PMID- 1961115
OWN - NLM
STAT- MEDLINE
DCOM- 19920107
LR  - 20190725
IS  - 0026-0495 (Print)
IS  - 0026-0495 (Linking)
VI  - 40
IP  - 12
DP  - 1991 Dec
TI  - HLA-DR and the 5' insulin gene polymorphism in insulin-dependent diabetes.
PG  - 1244-8
AB  - While the human leukocyte antigen (HLA) region provides the major susceptibility 
      for insulin-dependent (type I) diabetes mellitus (IDDM), other (non-HLA) genes 
      must also play a role. Population studies have shown an increased frequency of 
      small insertions (class I alleles) 5' to the insulin gene in individuals with 
      IDDM, suggesting that this region may account for part, if not all, of the 
      non-HLA genetic predisposition. However, no data are available as to whether the 
      relation of the insulin gene polymorphism is to a DR-defined subset of IDDM or 
      with all of IDDM. To test the hypothesis that specific combinations of HLA and 
      insulin gene polymorphism alleles may interact in providing susceptibility for 
      IDDM, HLA-DR and 5' insulin gene insertion size have been determined in 300 
      individuals with IDDM. The frequency of class 1 insulin gene alleles in the 
      entire sample is 0.79 and the frequency of class 3 alleles (large inserts) is 
      0.20. The frequencies of class 1 alleles were equal across all DR classes: 0.79 
      in the DR3/X IDDM subjects, 0.80 in the DR4/X, 0.79 in the DR3/4, and 0.78 in 
      those with DRX/X. Additionally, the frequencies of class 1/1 homozygotes and 1/3 
      heterozygotes were similar between HLA-DR types. These results suggest that the 
      HLA region and the region 5' to the insulin gene provide independent and 
      nonsynergistic genetic risks for IDDM.
FAU - Raffel, L J
AU  - Raffel LJ
AD  - Department of Pediatrics, University of Maryland School of Medicine, Baltimore.
FAU - Vadheim, C M
AU  - Vadheim CM
FAU - Klein, R
AU  - Klein R
FAU - Moss, S E
AU  - Moss SE
FAU - Riley, W J
AU  - Riley WJ
FAU - Maclaren, N K
AU  - Maclaren NK
FAU - Rotter, J I
AU  - Rotter JI
LA  - eng
GR  - AM 01421/AM/NIADDK NIH HHS/United States
GR  - EY 05369/EY/NEI NIH HHS/United States
GR  - HD 19469/HD/NICHD NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Metabolism
JT  - Metabolism: clinical and experimental
JID - 0375267
RN  - 0 (HLA-DR Antigens)
RN  - 0 (Insulin)
SB  - IM
MH  - Diabetes Mellitus, Type 1/*genetics/immunology
MH  - Gene Frequency
MH  - *Genes
MH  - HLA-DR Antigens/*analysis
MH  - Humans
MH  - Insulin/*genetics
MH  - *Polymorphism, Genetic
EDAT- 1991/12/01 00:00
MHDA- 1991/12/01 00:01
CRDT- 1991/12/01 00:00
PHST- 1991/12/01 00:00 [pubmed]
PHST- 1991/12/01 00:01 [medline]
PHST- 1991/12/01 00:00 [entrez]
AID - 0026-0495(91)90023-P [pii]
AID - 10.1016/0026-0495(91)90023-p [doi]
PST - ppublish
SO  - Metabolism. 1991 Dec;40(12):1244-8. doi: 10.1016/0026-0495(91)90023-p.