ArticleHuman genomics2010
Characterisation of a functional intronic polymorphism in the human growth hormone (GH1) gene.
Article in Human genomics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 48 citations in OpenAlex.
- GH1 T1663A polymorphism and cancer risk: a meta-analysis of case-control studies.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
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- Growth hormone deficiency in three siblings homozygous for a rareFrontiers in endocrinology · 2025Article
- Association of the Adipokines Chemerin, Apelin, Vaspin and Omentin and Their Functional Genetic Variants with Rheumatoid Arthritis.Journal of personalized medicine · 2021Article
- Differential Associations of SLCO Transporters with Prostate Cancer Aggressiveness between African Americans and European Americans.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2021Article
- The expression of NLK is functionally associated with colorectal cancers (CRC).Journal of Cancer · 2021Article
- Genetic polymorphisms in part of intron 7 and exon 8 of HSP90AA1 gene and its association with heat tolerance traits in two exotic layer chicken strains.Tropical animal health and production · 2020Article
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- Impact of matrix metalloproteinase-11 gene polymorphisms on development and clinicopathologcial variables of uterine cervical cancer in Taiwanese women.International journal of medical sciences · 2019Article
- The effect of polymorphism in theArchives animal breeding · 2019Article
- Functional intronic variant of SLC5A10 affects DRG2 expression and survival outcomes of early-stage non-small-cell lung cancer.Cancer science · 2018Article
- Effect of Myostatin SNP on muscle fiber properties in male Thoroughbred horses during training period.The journal of physiological sciences : JPS · 2018Article
- Natural variation in genes potentially involved in plant architecture and adaptation in switchgrass (Panicum virgatum L.).BMC evolutionary biology · 2018Article
- Single nucleotide polymorphisms and sporadic colorectal cancer susceptibility: a field synopsis and meta-analysis.Cancer cell international · 2018Article
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- Candidate gene based association mapping in Fusarium culmorum for field quantitative pathogenicity and mycotoxin production in wheat.BMC genetics · 2017Article
- A novel method for quantifying the rate of embryogenesis uncovers considerable genetic variation for the duration of embryonic development in Drosophila melanogaster.BMC evolutionary biology · 2016Article
- ENPP1 and ESR1 genotypes influence temporomandibular disorders development and surgical treatment response in dentofacial deformities.Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery · 2016Article
- Genome-wide DNA polymorphisms in low Phosphate tolerant and sensitive rice genotypes.Scientific reports · 2015Article
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Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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 on GH1 gene expression, however, or whether it is instead in linkage disequilibrium with the functional SNP, has been an open question. The evolutionary conservation of the +1169T allele (and the surrounding intronic sequence) in the bovine genome, as well as in primate genomes, is, however, suggestive of its functionality. Although a potential alternative splice site spans the location of the +1169 SNP, polymerase chain reaction-based assays failed to yield any evidence for alternative splicing associated with either allele. To determine whether the +1169 SNP, in different allelic combinations with SNPs at -278 (G/T), -57 (T/G) and +2103 (C/T), exerts a direct effect on gene expression and/or GH secretion, we performed a series of transfections of various GH1 haplotype-expressing constructs into rat GC (somatotroph) cells. The results obtained provided evidence to support the contention that the +1169A allele contributes directly to the observed reduction in both GH1 gene expression and GH secretion. Part of the apparent influence of the +1169A-bearing allele on GH1 gene expression and GH secretion may still, however, be attributable to alleles of additional SNPs in cis to +1169A and located within either the promoter or the 3'-flanking region.
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