A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes.
We report that a single-nucleotide polymorphism (SNP) in the gene (PTPN22) encoding the lymphoid protein tyrosine phosphatase (LYP), a suppressor of T-cell activation, is associated with type 1 diabetes mellitus (T1D). The variants encoded by the two alleles, 1858C and 1858T, differ in a crucial amino acid residue involved in association of LYP with the negative regulatory kinase Csk. Unlike the variant encoded by the more common allele 1858C, the variant associated with T1D does not bind Csk.
Program of Signal Transduction, Cancer Research Center, The Burnham Institute, 10901 North Torrey Pines Road, La Jolla, California 92037, USA.
Nunzio
N
Bottini
Lucia
L
Musumeci
Andres
A
Alonso
Souad
S
Rahmouni
Konstantina
K
Nika
Masoud
M
Rostamkhani
James
J
MacMurray
Gian Franco
GF
Meloni
Paola
P
Lucarelli
Maurizio
M
Pellecchia
George S
GS
Eisenbarth
David
D
Comings
Tomas
T
Mustelin
D003922:Diabetes Mellitus, Type 1 / Q000201:enzymology / Q000235:genetics*; D005819:Genetic Markers; D006801:Humans; D020641:Polymorphism, Single Nucleotide; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases / Q000235:genetics / Q000378:metabolism*
D005819:Genetic Markers; D054562:Protein Tyrosine Phosphatase, Non-Receptor Type 1; D017027:Protein Tyrosine Phosphatases