Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

↓ Direkt till sidans innehåll
↓ Direkt till sidans sekundära innehåll (sidomenyn)

Tyck till om SwePub Sök här!

Search: WFRF:(Shiels Paul G) > Voskuyl Alexandre E. > Identification of N...

1 of 1
Previous record
Next record
To hitlist

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Gorlova, Olga (author)

Martin, Jose-Ezequiel (author)

Rueda, Blanca (author)

Koeleman, Bobby P. C. (author)

Ying, Jun (author)

Teruel, Maria (author)

Diaz-Gallo, Lina-Marcela (author)

Broen, Jasper C. (author)

Vonk, Madelon C. (author)

Simeon, Carmen P. (author)

Alizadeh, Behrooz Z. (author)

Coenen, Marieke J. H. (author)

Voskuyl, Alexandre E. (author)

Schuerwegh, Annemie J. (author)

van Riel, Piet L. C. M. (author)

Vanthuyne, Marie (author)

van't Slot, Ruben (author)

Italiaander, Annet (author)

Ophoff, Roel A. (author)

Hunzelmann, Nicolas (author)

Fonollosa, Vicente (author)

Ortego-Centeno, Norberto (author)

Gonzalez-Gay, Miguel A. (author)

Garcia-Hernandez, Francisco J. (author)

Gonzalez-Escribano, Maria F. (author)

Airo, Paolo (author)

van Laar, Jacob (author)

Worthington, Jane (author)

Hesselstrand, Roger (author): Lund University,Lunds universitet,Reumatologi och molekylär skelettbiologi,Sektion III,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Rheumatology,Section III,Department of Clinical Sciences, Lund,Faculty of Medicine

Smith, Vanessa (author)

de Keyser, Filip (author)

Houssiau, Fredric (author)

Chee, Meng May (author)

Madhok, Rajan (author)

Shiels, Paul G. (author)

Westhovens, Rene (author)

Kreuter, Alexander (author)

de Baere, Elfride (author)

Witte, Torsten (author)

Padyukov, Leonid (author): Karolinska Institutet

Nordin, Annika (author): Karolinska Institutet

Scorza, Raffaella (author)

Lunardi, Claudio (author)

Lie, Benedicte A. (author)

Hoffmann-Vold, Anna-Maria (author)

Palm, Oyvind (author)

Garcia de la Pena, Paloma (author)

Carreira, Patricia (author)

Varga, John (author)

Hinchcliff, Monique (author)

Lee, Annette T. (author)

Gourh, Pravitt (author)

Amos, Christopher I. (author)

Wigley, Frederick M. (author)

Hummers, Laura K. (author)

Hummers, J. (author)

Nelson, J. Lee (author)

Riemekasten, Gabriella (author)

Herrick, Ariane (author)

Beretta, Lorenzo (author)

Fonseca, Carmen (author)

Denton, Christopher P. (author)

Gregersen, Peter K. (author)

Agarwal, Sandeep (author)

Assassi, Shervin (author)

Tan, Filemon K. (author)

Arnett, Frank C. (author)

Radstake, Timothy R. D. J. (author)

Mayes, Maureen D. (author)

Martin, Javier (author)

show less...

(creator_code:org_t)

2011-07-14
2011
English.
In: PLoS Genetics. - : Public Library of Science (PLoS). - 1553-7404. ; 7:7

Related links:: https://portal.resea... (primary) (free); show more...; http://dx.doi.org/10... (free); https://journals.plo...; https://lup.lub.lu.s...; https://doi.org/10.1...; http://kipublication...; show less...

