PMID- 12556395
OWN - NLM
STAT- MEDLINE
DCOM- 20030210
LR  - 20220317
IS  - 0146-0404 (Print)
IS  - 0146-0404 (Linking)
VI  - 44
IP  - 2
DP  - 2003 Feb
TI  - Strong associations between specific HLA-DQ and HLA-DR alleles and the 
      tubulointerstitial nephritis and uveitis syndrome.
PG  - 653-7
AB  - PURPOSE: To identify genetic markers for the tubulointerstitial nephritis and 
      uveitis (TINU) syndrome by using human leukocyte antigen (HLA) genotyping. 
      METHODS: Eighteen patients who had TINU syndrome were evaluated at three 
      institutions. Typing of class I and II genes was performed by using DNA-based 
      techniques. RESULTS: Significant associations were found with HLA-B14 (6/18 
      patients, 33.3%; control subjects, 5.5%; P = 0.0003; relative risk [RR] = 8.5), 
      HLA-DQA1*01 (17/18 patients, 94.4%; control subjects, 46.6%, P = 0.0001; RR = 
      19.5), HLA-DQA1*0101 (14/18 patients, 77.8%; control subjects 22.2%; P < 0.0001; 
      RR = 12.2), HLA-DQB1*05 (14/18 patients, 77.8%; control subjects 17.7%; P < 
      0.0001; RR = 16.3), HLA-DQB1*0501 (13/18 patients, 72.2%; control subjects 12.9%; 
      P < 0.0001; RR = 17.6), HLA-DRB1*01 (14/18 patients, 77.8%; control subjects, 
      12.1%; P < 0.0001; RR = 25.5), and HLA-DRB1*0102 (13/18 patients, 72.2%; control 
      subjects, 1.6%; P < 0.0001, RR = 167.1). The HLA haplotype most frequently 
      identified in the study patients was HLA-DQA1*01/DQB1*05/DRB1*01 (13/18 patients, 
      72.2%). CONCLUSIONS: TINU syndrome is strongly associated with HLA-DQA1*01, 
      HLA-DQB1*05, and HLA-DRB1*01. The association with HLA-DRB1*0102 is one of the 
      highest reported for any disease. Because these genes are in linkage 
      disequilibrium, the role of the individual alleles is difficult to assess. Based 
      on the results of the present study and on previously reported HLA associations 
      in patients with TINU syndrome, the alphabeta dimer encoded by 
      HLA-DQA1*01/DQB1*05 may be particularly important in conferring risk for 
      development of this disease.
FAU - Levinson, Ralph D
AU  - Levinson RD
AD  - Ocular Inflammatory Disease Center, Jules Stein Eye Institute, UCLA 
      Immunogenetics Center, University of California Los Angeles School of Medicine, 
      Los Angeles, California 90095, USA. levinson@jsei.ucla.edu
FAU - Park, Min S
AU  - Park MS
FAU - Rikkers, Sarah M
AU  - Rikkers SM
FAU - Reed, Elaine F
AU  - Reed EF
FAU - Smith, Justine R
AU  - Smith JR
FAU - Martin, Tammy M
AU  - Martin TM
FAU - Rosenbaum, James T
AU  - Rosenbaum JT
FAU - Foster, C Stephen
AU  - Foster CS
FAU - Sherman, Mark D
AU  - Sherman MD
FAU - Holland, Gary N
AU  - Holland GN
LA  - eng
PT  - Journal Article
PT  - Multicenter Study
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Invest Ophthalmol Vis Sci
JT  - Investigative ophthalmology & visual science
JID - 7703701
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR Antigens)
RN  - 0 (HLA-DRB1 Chains)
RN  - 9007-49-2 (DNA)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Child
MH  - DNA/analysis
MH  - Female
MH  - Gene Frequency
MH  - Genetic Linkage
MH  - Genotype
MH  - HLA-DQ Antigens/*genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - HLA-DR Antigens/*genetics
MH  - HLA-DRB1 Chains
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Nephritis, Interstitial/*genetics
MH  - Syndrome
MH  - Uveitis/*genetics
EDAT- 2003/01/31 04:00
MHDA- 2003/02/11 04:00
CRDT- 2003/01/31 04:00
PHST- 2003/01/31 04:00 [pubmed]
PHST- 2003/02/11 04:00 [medline]
PHST- 2003/01/31 04:00 [entrez]
AID - 10.1167/iovs.02-0376 [doi]
PST - ppublish
SO  - Invest Ophthalmol Vis Sci. 2003 Feb;44(2):653-7. doi: 10.1167/iovs.02-0376.