Additive effect of GHRd3 and COLIA1 polymorphisms on the GH-substitution dose in GH-deficient adults.

Unlabelled: The exon 3-deleted/full-length growth hormone receptor (GHRd3) polymorphism and the collagen type Iα 1-specific protein 1 (COLIA1) polymorphism have each recently been linked to the responsiveness to recombinant growth hormone (GH) treatment in GH-deficient adults. In this context, one or two GHRd3 alleles and the homozygous COLIA1 TT genotype were each associated with a significantly lower GH dose.

Aim: The aim of this pilot study was to test if these polymorphisms together have an additive effect on the individually required GH dose in adults with GH deficiency.