PMID- 12145745
OWN - NLM
STAT- MEDLINE
DCOM- 20021011
LR  - 20240509
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 71
IP  - 3
DP  - 2002 Sep
TI  - Visualizing human leukocyte antigen class II risk haplotypes in human systemic 
      lupus erythematosus.
PG  - 543-53
AB  - Human leukocyte antigen (HLA) class I and class II alleles are implicated as 
      genetic risk factors for many autoimmune diseases. However, the role of the HLA 
      loci in human systemic lupus erythematosus (SLE) remains unclear. Using a dense 
      map of polymorphic microsatellites across the HLA region in a large collection of 
      families with SLE, we identified three distinct haplotypes that encompassed the 
      class II region and exhibited transmission distortion. DRB1 and DQB1 typing of 
      founders showed that the three haplotypes contained DRB1*1501/ DQB1*0602, 
      DRB1*0801/ DQB1*0402, and DRB1*0301/DQB1*0201 alleles, respectively. By 
      visualizing ancestral recombinants, we narrowed the disease-associated haplotypes 
      containing DRB1*1501 and DRB1*0801 to an approximately 500-kb region. We conclude 
      that HLA class II haplotypes containing DRB1 and DQB1 alleles are strong risk 
      factors for human SLE.
FAU - Graham, Robert R
AU  - Graham RR
AD  - Department of Medicine, Division of Rheumatic and Autoimmune Diseases, University 
      of Minnesota Medical School, Minneapolis, MN, 55455, USA.
FAU - Ortmann, Ward A
AU  - Ortmann WA
FAU - Langefeld, Carl D
AU  - Langefeld CD
FAU - Jawaheer, Damini
AU  - Jawaheer D
FAU - Selby, Scott A
AU  - Selby SA
FAU - Rodine, Peter R
AU  - Rodine PR
FAU - Baechler, Emily C
AU  - Baechler EC
FAU - Rohlf, Kristine E
AU  - Rohlf KE
FAU - Shark, Katherine B
AU  - Shark KB
FAU - Espe, Karl J
AU  - Espe KJ
FAU - Green, Linda E
AU  - Green LE
FAU - Nair, Rajan P
AU  - Nair RP
FAU - Stuart, Philip E
AU  - Stuart PE
FAU - Elder, James T
AU  - Elder JT
FAU - King, Richard A
AU  - King RA
FAU - Moser, Kathy L
AU  - Moser KL
FAU - Gaffney, Patrick M
AU  - Gaffney PM
FAU - Bugawan, Teodorica L
AU  - Bugawan TL
FAU - Erlich, Henry A
AU  - Erlich HA
FAU - Rich, Stephen S
AU  - Rich SS
FAU - Gregersen, Peter K
AU  - Gregersen PK
FAU - Behrens, Timothy W
AU  - Behrens TW
LA  - eng
SI  - OMIM/152700
GR  - N01AR72232/CA/NCI NIH HHS/United States
GR  - P01-AR45231/AR/NIAMS NIH HHS/United States
GR  - R01-AR44222/AR/NIAMS NIH HHS/United States
GR  - N01-AR72232/AR/NIAMS NIH HHS/United States
GR  - R01 AR043274/AR/NIAMS NIH HHS/United States
GR  - R01-AR43274/AR/NIAMS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20020726
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 0 (HLA-DRB1*03:01 antigen)
SB  - IM
MH  - Alleles
MH  - Case-Control Studies
MH  - Founder Effect
MH  - *Genetic Predisposition to Disease
MH  - Genotype
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes/*genetics
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Lod Score
MH  - Lupus Erythematosus, Systemic/*genetics
MH  - Recombination, Genetic
PMC - PMC379191
EDAT- 2002/07/30 10:00
MHDA- 2002/10/12 04:00
PMCR- 2003/03/01
CRDT- 2002/07/30 10:00
PHST- 2002/04/22 00:00 [received]
PHST- 2002/06/11 00:00 [accepted]
PHST- 2002/07/30 10:00 [pubmed]
PHST- 2002/10/12 04:00 [medline]
PHST- 2002/07/30 10:00 [entrez]
PHST- 2003/03/01 00:00 [pmc-release]
AID - S0002-9297(07)60334-6 [pii]
AID - 024019 [pii]
AID - 10.1086/342290 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2002 Sep;71(3):543-53. doi: 10.1086/342290. Epub 2002 Jul 26.