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This version published online on May 31, 2005
Journal of Clinical Endocrinology & Metabolism, doi:10.1210/jc.2004-2236
A more recent version of this article appeared on August 1, 2005
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Submitted on November 15, 2004
Accepted on May 23, 2005

GENETIC ANALYSIS OF FAMILIES WITH AUTOIMMUNE DIABETES AND THYROIDITIS: EVIDENCE FOR COMMON AND UNIQUE GENES

Brian Golden, Lara Levin, Yoshiyuki Ban, Erlinda Concepcion, David A. Greenberg, and Yaron Tomer*

Division of Endocrinology, Diabetes, and Bone Diseases, Department of Medicine, Mount Sinai School of Medicine and Division of Statistical Genetics, Columbia University, New York, NY, USA

* To whom correspondence should be addressed. E-mail: Yaron.Tomer{at}mssm.edu.

Context: Epidemiological data suggest a common genetic susceptibility to Type 1 diabetes (T1D) and autoimmune thyroid disease (AITD).

Objective: To identify the joint susceptibility genes for T1D and AITD.

Design: Family based linkage and association study.

Setting: Academic medical center.

Participants: 55 multiplex families (290 individuals) in which T1D and AITD clustered ("T1D-AITD families").

Main Outcome Measures: Tests for linkage and family-based associations (TDT) with 4 candidate genes, HLA, CTLA-4, insulin VNTR, and thyroglobulin.

Results: Linkage evidence to HLA appeared when subjects with either T1D or AITD were considered affected (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+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.
Key words: Type 1 diabetes • Genetics • HLA • Autoimmune thyroid disease • linkage • association




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