Article
Ultra-rare genetic variation in relapsing polychondritis: a whole-exome sequencing study.
Annals of the rheumatic diseases - 11 Jan 2024
Luo Yiming, Ferrada Marcela A, Sikora Keith A, Rankin Cameron, Alessi Hugh D, Kastner Daniel L, Deng Zuoming, Zhang Mengqi, Merkel Peter A, Kraus Virginia B, Allen Andrew S, Grayson Peter C
Abstract excerpt
OBJECTIVE: Relapsing polychondritis (RP) is a systemic inflammatory disease of unknown aetiology. The objective of this study was to examine the contribution of rare genetic variations to RP. METHODS: We performed a case-control exome-wide rare variant association analysis that included 66 unrelated European American cases with RP and 2923 healthy controls (HC). Gene-level collapsing analysis was performed using...
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