Unraveling the genetic causes in large pedigrees with gout by whole‑exome sequencing.

ABSTRACT: Gout is a common type of inflammatory arthritis that is clinically and genetically heterogeneous. The genetic aetiology remains unclear, and mainly relies on previous genome‑wide association studies focused on sporadic cases. The present study aimed to identify the genetic basis of gout in three families using whole‑exome sequencing (WES). WES was performed in the probands, and family members were involved in the co‑segregation analysis. In total, three deleterious rare or novel missense mutations were identified in ATP‑binding cassette super‑family G member 2 (ABCG2), protein kinase CGMP‑dependent 2 (PRKG2) and adrenoceptor β3 (ADRB3) genes in three different families. In addition, certain gout‑associated candidate genes were revealed to be shared among the co‑expression and protein‑prote

SUBMITTER: Xia X 

PROVIDER: S-EPMC7053847 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature