PMID- 15356063
OWN - NLM
STAT- MEDLINE
DCOM- 20041007
LR  - 20171116
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 89
IP  - 9
DP  - 2004 Sep
TI  - Analysis of immune regulatory genes in familial and sporadic Graves' disease.
PG  - 4562-8
AB  - Graves' disease (GD) is seen in apparently sporadic and familial forms. At least 
      two immune regulatory genes are associated with GD, human leukocyte antigen (HLA) 
      and cytotoxic T lymphocyte antigen-4 (CTLA-4). The aim of our study was to 
      examine the contributions of HLA and CTLA-4 to the familial clustering of GD by 
      analyzing them for association with familial and sporadic GD. We analyzed 160 
      Caucasian GD patients (69 familial and 91 sporadic), and 150 matched controls. 
      Analysis of all GD patients demonstrated significant associations between GD and 
      HLA-DR3 [P = 9.0 x 10(-7); relative risk (RR) = 3.8] and two CTLA-4 single 
      nucleotide polymorphisms (SNPs), A/G(49) SNP (P = 0.03; RR = 1.5), and CT60 SNP 
      (P = 0.03; RR = 1.4). Moreover, there was evidence for joint susceptibility to 
      risk between HLA-DR3 and CTLA-4, giving a combined RR of 5.9. Subset analysis 
      demonstrated no significant difference between the frequencies of HLA-DR3 and the 
      susceptibility alleles of CTLA-4 A/G(49) and CT60 SNPs in the familial and 
      sporadic GD subsets (P > 0.05). These results suggested that HLA-DR3 and CTLA-4 
      conferred a general increased risk for GD in both the sporadic and familial 
      forms, and that the risk conferred by them was additive. However, HLA-DR3 and 
      CTLA-4 did not have a stronger effect in the familial GD patients, suggesting 
      that additional genes must contribute to the aggregation of GD within families.
FAU - Ban, Yoshiyuki
AU  - Ban Y
AD  - Division of Endocrinology, Diabetes, and Bone Diseases, Box 1055, Mount Sinai 
      School of Medicine, One Gustave L. Levy Place, New York, New York 10029, USA.
FAU - Concepcion, Erlinda S
AU  - Concepcion ES
FAU - Villanueva, Ronald
AU  - Villanueva R
FAU - Greenberg, David A
AU  - Greenberg DA
FAU - Davies, Terry F
AU  - Davies TF
FAU - Tomer, Yaron
AU  - Tomer Y
LA  - eng
GR  - DK-31775/DK/NIDDK NIH HHS/United States
GR  - DK-35764/DK/NIDDK NIH HHS/United States
GR  - DK-45011/DK/NIDDK NIH HHS/United States
GR  - DK-52464/DK/NIDDK NIH HHS/United States
GR  - DK-58072/DK/NIDDK NIH HHS/United States
GR  - DK-61659/DK/NIDDK NIH HHS/United States
GR  - MH-48858/MH/NIMH NIH HHS/United States
GR  - NS-27941/NS/NINDS 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.
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - 0 (Antigens, CD)
RN  - 0 (Antigens, Differentiation)
RN  - 0 (Antigens, Differentiation, T-Lymphocyte)
RN  - 0 (CD28 Antigens)
RN  - 0 (CTLA-4 Antigen)
RN  - 0 (CTLA4 protein, human)
RN  - 0 (HLA-DR3 Antigen)
RN  - 0 (ICOS protein, human)
RN  - 0 (Inducible T-Cell Co-Stimulator Protein)
SB  - IM
MH  - Alleles
MH  - Antigens, CD
MH  - Antigens, Differentiation/*genetics
MH  - Antigens, Differentiation, T-Lymphocyte/*genetics
MH  - CD28 Antigens/*genetics
MH  - CTLA-4 Antigen
MH  - Graves Disease/*genetics/immunology
MH  - HLA-DR3 Antigen/*genetics
MH  - Humans
MH  - Inducible T-Cell Co-Stimulator Protein
MH  - Polymorphism, Single Nucleotide
MH  - Thyroiditis, Autoimmune/genetics
EDAT- 2004/09/10 05:00
MHDA- 2004/10/08 09:00
CRDT- 2004/09/10 05:00
PHST- 2004/09/10 05:00 [pubmed]
PHST- 2004/10/08 09:00 [medline]
PHST- 2004/09/10 05:00 [entrez]
AID - 89/9/4562 [pii]
AID - 10.1210/jc.2003-031693 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2004 Sep;89(9):4562-8. doi: 10.1210/jc.2003-031693.