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The HLA locus conta...
The HLA locus contains novel foetal susceptibility alleles for congenital heart block with significant paternal influence
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Meisgen, Sabrina (författare)
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Ostberg, Therese (författare)
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- Salomonsson, Stina (författare)
- Karolinska Institutet
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Ding, Bo (författare)
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- Eliasson, Håkan (författare)
- Karolinska Institutet
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- Mälarstig, Anders (författare)
- Karolinska Institutet
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- Alfredsson, Lars (författare)
- Karolinska Institutet
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- Klareskog, Lars (författare)
- Karolinska Institutet
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- Hamsten, Anders (författare)
- Karolinska Institutet
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- Olsson, Tomas (författare)
- Karolinska Institutet
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- Axelsson, Tomas (författare)
- Uppsala universitet,Molekylär medicin
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- Gadler, Fredrik (författare)
- Karolinska Institutet
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- Jonzon, Anders (författare)
- Uppsala universitet,Pediatrik
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Sonesson, Sven-Erik (författare)
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- Kockum, Ingrid (författare)
- Karolinska Institutet
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- Wahren-Herlenius, Marie (författare)
- Karolinska Institutet
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(creator_code:org_t)
- 2014-01-20
- 2014
- Engelska.
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Ingår i: Journal of Internal Medicine. - : Wiley. - 0954-6820 .- 1365-2796. ; 275:6, s. 640-651
- Relaterad länk:
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https://onlinelibrar...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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http://kipublication...
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Abstract
Ämnesord
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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.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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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...
- Artiklar i publikationen
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Journal of Inter ...
- Av lärosätet
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Uppsala universitet
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Karolinska Institutet