Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process
Isabelle Jéru; Hasmik Hayrapetyan; Philippe Duquesnoy; Emmanuelle Cochet; Jean‐Louis Serre; Josué Feingold; Gilles Grateau; Tamara Sarkisian; Marc Jeanpierre, and Serge Amselem · 2009
Catalogue summary
Familial Mediterranean fever patients in Armenia and Karabakh show sharply different renal amyloidosis rates and opposite SAA1 genotype deviations despite similar MEFV risk frequencies, supporting negative selection in the Karabakh group.
Why this matters
The neighboring Armenian populations provide a rare natural comparison for understanding how a modifier gene shapes severe Mendelian disease outcomes.
Citation
Isabelle Jéru; Hasmik Hayrapetyan; Philippe Duquesnoy; Emmanuelle Cochet; Jean‐Louis Serre; Josué Feingold; Gilles Grateau; Tamara Sarkisian; Marc Jeanpierre, and Serge Amselem 2009. Involvement of the Modifier Gene of a Human Mendelian Disorder in a Negative Selection Process. PLoS ONE. https://doi.org/10.1371/journal.pone.0007676
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