Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.

doi:10.1038/s41590-020-0705-6

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Article

Ancient familial Mediterranean fever mutations in human pyrin and resistance to Yersinia pestis.

Nature immunology - 1 Aug 2020

Park Yong Hwan, Remmers Elaine F, Lee Wonyong, Ombrello Amanda K, Chung Lawton K, Shilei Zhao, Stone Deborah L, Ivanov Maya I, Loeven Nicole A, Barron Karyl S, Hoffmann Patrycja, Nehrebecky Michele, Akkaya-Ulum Yeliz Z, Sag Erdal, Balci-Peynircioglu Banu, Aksentijevich Ivona, Gül Ahmet, Rotimi Charles N, Chen Hua, Bliska James B, Ozen Seza, Kastner Daniel L, Shriner Daniel, Chae Jae Jin

Abstract excerpt

Familial Mediterranean fever (FMF) is an autoinflammatory disease caused by homozygous or compound heterozygous gain-of-function mutations in MEFV, which encodes pyrin, an inflammasome protein. Heterozygous carrier frequencies for multiple MEFV mutations are high in several Mediterranean populations, suggesting that they confer selective advantage. Among 2,313 Turkish people, we found extended haplotype...

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PMID: 32601469
DOI: 10.1038/s41590-020-0705-6
PMCID: PMC7381377

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