A Common Missense Variant, W335S, in β2-Glycoprotein I (APOH) is Associated with Increased Autoantibody Levels but Reduced Venous Thromboembolism Risk
This study identifies the W335S missense variant in the APOH gene as a causal factor that paradoxically increases anti-β2-glycoprotein I autoantibody levels while simultaneously reducing venous thromboembolism risk by disrupting phospholipid binding, thereby uncoupling autoimmunity from thrombosis and offering a potential biomarker for thrombotic risk stratification.