[Association of GHRd3 variant of growth hormone receptor gene with autoimmunity in type 1 diabetes].
BACKGROUND
Growth Hormone Receptor (GRH) is expressed in the liver, pancreas, stomach and small intestine. A high expression of GHR mRNA in the mucosal gut suggests a possible role of this receptor on digestive and immune functions.


OBJECTIVE
To investigate the putative effects of the GHRd3 variants on the cytokine profile and distribution of auto-antibodies in children with type 1 diabetes (T1D).


METHODS
Unrelated unaffected controls (n =192) and incident cases of children with T1D (n =127) were analyzed for GHRd3 polymorphism, cytokine profile and a panel of auto-antibodies.


RESULTS
The allele frequency for d3 was 24.8% in type 1 diabetics and 34.1% in controls (p =NS). Among type 1 diabetic children, the carriers of the GHRd3 polymorphism had significantly higher levels of interleukin-lB than homozygous for the wild type genotype (5.7 and 17.7, pg/ml respectively p <0.015). Carriers of d3 variant had a higher frequency of positive anti-insulin antibodies (anti-IAA) than children without this variant (39.6 and 17.7% respectively, p <0.01).


CONCLUSIONS
The observed frequency of the GHR d3/d3 genotype was comparable to other reports. A relationship between d3 variant and anti-IAA antibodies and interleukin-lss was observed.
García D
Diego
D
Instituto de Nutrición y Tecnología de los Alimentos , Universidad de Chile, Santiago, Chile.
Oyarzún A
Amaya
A
Angel B
Bárbara
B
Carrasco P
Elena
E
Pérez B
Francisco
F
D001323:Autoantibodies / Q000097:blood* / Q000235:genetics; D015551:Autoimmunity / Q000235:genetics*; D016022:Case-Control Studies; D002648:Child; D016207:Cytokines / Q000097:blood*; D003922:Diabetes Mellitus, Type 1 / Q000235:genetics* / Q000276:immunology; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007330:Insulin Antibodies / Q000097:blood* / Q000235:genetics; D008297:Male; D011110:Polymorphism, Genetic; D011986:Receptors, Somatotropin / Q000235:genetics*
D001323:Autoantibodies; D016207:Cytokines; D007330:Insulin Antibodies; D011986:Receptors, Somatotropin