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Article

Population-scale analysis reveals inherited C1-inhibitor deficiency is a polyphenotypic thrombotic disorder.

Blood advances - 10 Feb 2026

Rodriguez Espada Alfonso, Haj Amelia K, Jurgens Sean J, Eswaran Harish, Sundler Björkman Linda, Ryu Justine, Chaudhry Sharjeel, Koyama Satoshi, Wang Xin, Choi Seung Hoan, Sanna-Cherchi Simone, Banerji Aleena, Rämö Joel T, Ellinor Patrick T, Grover Steven P, Bendapudi Pavan K

Abstract excerpt

ABSTRACT: Deficiency in C1 inhibitor (C1INH/SERPING1) is canonically associated with hereditary angioedema (HAE-C1INH) but not thrombosis. To determine the thrombosis risk conferred by the loss of C1INH in the general population, we studied genetically-defined C1INH deficiency across 635 823 participants. Functionally deleterious germ line coding variation in the SERPING1 gene was rare (∼1:10 000), indicating...

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Identifiers

PMID: 41026970
DOI: 10.1182/bloodadvances.2025017220
PMCID: PMC12905601

Genes

SERPING1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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