Journal article (peer-reviewed)

Abstract Subject headings

The aim of this study was to determine, through a genome-wide association study (GWAS), the genetic components contributing to different clinical sub-phenotypes of systemic sclerosis (SSc). We considered limited (IcSSc) and diffuse (dcSSc) cutaneous involvement, and the relationships with presence of the SSc-specific auto-antibodies, anti-centromere (ACA), and anti-topoisomerase I (ATA). Four GWAS cohorts, comprising 2,296 SSc patients and 5,171 healthy controls, were meta-analyzed looking for associations in the selected subgroups. Eighteen polymorphisms were further tested in nine independent cohorts comprising an additional 3,175 SSc patients and 4,971 controls. Conditional analysis for associated SNPs in the HLA region was performed to explore their independent association in antibody subgroups. Overall analysis showed that non-HLA polymorphism rs11642873 in IRF8 gene to be associated at GWAS level with lcSSc (P = 2.32x10(-12), OR = 0.75). Also, rs12540874 in GRB10 gene (P = 1.27 x 10(-6), OR = 1.15) and rs11047102 in SOX5 gene (P = 1.39x10(-7), OR = 1.36) showed a suggestive association with lcSSc and ACA subgroups respectively. In the HLA region, we observed highly associated allelic combinations in the HLA-DQB1 locus with ACA (P = 1.79x10(-61), OR = 2.48), in the HLA-DPA1/B1 loci with ATA (P = 4.57x10(-76), OR = 8.84), and in NOTCH4 with ACA P = 8.84x10(-21), OR = 0.55) and ATA (P = 1.14x10(-8), OR = 0.54). We have identified three new non-HLA genes (IRF8, GRB10, and SOX5) associated with SSc clinical and autoantibody subgroups. Within the HLA region, HLA-DQB1, HLA-DPA1/B1, and NOTCH4 associations with SSc are likely confined to specific auto-antibodies. These data emphasize the differential genetic components of subphenotypes of SSc.

Find in a library

PLoS Genetics (Search for host publication in LIBRIS)

To the university's database

1 of 1
Previous record
Next record
To hitlist

Find more in SwePub

By the author/editor: Gorlova, Olga; Martin, Jose-Eze ...; Rueda, Blanca; Koeleman, Bobby ...; Ying, Jun; Teruel, Maria; show more...; Diaz-Gallo, Lina ...; Broen, Jasper C.; Vonk, Madelon C.; Simeon, Carmen P ...; Alizadeh, Behroo ...; Coenen, Marieke ...; Voskuyl, Alexand ...; Schuerwegh, Anne ...; van Riel, Piet L ...; Vanthuyne, Marie; van't Slot, Rube ...; Italiaander, Ann ...; Ophoff, Roel A.; Hunzelmann, Nico ...; Fonollosa, Vicen ...; Ortego-Centeno, ...; Gonzalez-Gay, Mi ...; Garcia-Hernandez ...; Gonzalez-Escriba ...; Airo, Paolo; van Laar, Jacob; Worthington, Jan ...; Hesselstrand, Ro ...; Smith, Vanessa; de Keyser, Filip; Houssiau, Fredri ...; Chee, Meng May; Madhok, Rajan; Shiels, Paul G.; Westhovens, Rene; Kreuter, Alexand ...; de Baere, Elfrid ...; Witte, Torsten; Padyukov, Leonid; Nordin, Annika; Scorza, Raffaell ...; Lunardi, Claudio; Lie, Benedicte A ...; Hoffmann-Vold, A ...; Palm, Oyvind; Garcia de la Pen ...; Carreira, Patric ...; Varga, John; Hinchcliff, Moni ...; Lee, Annette T.; Gourh, Pravitt; Amos, Christophe ...; Wigley, Frederic ...; Hummers, Laura K ...; Hummers, J.; Nelson, J. Lee; Riemekasten, Gab ...; Herrick, Ariane; Beretta, Lorenzo; Fonseca, Carmen; Denton, Christop ...; Gregersen, Peter ...; Agarwal, Sandeep; Assassi, Shervin; Tan, Filemon K.; Arnett, Frank C.; Radstake, Timoth ...; Mayes, Maureen D ...; Martin, Javier; show less...

About the subject

MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Rheumatology and ...

Articles in the publication: PLoS Genetics

By the university: Lund University; Karolinska Institutet

Search outside SwePub

Extend your search to:: Google; Google Book Search; Google Scholar

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

LIBRIS.kb.se

Identification of Novel Genetic Markers Associated with Clinical Phenotypes of Systemic Sclerosis through a Genome-Wide Association Strategy

Subject headings

Publication and Content Type

Find in a library

To the university's database

Find more in SwePub

Search outside SwePub