PMID- 22876559
OWN - NLM
STAT- MEDLINE
DCOM- 20120904
LR  - 20190907
IS  - 0334-018X (Print)
IS  - 0334-018X (Linking)
VI  - 25
IP  - 5-6
DP  - 2012
TI  - Influence of HLA DQ 2/8 genotypes in predisposing type 1 diabetes in siblings of 
      a Saudi family with paternally inherited chromosomal translocations.
PG  - 569-72
AB  - Type 1 diabetes is one of the most widely studied complex genetic disorders and 
      the genes in human leukocyte antigen (HLA) locus are reported to account 
      approximately 40%-50% of familial aggregation of type 1 diabetes. Genetic markers 
      are helpful in assessing the risk of type 1 diabetes in the general population as 
      well as in close relatives of a patient with type 1 diabetes. The major genetic 
      determinants of this disease are polymorphisms of class II HLA genes encoding DQ 
      and DR. The major susceptibility genes for type 1 diabetes are in the HLA region, 
      and over 90% of patients carry genotypes DR4, DQ8 and/or DR3, DQ2. Absence of the 
      above alleles makes type 1 diabetes very unlikely, especially if the subject 
      carries protective genotypes such as DR2 and/or DQ6. In this brief report of a 
      consanguineous Saudi family, four offsprings inherited one or both of balanced 
      reciprocal translocations from their father. Two offsprings, one with a 
      translocation and the other without, developed type 1 diabetes during early 
      childhood. Both these diabetic children were found to have HLA genotype DQ 2/8, 
      whereas the father and the youngest daughter, both carrying two sets of balanced 
      translocations as well as the protective HLA genotype DQ6, were free of diabetes 
      during several years of observation. This underscores the influence of HLA 
      genotype DQ 2/8 in the susceptibility and DQ6 in the protective effect on type 1 
      diabetes even in individuals with gross chromosomal abnormalities.
FAU - Cherian, Mathew P
AU  - Cherian MP
AD  - Department of Pediatrics, KIMS Hospital and Surgical Center, Cochin-682033, 
      India. mathewpcherian@yahoo.com
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Germany
TA  - J Pediatr Endocrinol Metab
JT  - Journal of pediatric endocrinology & metabolism : JPEM
JID - 9508900
RN  - 0 (HLA-DQ Antigens)
RN  - 0 (HLA-DQ2 antigen)
RN  - 0 (HLA-DQ8 antigen)
SB  - IM
MH  - Adolescent
MH  - Arabs/*genetics
MH  - Child
MH  - Diabetes Mellitus, Type 1/ethnology/*genetics
MH  - Family Health
MH  - Female
MH  - Genetic Predisposition to Disease/ethnology/genetics
MH  - Genotype
MH  - HLA-DQ Antigens/*genetics
MH  - Humans
MH  - Male
MH  - Middle Aged
MH  - Saudi Arabia/epidemiology
MH  - Translocation, Genetic/*genetics
MH  - Young Adult
EDAT- 2012/08/11 06:00
MHDA- 2012/09/05 06:00
CRDT- 2012/08/11 06:00
PHST- 2012/08/11 06:00 [entrez]
PHST- 2012/08/11 06:00 [pubmed]
PHST- 2012/09/05 06:00 [medline]
AID - 10.1515/jpem-2011-0479 [doi]
PST - ppublish
SO  - J Pediatr Endocrinol Metab. 2012;25(5-6):569-72. doi: 10.1515/jpem-2011-0479.