A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

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

Tyck till om SwePub Sök här!

Sökning: WFRF:(Kozyrev Sergey V.) > (2015-2019) > Svenungsson Elisabet > A rare regulatory v...

1 av 1
Föregående post
Nästa post
Till träfflistan

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Farias, Fabiana H. G. (författare): Sveriges lantbruksuniversitet,Swedish University of Agricultural Sciences,Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, 63110, USA,Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Box 7054, SE-750 07, Uppsala, Sweden,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO, USA,Institutionen för kliniska vetenskaper (KV)

Dahlqvist, Johanna, 1979- (författare): Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

Kozyrev, Sergey V. (författare): Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

visa fler...

Leonard, Dag, 1975- (författare): Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Wilbe, Maria (författare): Sveriges lantbruksuniversitet,Uppsala University,Swedish University of Agricultural Sciences,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Uppsala, Sweden,Institutionen för husdjursgenetik (HGEN)

Abramov, Sergei (författare): Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, 420008, Russia,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Institute of Fundamental Medicine and Biology, Kazan Federal University, Kazan, Russia

Alexsson, Andrei (författare): Lund University,Lunds universitet,Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Department of Clinical Sciences Lund, Lund University, Skane University Hospital, SE-221 00, Lund, Sweden,Lund SLE Research Group,Forskargrupper vid Lunds universitet,Lund University Research Groups,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Pielberg, Gerli (författare): Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden

Hansson-Hamlin, Helene (författare): Department of Clinical Sciences, Swedish University of Agricultural Sciences (SLU), Box 7054, SE-750 07, Uppsala, Sweden

Andersson, Göran (författare): Sveriges lantbruksuniversitet,Swedish University of Agricultural Sciences,Department of Animal Breeding and Genetics, Swedish University of Agricultural Sciences (SLU), Box 7023, Uppsala, Sweden,Institutionen för husdjursgenetik (HGEN)

Tandre, Karolina (författare): Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Bengtsson, Anders A (författare): Department of Clinical Sciences Lund, Lund University, Skane University Hospital, SE-221 00, Lund, Sweden

Sjöwall, Christopher, 1975- (författare): Linköpings universitet,Linköping University,Avdelningen för neuro- och inflammationsvetenskap,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland

Svenungsson, Elisabet (författare): Karolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

Gunnarsson, Iva (författare): Karolinska Institutet,Karolinska Institute,Rheumatology Unit, Department of Medicine, Solna, Karolinska Institutet, Karolinska University Hospital, Stockholm, Sweden

Rantapää-Dahlqvist, Solbritt (författare): Umeå University,Umeå universitet,Reumatologi,Department of Public Health and Clinical Medicine/Rheumatology, Umeå University, SE-901 85, Umeå, Sweden

Syvänen, Ann-Christine, 1950- (författare): Uppsala University,Uppsala universitet,Molekylär medicin,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden; Department of Medical Sciences, Molecular Medicine and Science for Life Laboratory, Uppsala University, Uppsala, Sweden

Sandling, Johanna K. (författare): Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Eloranta, Maija-Leena (författare): Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Rönnblom, Lars (författare): Uppsala University,Uppsala universitet,Reumatologi,Science for Life Laboratory, SciLifeLab,Science for Life Laboratory, Department of Medical Sciences, Section of Rheumatology, Uppsala University, Uppsala, Sweden

Lindblad-Toh, Kerstin (författare): Uppsala University,Uppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Institute, Cambridge, 7 Cambridge Center, Cambridge, MA, 02142, USA,Science for Life Laboratory, Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala, Sweden; Broad Institute, Cambridge, 7 Cambridge Center, Cambridge, MA, USA

visa färre...

(creator_code:org_t)

2018-11-20
2019
Engelska.
Ingår i: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 27, s. 432-441

Relaterad länk:: https://doi.org/10.1...; visa fler...; https://uu.diva-port... (primary) (Raw object); https://www.nature.c...; https://umu.diva-por... (primary) (Raw object); http://dx.doi.org/10... (free); https://liu.diva-por... (primary) (Raw object); https://urn.kb.se/re...; https://doi.org/10.1...; https://urn.kb.se/re...; https://lup.lub.lu.s...; https://urn.kb.se/re...; http://kipublication...; https://res.slu.se/i...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

Stäng

Systemic lupus erythematosus (SLE) is an autoimmune disorder with heterogeneous clinical presentation and complex etiology involving the interplay between genetic, epigenetic, environmental and hormonal factors. Many common SNPs identified by genome wide-association studies (GWAS) explain only a small part of the disease heritability suggesting the contribution from rare genetic variants, undetectable in GWAS, and complex epistatic interactions. Using targeted re-sequencing of coding and conserved regulatory regions within and around 215 candidate genes selected on the basis of their known role in autoimmunity and genes associated with canine immune-mediated diseases, we identified a rare regulatory variant rs200395694:G > T located in intron 4 of the MEF2D gene encoding the myocyte-specific enhancer factor 2D transcription factor and associated with SLE in Swedish cohorts (504 SLE patients and 839 healthy controls, p = 0.014, CI = 1.1-10). Fisher's exact test revealed an association between the genetic variant and a triad of disease manifestations including Raynaud, anti-U1-ribonucleoprotein (anti-RNP), and anti-Smith (anti-Sm) antibodies (p = 0.00037) among the patients. The DNA-binding activity of the allele was further studied by EMSA, reporter assays, and minigenes. The region has properties of an active cell-specific enhancer, differentially affected by the alleles of rs200395694:G > T. In addition, the risk allele exerts an inhibitory effect on the splicing of the alternative tissue-specific isoform, and thus may modify the target gene set regulated by this isoform. These findings emphasize the potential of dissecting traits of complex diseases and correlating them with rare risk alleles with strong biological effects.

Hitta via bibliotek

European Journal of Human Genetics (Sök värdpublikationen i LIBRIS)

Till lärosätets databas

1 av 1
Föregående post
Nästa post
Till träfflistan

Hitta mer i SwePub

Om ämnet

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Medicinska och f ...; och Medicinsk geneti ...

MEDICIN OCH HÄLSOVETENSKAP: MEDICIN OCH HÄLS ...; och Klinisk medicin; och Reumatologi och ...

Artiklar i publikationen: European Journal ...

Av lärosätet: Uppsala universitet; Umeå universitet; Lunds universitet; Linköpings universitet; Karolinska Institutet; Sveriges Lantbruksuniversitet

Sök utanför SwePub

Sök vidare i:: 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

A rare regulatory variant in the MEF2D gene affects gene regulation and splicing and is associated with a SLE sub-phenotype in Swedish cohorts

Ämnesord

Nyckelord

Publikations- och innehållstyp

Hitta via bibliotek

Till lärosätets databas

Hitta mer i SwePub

Sök utanför SwePub