PMID- 11237226
OWN - NLM
STAT- MEDLINE
DCOM- 20010426
LR  - 20191104
IS  - 0079-9963 (Print)
IS  - 0079-9963 (Linking)
VI  - 56
DP  - 2001
TI  - Genetics of type 1A diabetes.
PG  - 69-89
AB  - Type 1A diabetes is an autoimmune disease with genetic and environmental factors 
      contributing to its etiology. Twin studies, family studies, and animal models 
      have helped to elucidate the genetics of autoimmune diabetes. Most of the genetic 
      susceptibility is accounted for by human leukocyte antigen (HLA) alleles. The 
      most-common susceptibility haplotypes are DQA1*0301-DQB1*0302 and 
      DQA1*0501-DQB1*0201. Less-common haplotypes such as DQA1*0401-DQB1*0402 and 
      DQA1*0101-DQB1*0501 are associated with high risk for diabetes; however, large 
      study populations are needed to analyze their effect. The DQA1*0102-DQB1*0602 
      haplotype is associated with diabetes resistance. DR molecules, such as 
      DRB1*1401, confer protection from diabetes. Monozygotic twins of patients with 
      type 1A diabetes have a diabetes risk higher than that for HLA-identical ordinary 
      siblings, suggesting that non-HLA genes contribute to diabetes risk. 
      Polymorphisms in the regulatory region of the insulin gene (designated IDDM2), 
      polymorphisms in cytotoxic T lymphocyte antigen-4 (CTLA-4) gene (IDDM12), and 
      other genes are likely to contribute to diabetes risk and susceptibility in some 
      individuals. In selected families, major diabetogenes (e.g., IDDM17, autoimmune 
      regulator gene (AIRE)) are likely to be of importance. Other factors--either 
      noninherited genes (i.e., somatic mutations and T-cell receptor or immunoglobulin 
      rearrangements) or environment--may have a role in progression to diabetes. This 
      is suggested by the finding that the risk for monozygotic twins of patients with 
      type 1A diabetes is not 100 percent. Studying the genetics of type 1A diabetes 
      will allow us to better define this disease, to improve our ability to identify 
      individuals at risk, and to predict the risk of associated disorders.
FAU - Redondo, M J
AU  - Redondo MJ
AD  - Barbara Davis Center for Childhood Diabetes, University of Colorado Health 
      Sciences Center, Denver 80262, USA.
FAU - Fain, P R
AU  - Fain PR
FAU - Eisenbarth, G S
AU  - Eisenbarth GS
LA  - eng
PT  - Journal Article
PT  - Review
PL  - United States
TA  - Recent Prog Horm Res
JT  - Recent progress in hormone research
JID - 0404471
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ alpha-Chains)
RN  - 0 (HLA-DQ beta-Chains)
RN  - 0 (HLA-DQA1 antigen)
RN  - 0 (HLA-DQB1 antigen)
RN  - 0 (Insulin)
SB  - IM
MH  - Alleles
MH  - Diabetes Mellitus, Type 1/*genetics
MH  - Family Health
MH  - Genetic Predisposition to Disease
MH  - HLA-DQ Antigens/genetics
MH  - HLA-DQ alpha-Chains
MH  - HLA-DQ beta-Chains
MH  - Haplotypes
MH  - Humans
MH  - Insulin/genetics
MH  - Major Histocompatibility Complex/genetics
MH  - Models, Genetic
MH  - Polymorphism, Genetic
MH  - Risk Factors
MH  - Time Factors
MH  - Twin Studies as Topic
RF  - 100
EDAT- 2001/03/10 10:00
MHDA- 2001/05/01 10:01
CRDT- 2001/03/10 10:00
PHST- 2001/03/10 10:00 [pubmed]
PHST- 2001/05/01 10:01 [medline]
PHST- 2001/03/10 10:00 [entrez]
AID - 10.1210/rp.56.1.69 [doi]
PST - ppublish
SO  - Recent Prog Horm Res. 2001;56:69-89. doi: 10.1210/rp.56.1.69.