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Revista médica de Chile

Print version ISSN 0034-9887


GARCIA D, Diego et al. Association of GHRd3 variant of growth hormone receptor gene with autoimmunity in type 1 diabetes. Rev. méd. Chile [online]. 2009, vol.137, n.5, pp.609-616. ISSN 0034-9887.

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.

Keywords : Diabetes mellitus, Type 1; Cytokines; Human growth hormone.

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