection (CDI) is associated predominantly with the NAP1 strain; however, the existence of other severe-disease-associated (SDA) strains and the extensive genetic diversity across C. difficile complicate reliable detection and diagnosis. Comparative genome analysis of 14 sequenced genomes, including those of a subset of NAP1 isolates, allowed the assessment of genetic diversity within and between strain types to identify DNA markers that are associated with severe disease. Comparative genome analysis of 14 isolates, including five publicly available strains, revealed that C. difficile has a core genome of 3.4 Mb, comprising ∼ 3,000 genes. Analysis of the core genome identified candidate DNA markers that were subsequently evaluated using a multistrain panel of 177 isolates, representing more than 50 pulsovars and 8 toxinotypes. A subset of 117 isolates from the panel had associated patient data that allowed assessment of an association between the DNA markers and severe CDI. We identified 20 candidate DNA markers for species-wide detection and 10,683 single nucleotide polymorphisms (SNPs) associated with the predominant SDA strain (NAP1). A species-wide detection candidate marker, the sspA gene, was found to be the same across 177 sequenced isolates and lacked significant similarity to those of other species. Candidate SNPs in genes CD1269 and CD1265 were found to associate more closely with disease severity than currently used diagnostic markers, as they were also present in the toxin A-negative and B-positive (A-B+) strain types. The genetic markers identified illustrate the potential of comparative genomics for the discovery of diagnostic DNA-based targets that are species specific or associated with multiple SDA strains.
MeSH term(s)	Adult ; Aged ; Bacterial Typing Techniques ; Clostridioides difficile/classification ; Clostridioides difficile/genetics ; Clostridioides difficile/pathogenicity ; Clostridium Infections/microbiology ; Clostridium Infections/pathology ; DNA, Bacterial/genetics ; Female ; Genetic Markers ; Genome, Bacterial ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Severity of Illness Index ; Virulence
Chemical Substances	DNA, Bacterial ; Genetic Markers
Language	English
Publishing date	2011-04-20
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	390499-4
ISSN	1098-660X ; 0095-1137
ISSN (online)	1098-660X
ISSN	0095-1137
DOI	10.1128/JCM.00391-11
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