rs10415749 - CNN1
Magnitude 4.5 · 1 study on file
Reported associations
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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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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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antiphospholipid syndrome risk and evaluation Moderate
Genetic association with antiphospholipid antibodies warrants clinical assessment for thrombotic and obstetric complications.
Mention CNN1 variant to physician; consider formal APS evaluation if clinical features present.
Screening
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antiphospholipid antibody testing Moderate
CNN1 variant associated with elevated antiphospholipid antibody presence, an autoimmune marker linked to thrombotic risk.
Discuss baseline APA screening with physician if family history of thrombosis, miscarriage, or autoimmune disease.