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

• Published in: PloS one Vol. 4; no. 10; p. e7676
• Main Authors: Jéru, Isabelle, Hayrapetyan, Hasmik, Duquesnoy, Philippe, Cochet, Emmanuelle, Serre, Jean-Louis, Feingold, Josué, Grateau, Gilles, Sarkisian, Tamara, Jeanpierre, Marc, Amselem, Serge
• Format: Journal Article
• Language: English
• Published: United States Public Library of Science 30.10.2009; Public Library of Science (PLoS)
• Subjects: Algorithms; Amyloidosis; Amyloidosis - genetics; Armenia; Arthritis; Chi-square test; Congenital diseases; DNA Mutational Analysis; Equilibrium; Familial Mediterranean fever; Familial Mediterranean Fever - genetics; Fever; Genes; Genetic aspects; Genetics; Genetics and Genomics/Genetics of Disease; Genetics and Genomics/Medical Genetics; Genetics and Genomics/Population Genetics; Genotype; Homozygote; Homozygotes; Humans; Immunology; Inflammation; Kidneys; Life Sciences; Loci; Medical research; Models, Biological; Models, Genetic; Models, Statistical; Mutation; Negative selection; Pathology/Molecular Pathology; Patients; Population genetics; Population studies; Primary care; Proteins; Pyrin protein; Risk analysis; Risk Factors; Selection, Genetic; Serum Amyloid A Protein - genetics; Studies; Armenia; France; Armenia; Armenian people; Variant genotypes; Monte Carlo method; Chi square tests; Homozygosity

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 autoinf...