Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus.
In order to better understand the genetic factors that initiate systemic lupus erythematosus (SLE), we are using both linkage and association approaches to identify susceptibility genes for the disease. Association studies have recently identified three HLA Class II haplotypes as well as a functional missense polymorphism in protein tyrosine phosphatase (PTP) PTPN22 as important risk alleles for SLE. Here, we will review these data, and explain how these findings contribute to an understanding of the genetic architecture of human SLE.
Department of Medicine, Center for Immunology, University of Minnesota Medical School, Minneapolis, 55455, USA.
Timothy W
TW
Behrens
Robert R
RR
Graham
Chieko
C
Kyogoku
Emily C
EC
Baechler
Paula S
PS
Ramos
Clarence
C
Gillett
Jason
J
Bauer
Ward A
WA
Ortmann
Keli L
KL
Hippen
Erik
E
Peterson
Carl D
CD
Langefeld
Kathy L
KL
Moser
Patrick M
PM
Gaffney
Peter K
PK
Gregersen
D000483:Alleles; D006680:HLA Antigens / Q000235:genetics; D006239:Haplotypes; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D020125:Mutation, Missense; D011110:Polymorphism, Genetic; D017027:Protein Tyrosine Phosphatases / Q000235:genetics
D006680:HLA Antigens; D017027:Protein Tyrosine Phosphatases