PMID- 9768636
OWN - NLM
STAT- MEDLINE
DCOM- 19981105
LR  - 20111117
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 83
IP  - 10
DP  - 1998 Oct
TI  - Linkage disequilibrium between the human leukocyte antigen class II region of the 
      major histocompatibility complex and Graves' disease: replication using a 
      population case control and family-based study.
PG  - 3394-7
AB  - Early case control studies found association of the DRB1 allele, DR3, with 
      Graves' disease (GD). Recent reports, claim the DQA1 allele, DQA1*0501, to be the 
      primary susceptibility determinant within the human leukocyte antigen (HLA) class 
      II region. We typed 228 GD patients, 364 controls, and 98 families (parents, GD, 
      and unaffected sibling) at the DRB1, DQB1, and DQA1 loci. The case control study 
      showed an increased frequency in GD, compared to controls, of DRB1*0304 (47% vs. 
      24%; pc < 1.4 x 10(-5)), DQB1*02 (58% vs. 46%; pc < 0.035), DQB1*0301/4 (42% vs. 
      28%; pc < 3.5 x 10(-3)) and DQA1*0501 (67%, vs. 39%; pc < 7 x 10(-6)). The 
      DRB1*0304-DQB1*02-DQA1*0501 haplotype was increased in GD (47%) vs. controls 
      (24%; pc < 1.8 x 10(-5); odds ratio = 2.72). No independent association of these 
      alleles was observed. Preferential transmission of DRB1*0304-DQB1*02-DQA1*0501 
      from parents heterozygous for the haplotype to GD siblings (72%) was seen in the 
      families (chi2 = 11.95; 1 d.f.; P = 0.0005). Lack of preferential transmission to 
      unaffected siblings (53%; chi2 = 0.19; 1 d.f.; P = NS) excluded segregation 
      distortion. These results show that linkage disequilibrium between GD and the HLA 
      class II region is due to the extended haplotype DRB1*0304-DQB1*02-DQA1*0501.
FAU - Heward, J M
AU  - Heward JM
AD  - Department of Medicine, University of Birmingham, Queen Elizabeth Hospital, 
      United Kingdom.
FAU - Allahabadia, A
AU  - Allahabadia A
FAU - Daykin, J
AU  - Daykin J
FAU - Carr-Smith, J
AU  - Carr-Smith J
FAU - Daly, A
AU  - Daly A
FAU - Armitage, M
AU  - Armitage M
FAU - Dodson, P M
AU  - Dodson PM
FAU - Sheppard, M C
AU  - Sheppard MC
FAU - Barnett, A H
AU  - Barnett AH
FAU - Franklyn, J A
AU  - Franklyn JA
FAU - Gough, S C
AU  - Gough SC
LA  - eng
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
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  - 0 (Histocompatibility Antigens Class II)
SB  - IM
CIN - J Clin Endocrinol Metab. 1998 Oct;83(10):3391-3. PMID: 9768635
MH  - Alleles
MH  - Case-Control Studies
MH  - Fathers
MH  - Female
MH  - Genetic Linkage/*genetics
MH  - Graves Disease/*genetics/*immunology
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  - Haplotypes
MH  - Histocompatibility Antigens Class II/*genetics
MH  - Humans
MH  - Male
MH  - Mothers
MH  - Reference Values
EDAT- 1998/10/13 00:00
MHDA- 1998/10/13 00:01
CRDT- 1998/10/13 00:00
PHST- 1998/10/13 00:00 [pubmed]
PHST- 1998/10/13 00:01 [medline]
PHST- 1998/10/13 00:00 [entrez]
AID - 10.1210/jcem.83.10.5137 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 1998 Oct;83(10):3394-7. doi: 10.1210/jcem.83.10.5137.