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Article

Involvement of the modifier gene of a human Mendelian disorder in a negative selection process.

PloS one - 30 Oct 2009

Jéru Isabelle, Hayrapetyan Hasmik, Duquesnoy Philippe, Cochet Emmanuelle, Serre Jean-Louis, Feingold Josué, Grateau Gilles, Sarkisian Tamara, Jeanpierre Marc, Amselem Serge

Abstract excerpt

BACKGROUND: Identification of modifier genes and characterization of their effects represent major challenges in human genetics. SAA1 is one of the few modifiers identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV. Indeed, the SAA1 alpha homozygous genotype and the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 19888326
DOI: 10.1371/journal.pone.0007676
PMCID: PMC2765618

Genes

SAA1
MEFV

Variants

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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