Abstract
The identification of functionally relevant polymorphisms of peptidylarginine deiminase 4, an enzyme that catalyzes the post-translational citrullination of proteins, as a rheumatoid arthritis gene is one of the most convincing success stories of complex disease gene mapping to date. In addition to an extensive single nucleotide polymorphism-based association study in a Japanese cohort, a range of techniques have been used to validate this finding.
Publication types
-
Research Support, Non-U.S. Gov't
-
Review
MeSH terms
-
Arthritis, Rheumatoid / genetics*
-
Arthritis, Rheumatoid / immunology
-
Arthritis, Rheumatoid / metabolism
-
Chromosomes, Human, Pair 1 / genetics
-
Humans
-
Hydrolases / genetics*
-
Hydrolases / metabolism
-
Polymorphism, Single Nucleotide / genetics*
-
Protein-Arginine Deiminase Type 4
-
Protein-Arginine Deiminases
Substances
-
Hydrolases
-
PADI4 protein, human
-
Protein-Arginine Deiminase Type 4
-
Protein-Arginine Deiminases