Characterisation of a functional intronic polymorphism in the human growth hormone (GHI) gene

• Published in: Human genomics Vol. 4; no. 5; pp. 289 - 301
• Main Authors: Millar, David S, Horan, Martin, Chuzhanova, Nadia A, Cooper, David N
• Format: Journal Article
• Language: English
• Published: England BioMed Central 01.06.2010; BioMed Central Ltd; BMC
• Subjects: 3' Flanking Region - genetics; Alleles; alternative splicing; Alternative Splicing - genetics; Animals; Base Sequence; Cell Line; Conserved Sequence - genetics; European Continental Ancestry Group - genetics; Evolution, Molecular; gene expression; Gene Expression Regulation; growth hormone (GHI) gene; Haplotypes - genetics; Human Growth Hormone - genetics; Humans; intronic functional polymorphism; Introns - genetics; Linkage Disequilibrium - genetics; Molecular Sequence Data; Polymorphism, Single Nucleotide - genetics; Primary Research; Promoter Regions, Genetic - genetics; protein secretion; Rats; RNA Splice Sites - genetics; Sequence Homology, Nucleic Acid; Somatotrophs - metabolism

The +1169A allele of the A/T single nucleotide polymorphism (SNP; rs2665802), located within intron 4 of the human growth hormone 1 ( GH1 ) gene, has been associated with reduced levels of circulating GH and insulin-like growth factor 1, a reduced risk of colorectal cancer and a predisposition to os...