PMID- 15928253
OWN - NLM
STAT- MEDLINE
DCOM- 20050914
LR  - 20181113
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 90
IP  - 8
DP  - 2005 Aug
TI  - Genetic analysis of families with autoimmune diabetes and thyroiditis: evidence 
      for common and unique genes.
PG  - 4904-11
AB  - CONTEXT: Epidemiological data suggest a common genetic susceptibility to type 1 
      diabetes (T1D) and autoimmune thyroid disease (AITD). OBJECTIVE: Our objective 
      was to identify the joint susceptibility genes for T1D and AITD. DESIGN: We 
      conducted a family-based linkage and association study. SETTING: The study took 
      place at an academic medical center. PARTICIPANTS: Participants included 55 
      multiplex families (290 individuals) in which T1D and AITD clustered (T1D-AITD 
      families). MAIN OUTCOME MEASURES: We conducted tests for linkage and family-based 
      associations (transmission disequilibrium test) with four candidate genes: human 
      leukocyte antigen (HLA), cytotoxic T lymphocyte-associated antigen 4 (CTLA-4), 
      insulin variable number of tandem repeats (VNTR), and thyroglobulin. RESULTS: 
      Linkage evidence to HLA appeared when subjects with either T1D or AITD were 
      considered affected [maximum LOD score (MLS), 2.2]. The major HLA haplotype 
      contributing to the shared susceptibility was DR3-DQB1*0201, with DR3 conferring 
      most of the shared risk. The CTLA-4 gene showed evidence for linkage only when 
      individuals with both T1D and AITD were considered affected (MLS, 1.7), and the 
      insulin VNTR showed evidence for linkage when individuals with either T1D or AITD 
      were considered affected (MLS, 1.9); i.e. it may contribute to the familial 
      aggregation of T1D and AITD. CONCLUSIONS: The HLA class II locus contributes to 
      the shared risk for T1D and AITD, and the major HLA haplotype contributing to 
      this association is DR3-DQB1*0201. Additional non-HLA loci contribute to the 
      joint susceptibility to T1D and AITD, and two potential candidates include the 
      CTLA-4 and insulin VNTR loci.
FAU - Golden, Brian
AU  - Golden B
AD  - Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, 
      Mount Sinai School of Medicine, New York, New York 10029, USA.
FAU - Levin, Lara
AU  - Levin L
FAU - Ban, Yoshiyuki
AU  - Ban Y
FAU - Concepcion, Erlinda
AU  - Concepcion E
FAU - Greenberg, David A
AU  - Greenberg DA
FAU - Tomer, Yaron
AU  - Tomer Y
LA  - eng
GR  - DK067555/DK/NIDDK NIH HHS/United States
GR  - NS27941/NS/NINDS NIH HHS/United States
GR  - R01 DK031775/DK/NIDDK NIH HHS/United States
GR  - DK61659/DK/NIDDK NIH HHS/United States
GR  - R01 DK067555/DK/NIDDK NIH HHS/United States
GR  - DK31775/DK/NIDDK NIH HHS/United States
GR  - R01 MH048858/MH/NIMH NIH HHS/United States
GR  - R01 NS027941/NS/NINDS NIH HHS/United States
GR  - R01 DK061659/DK/NIDDK NIH HHS/United States
GR  - MH48858/MH/NIMH NIH HHS/United States
PT  - Journal Article
PT  - Research Support, N.I.H., Extramural
PT  - Research Support, U.S. Gov't, P.H.S.
DEP - 20050531
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 (CTLA-4 Antigen)
RN  - 0 (CTLA4 protein, human)
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (HLA-DR3 Antigen)
RN  - 0 (Insulin)
RN  - 9010-34-8 (Thyroglobulin)
SB  - IM
MH  - Adult
MH  - Antigens, CD
MH  - Antigens, Differentiation/*genetics
MH  - CTLA-4 Antigen
MH  - Child
MH  - Diabetes Mellitus, Type 1/*genetics
MH  - Family Health
MH  - Female
MH  - Genetic Predisposition to Disease
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DQ beta-Chains
MH  - HLA-DR3 Antigen/genetics
MH  - Haplotypes
MH  - Histocompatibility Testing
MH  - Humans
MH  - Insulin/*genetics
MH  - Linkage Disequilibrium
MH  - Lod Score
MH  - Male
MH  - Tandem Repeat Sequences
MH  - Thyroglobulin/genetics
MH  - Thyroiditis, Autoimmune/*genetics
PMC - PMC1317090
MID - NIHMS5569
EDAT- 2005/06/02 09:00
MHDA- 2005/09/15 09:00
PMCR- 2008/01/26
CRDT- 2005/06/02 09:00
PHST- 2005/06/02 09:00 [pubmed]
PHST- 2005/09/15 09:00 [medline]
PHST- 2005/06/02 09:00 [entrez]
PHST- 2008/01/26 00:00 [pmc-release]
AID - jc.2004-2236 [pii]
AID - 10.1210/jc.2004-2236 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2005 Aug;90(8):4904-11. doi: 10.1210/jc.2004-2236. Epub 
      2005 May 31.