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Allele frequency sp...
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Mathioudaki, Argyri,Ph.D student,1986-Uppsala universitet,Science for Life Laboratory, SciLifeLab,Institutionen för medicinska vetenskaper,Uppsala Univ, Sweden
(författare)
Allele frequency spectrum of known ankylosing spondylitis associated variants in a Swedish population
- Artikel/kapitelEngelska2022
Förlag, utgivningsår, omfång ...
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2021-06-25
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Informa UK Limited,2022
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electronicrdacarrier
Nummerbeteckningar
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LIBRIS-ID:oai:DiVA.org:uu-468590
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-468590URI
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https://doi.org/10.1080/03009742.2021.1916202DOI
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https://urn.kb.se/resolve?urn=urn:nbn:se:liu:diva-180093URI
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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
Anmärkningar
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Funding Agencies|Swedish Research Council, FORMASSwedish Research CouncilSwedish Research Council Formas [Dnr 2012-1531]; Wallenberg Scholar award
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Objective: The genetic predisposition to ankylosing spondylitis (AS) has been most widely studied in cohorts with European ancestry. However, within Europe, disease prevalence is higher in Sweden. Given this, we aimed to characterize known AS susceptibility variants in a homogeneous Swedish data set, assessing reproducibility and direction of effect. Method: The power to detect association within an existing Swedish targeted sequencing study (381 controls; 310 AS cases) was examined, and a set of published associations (n = 151) was intersected with available genotypes. Association to disease was calculated using logistic regression accounting for population structure, and HLA-B27 status was determined with direct polymerase chain reaction genotyping. Results: The cases were found to be 92.3% HLA-B27 positive, with the data set showing >= 80% predictive power to replicate associations, with odds ratios >= 1.6 over a range of allele frequencies (0.1-0.7). Thirty-four markers, representing 23 gene loci, were available for investigation. The replicated variants tagged MICA and IL23R loci (p < 1.47 x 10(-3)), with variable direction of effect noted for gene loci IL1R1 and MST1. Conclusion: The Swedish data set successfully replicated both major histocompatibility complex (MHC) and non-MHC loci, and revealed a different replication pattern compared to discovery data sets. This was possibly due to population demographics, including HLA-B27 frequency and measured comorbidities.
Ämnesord och genrebeteckningar
Biuppslag (personer, institutioner, konferenser, titlar ...)
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Nordin, JessikaUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)jesno731
(författare)
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Kastbom, AlfLinköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland(Swepub:liu)alfka05
(författare)
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Söderkvist, PeterLinköpings universitet,Avdelningen för cellbiologi,Medicinska fakulteten(Swepub:liu)petso43
(författare)
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Eriksson, PerLinköpings universitet,Avdelningen för inflammation och infektion,Medicinska fakulteten,Region Östergötland, Reumatologiska kliniken i Östergötland(Swepub:liu)perer22
(författare)
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Cedergren, JanLinköpings universitet,Medicinska fakulteten,Institutionen för biomedicinska och kliniska vetenskaper,Region Östergötland, Reumatologiska kliniken i Östergötland(Swepub:liu)jance71
(författare)
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Lindblad-Toh, KerstinUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Broad Inst MIT & Harvard, Cambridge, MA USA.,Uppsala Univ, Sweden; Broad Inst MIT & Harvard, MA USA(Swepub:uu)kerli865
(författare)
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Meadows, JenniferUppsala universitet,Institutionen för medicinsk biokemi och mikrobiologi,Science for Life Laboratory, SciLifeLab,Uppsala Univ, Sweden(Swepub:uu)jenme818
(författare)
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Uppsala universitetScience for Life Laboratory, SciLifeLab
(creator_code:org_t)
Sammanhörande titlar
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Ingår i:Scandinavian Journal of Rheumatology: Informa UK Limited51:1, s. 21-240300-97421502-7732
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