Missense mutation in PRKCQ is associated with Crohn's disease.

Yu Wei ZhangXiao Ying XuJie ZhangXin YaoChao LuChun Xiao ChenChao Hui YuJing Sun

Published in: Journal of digestive diseases (2019)

Our research revealed an association between the PRKCQ rs2236379 (C>T) and CD. The TT homozygous mutation increased the risk of developing CD and may contribute to perianal disease.

Keyphrases

intellectual disability
nk cells
hidradenitis suppurativa