Genetic epidemiology of type 1 diabetes

Hirschhorn, Joel N.

^aDivisions of Genetics and Endocrinology, Children's Hospital, Boston, MA, USA
^bDepartment of Genetics, Harvard Medical School, Boston, MA, USA
^cCenter for Genome Research, Whitehead/MIT, Cambridge, MA, USA

Corresponding author: JN Hirschhorn, Enders 561, Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. Tel: 617-355-8837; fax: 617-277-0496; e-mail: [email protected]

Submitted 27 December 2002. Accepted for publication 4 March 2003

Pediatric Diabetes 4(2):p 87-100, June 2003.

Family and twin studies indicate that a substantial fraction of susceptibility to type 1 diabetes is attributable to genetic factors. These and other epidemiologic studies also implicate environmental factors as important triggers. Although the specific environmental factors that contribute to immune-mediated diabetes remain unknown, several of the relevant genetic factors have been identified using two main approaches: genome-wide linkage analysis and candidate gene association studies. This article reviews the epidemiology of type 1 diabetes, the relative merits of linkage and association studies, and the results achieved so far using these two approaches. Prospects for the future of type 1 diabetes genetics research are considered.