TY - JOUR AU - Bendapudi, Pavan K. AB - Key PointsQuestionWhat is the thrombosis risk conferred by deficiency in protein S? FindingsIn this analysis of more than 600 000 individuals, we found that deleterious missense and complete loss-of-function variants in PROS1 are significantly associated with venous thromboembolism (odds ratios, 1.98 and 14.01, respectively). Complete heterozygous loss of function in PROS1 occurs in approximately 1 in 10 000 people. Low plasma protein S is associated with venous thromboembolism and peripheral artery disease regardless of whether a coding variant in PROS1 is present. MeaningGenetically defined protein S deficiency is rarer and more closely linked to venous thrombosis than previously appreciated in cross-sectional studies; low circulating protein S levels are associated with 2 thrombosis phenotypes. TI - Population-Scale Studies of Protein S Abnormalities and Thrombosis JF - JAMA DO - 10.1001/jama.2025.0155 DA - 2025-03-03 UR - https://www.deepdyve.com/lp/american-medical-association/population-scale-studies-of-protein-s-abnormalities-and-thrombosis-ANgU2vsK59 SP - 1423 EP - 1432 VL - 333 IS - 16 DP - DeepDyve ER -