The genetics of autoimmune endocrine disease.
The common autoimmune endocrinopathies result from an interaction between environmental factors and genetic predisposition. Several chromosomal gene regions have been shown to contribute to more than one disease, supporting the clinical observation that the autoimmune endocrine diseases cluster within individuals and families. Genetic studies have implicated the major histocompatability complex (MHC)-human leucocyte antigen (HLA) genes on chromosome 6p21, although this chromosomal region does not explain all of the genetic contribution to the various disorders. Non-MHC-HLA genes, including disease-specific loci, are beginning to be identified and the publication of the draft sequence of the human genome will undoubtedly expediate future discoveries. Combined with the establishment of large cohorts of subjects with disease and the development of technology capable of performing high-throughput genotyping, genetic studies are likely to impact on the future treatment and prevention of the common autoimmune endocrine diseases.
Tait
Karen F
KF
Division of Medical Sciences, University of Birmingham, Edgbaston and Birmingham Heartlands Hospital, Bordesley Green East, Birmingham, UK.
Gough
Stephen C L
SC
D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics; D001327:Autoimmune Diseases / Q000235:genetics*; D060908:CTLA-4 Antigen; D002874:Chromosome Mapping; D004700:Endocrine System Diseases / Q000235:genetics* / Q000276:immunology*; D005805:Genes, MHC Class I; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D006801:Humans; D007328:Insulin / Q000235:genetics; D018167:Receptors, Calcitriol / Q000235:genetics; D011989:Receptors, Thyrotropin / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D000096927:AIRE Protein
D015703:Antigens, CD; D000943:Antigens, Differentiation; D060908:CTLA-4 Antigen; D007328:Insulin; D018167:Receptors, Calcitriol; D011989:Receptors, Thyrotropin; D014157:Transcription Factors; D000096927:AIRE Protein; C556706:CTLA4 protein, human