[Association of GHRd3 variant of growth hormone receptor gene with autoimmunity in type 1 diabetes]

Rev Med Chil. 2009 May;137(5):609-16. Epub 2009 Jul 17.
[Article in Spanish]

Abstract

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.

Aim: 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).

Material and 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.

Publication types

  • English Abstract
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoantibodies / blood*
  • Autoantibodies / genetics
  • Autoimmunity / genetics*
  • Case-Control Studies
  • Child
  • Cytokines / blood*
  • Diabetes Mellitus, Type 1 / genetics*
  • Diabetes Mellitus, Type 1 / immunology
  • Female
  • Gene Frequency
  • Genotype
  • Humans
  • Insulin Antibodies / blood*
  • Insulin Antibodies / genetics
  • Male
  • Polymorphism, Genetic
  • Receptors, Somatotropin / genetics*

Substances

  • Autoantibodies
  • Cytokines
  • Insulin Antibodies
  • Receptors, Somatotropin