PMID- 12181776
OWN - NLM
STAT- MEDLINE
DCOM- 20021011
LR  - 20220408
IS  - 0002-9297 (Print)
IS  - 1537-6605 (Electronic)
IS  - 0002-9297 (Linking)
VI  - 71
IP  - 3
DP  - 2002 Sep
TI  - Dissecting the genetic complexity of the association between human leukocyte 
      antigens and rheumatoid arthritis.
PG  - 585-94
AB  - Rheumatoid arthritis (RA) is an inflammatory disease with a complex genetic 
      component. An association between RA and the human leukocyte antigen (HLA) 
      complex has long been observed in many different populations, and most studies 
      have focused on a direct role for the HLA-DRB1 "shared epitope" in disease 
      susceptibility. We have performed an extensive haplotype analysis, using 54 
      markers distributed across the entire HLA complex, in a set of 469 multicase 
      families with RA. The results show that, in addition to associations with the 
      DRB1 alleles, at least two additional genetic effects are present within the 
      major histocompatibility complex. One of these lies within a 497-kb region in the 
      central portion of the HLA complex, an interval that excludes DRB1. This genetic 
      risk factor is present on a segment of a highly conserved ancestral A1-B8-DRB1*03 
      (8.1) haplotype. Additional risk genes may also be present in the HLA class I 
      region in a subset of DRB1*0404 haplotypes. These data emphasize the importance 
      of defining haplotypes when trying to understand the HLA associations with 
      disease, and they clearly demonstrate that such associations with RA are complex 
      and cannot be completely explained by the DRB1 locus.
FAU - Jawaheer, Damini
AU  - Jawaheer D
AD  - Center for Genomics and Human Genetics, North Shore-Long Island Jewish Research 
      Institute, Manhasset, NY, 11030, USA.
FAU - Li, Wentian
AU  - Li W
FAU - Graham, Robert R
AU  - Graham RR
FAU - Chen, Wei
AU  - Chen W
FAU - Damle, Aarti
AU  - Damle A
FAU - Xiao, Xiangli
AU  - Xiao X
FAU - Monteiro, Joanita
AU  - Monteiro J
FAU - Khalili, Houman
AU  - Khalili H
FAU - Lee, Annette
AU  - Lee A
FAU - Lundsten, Robert
AU  - Lundsten R
FAU - Begovich, Ann
AU  - Begovich A
FAU - Bugawan, Teodorica
AU  - Bugawan T
FAU - Erlich, Henry
AU  - Erlich H
FAU - Elder, James T
AU  - Elder JT
FAU - Criswell, Lindsey A
AU  - Criswell LA
FAU - Seldin, Michael F
AU  - Seldin MF
FAU - Amos, Christopher I
AU  - Amos CI
FAU - Behrens, Timothy W
AU  - Behrens TW
FAU - Gregersen, Peter K
AU  - Gregersen PK
LA  - eng
SI  - OMIM/137100
SI  - OMIM/142395
SI  - OMIM/152700
SI  - OMIM/180300
SI  - OMIM/222100
SI  - OMIM/226990
SI  - OMIM/240500
GR  - M01 RR000079/RR/NCRR NIH HHS/United States
GR  - 5-M01-RR-00079/RR/NCRR NIH HHS/United States
GR  - P01-AR45231-SCOR/AR/NIAMS NIH HHS/United States
GR  - N01-AR7-2232/AR/NIAMS NIH HHS/United States
GR  - R01-AR44222/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 - 20020809
PL  - United States
TA  - Am J Hum Genet
JT  - American journal of human genetics
JID - 0370475
RN  - 0 (HLA Antigens)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
SB  - IM
MH  - Alleles
MH  - Arthritis, Rheumatoid/*genetics
MH  - Entropy
MH  - Genetic Predisposition to Disease/*genetics
MH  - HLA Antigens/*genetics
MH  - HLA-DR Antigens/genetics
MH  - HLA-DRB1 Chains
MH  - Haplotypes/genetics
MH  - Humans
MH  - Linkage Disequilibrium
MH  - Pedigree
MH  - Software
PMC - PMC449696
EDAT- 2002/08/16 10:00
MHDA- 2002/10/12 04:00
PMCR- 2003/03/01
CRDT- 2002/08/16 10:00
PHST- 2002/04/23 00:00 [received]
PHST- 2002/06/14 00:00 [accepted]
PHST- 2002/08/16 10:00 [pubmed]
PHST- 2002/10/12 04:00 [medline]
PHST- 2002/08/16 10:00 [entrez]
PHST- 2003/03/01 00:00 [pmc-release]
AID - S0002-9297(07)60338-3 [pii]
AID - 024026 [pii]
AID - 10.1086/342407 [doi]
PST - ppublish
SO  - Am J Hum Genet. 2002 Sep;71(3):585-94. doi: 10.1086/342407. Epub 2002 Aug 9.