Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

doi:10.1186/1479-7364-4-5-289

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Article

Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.

Human genomics - 1 Jun 2010

Millar David S, Horan Martin, Chuzhanova Nadia A, Cooper David N

Abstract excerpt

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 osteoporosis. Whether this intronic SNP is itself the functional polymorphism responsible for exerting a direct effect...

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PMID: 20650818
DOI: 10.1186/1479-7364-4-5-289
PMCID: PMC3500161

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