rs10063570 - COL23A1

Magnitude 2.0 · 1 study on file

Reported associations

• Antiphospholipid antibodies in a large population-based cohort: genome-wide associations and effects on monocyte gene expression. - Thrombosis and haemostasis (2018) · Müller-Calleja N, Rossmann H, Müller C, Wild P, Blankenberg S, Pfeiffer N, Binder H, Beutel ME, Manukyan D, Zeller T, Lackner KJ · PubMed 27098658

  The antiphospholipid syndrome (APS) is characterised by venous and/or arterial thrombosis and pregnancy morbidity in women combined with the persistent presence of antiphospholipid antibodies (aPL). We aimed to identify genetic factors associated with the presence of aPL in a population based cohort. Furthermore, we wanted to clarify if the presence of aPL affects gene expression in circulating monocytes. Titres of IgG and IgM against cardiolipin, β2glycoprotein 1 (anti-β2GPI), and IgG against domain 1 of β2GPI (anti-domain 1) were determined in approx. 5,000 individuals from the Gutenberg Health Study (GHS) a population based cohort of German descent. Genotyping was conducted on Affymetrix Genome-Wide Human SNP 6.0 arrays. Monocyte gene expression was determined in a subgroup of 1,279

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