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.
Behrens
Timothy W
TW
Department of Medicine, Center for Immunology, University of Minnesota Medical School, Minneapolis, 55455, USA.
Graham
Robert R
RR
Kyogoku
Chieko
C
Baechler
Emily C
EC
Ramos
Paula S
PS
Gillett
Clarence
C
Bauer
Jason
J
Ortmann
Ward A
WA
Hippen
Keli L
KL
Peterson
Erik
E
Langefeld
Carl D
CD
Moser
Kathy L
KL
Gaffney
Patrick M
PM
Gregersen
Peter K
PK
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