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The HLA locus conta...
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Meisgen, Sabrina
(författare)
The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence
- Artikel/kapitelEngelska2014
Förlag, utgivningsår, omfång ...
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2014-01-20
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Wiley,2014
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printrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-219521
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-219521URI
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https://doi.org/10.1111/joim.12179DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:129224725URI
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Språk:engelska
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Sammanfattning på:engelska
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Ämneskategori:ref swepub-contenttype
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Ämneskategori:art swepub-publicationtype
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OBJECTIVE: The main aim of this study was to identify foetal susceptibility genes on chromosome six for Ro/SSA autoantibody-mediated congenital heart block.SUBJECTS AND DESIGN: Single nucleotide polymorphism (SNP) genotyping of individuals in the Swedish Congenital Heart Block (CHB) study population was performed. Low-resolution HLA-A, -Cw and -DRB1 allele typing was carried out in 86 families comprising 339 individuals (86 Ro/SSA autoantibody-positive mothers, 71 fathers, 87 CHB index cases, and 95 unaffected siblings).RESULTS: A case-control comparison between index cases and population-based out-of-study controls (n=1710) revealed association of CHB with 15 SNPs in the 6p21.3 MHC locus at a chromosome-wide significance of p<2.59×10(-6) (OR 2.21-3.12). In a family-based analysis of association of SNP markers as well as distinct MHC class I and II alleles with CHB, HLA-DRB1*04 and HLA-Cw*05 variants were significantly more frequently transmitted to affected individuals (p<0.03 and p<0.05, respectively), while HLA-DRB1*13 and HLA-Cw*06 variants were significantly less often transmitted to affected children (p<0.04 and p<0.03). We further observed marked association of increased paternal (but not maternal) HLA-DRB1*04 transmission to affected offspring (p<0.02).CONCLUSIONS: HLA-DRB1*04 and HLA-Cw*05 were identified as novel foetal HLA allele variants that confer susceptibility to CHB in response to Ro/SSA autoantibody exposure, while DRB1*13 and Cw*06 emerged as protective alleles. Additionally, we demonstrated a paternal contribution to foetal susceptibility to CHB for the first time.
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Ostberg, Therese
(författare)
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Salomonsson, StinaKarolinska Institutet
(författare)
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Ding, Bo
(författare)
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Eliasson, HåkanKarolinska Institutet
(författare)
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Mälarstig, AndersKarolinska Institutet
(författare)
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Alfredsson, LarsKarolinska Institutet
(författare)
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Klareskog, LarsKarolinska Institutet
(författare)
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Hamsten, AndersKarolinska Institutet
(författare)
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Olsson, TomasKarolinska Institutet
(författare)
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Axelsson, TomasUppsala universitet,Molekylär medicin(Swepub:uu)toaxe957
(författare)
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Gadler, FredrikKarolinska Institutet
(författare)
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Jonzon, AndersUppsala universitet,Pediatrik(Swepub:uu)andersjz
(författare)
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Sonesson, Sven-Erik
(författare)
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Kockum, IngridKarolinska Institutet
(författare)
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Wahren-Herlenius, MarieKarolinska Institutet
(författare)
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Karolinska InstitutetMolekylär medicin
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Journal of Internal Medicine: Wiley275:6, s. 640-6510954-68201365-2796
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Till lärosätets databas
- Av författaren/redakt...
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Meisgen, Sabrina
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Ostberg, Therese
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Salomonsson, Sti ...
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Ding, Bo
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Eliasson, Håkan
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Mälarstig, Ander ...
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visa fler...
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Alfredsson, Lars
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Klareskog, Lars
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Hamsten, Anders
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Olsson, Tomas
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Axelsson, Tomas
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Gadler, Fredrik
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Jonzon, Anders
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Sonesson, Sven-E ...
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Kockum, Ingrid
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Wahren-Herlenius ...
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visa färre...
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Journal of Inter ...
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Uppsala universitet
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Karolinska Institutet