Study Reveals Genetic Basis for Relapsing Polychondritis
Relapsing polychondritis (RP) is characterized by painful inflammation of the cartilage and other connective tissues, affecting many organs, including the ears, nose, larynx, tracheobronchial tree, and cardiovascular system. The pathogenesis remains unknown, but coinheritance of multigene mutated may contribute to RP susceptibility, according to a Chinese study presented at the 2018 European League Against Rheumatism (EULAR) Congress held in Amsterdam from June 13 to June 16.
The study used family-based whole-exome sequencing to evaluate the genes of a 32-year-old Chinese woman with RP whose mother also has the condition. Genomic DNA was extracted from the peripheral blood monocyte cells of 6 individuals and then whole-exome sequencing (WES) was performed to identify gene allele mutations. Sanger sequencing validated the WES results, including through confirmation of identified gene variants in a larger pool of RP patients (N=12).
A total of 38 gene mutations were confirmed by WES among RP patients, 10 of which were validated by Sanger sequencing. The study investigators suggest that these 10 candidate genes may be potential targets for in-depth functional studies.
Access the full abstract here.
Lin Z, Gui L, Qi J, et al. Family-based whole-exome sequencing reveals the genetic basis of relapsing polychondritis. Presented at: European League Against Rheumatism (EULAR) Congress 2018; June 13-16, 2018; Amsterdam, The Netherlands. Abstract AB0022.