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Article

Complement factor H variants I890 and L1007 while commonly associated with atypical hemolytic uremic syndrome are polymorphisms with no functional significance.

Kidney international - 1 Jan 2012

Tortajada Agustín, Pinto Sheila, Martínez-Ara Jorge, López-Trascasa Margarita, Sánchez-Corral Pilar, de Córdoba Santiago Rodríguez

Abstract excerpt

Mutations and polymorphisms in the gene-encoding factor H (CFH) are associated with atypical hemolytic uremic syndrome, dense deposit disease, and age-related macular degeneration. Many of these CFH genetic variations disrupt the regulatory role of factor H, supporting the concept that dysregulation of complement is a unifying pathogenic feature of these disorders. Evidence of a causal relationship with the...

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Source

Identifiers

PMID: 21881555
DOI: 10.1038/ki.2011.291

Genes

CFH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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