ArticleEndocrine2016
Analysis of GPR101 and AIP genes mutations in acromegaly: a multicentric study.
Article in Endocrine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 30 citations in OpenAlex.
- Clinical Relevance of Genetic Analysis in Patients With Pituitary Adenomas: A Systematic Review.Frontiers in endocrinology · 2019Pooled it
- Article
- Drug resistance in pituitary tumours: from cell membrane to intracellular signalling.Nature reviews. Endocrinology · 2021Review
- The clinical aspects of pituitary tumour genetics.Endocrine · 2021Review
- Novel Insights into Pituitary Tumorigenesis: Genetic and Epigenetic Mechanisms.Endocrine reviews · 2020Review
- GSTP1 gene methylation and AHR rs2066853 variant predict resistance to first generation somatostatin analogs in patients with acromegaly.Journal of endocrinological investigation · 2019Observational
- The causes and consequences of pituitary gigantism.Nature reviews. Endocrinology · 2018Review
- Article
- Frequency of familial pituitary adenoma syndromes among patients with functioning pituitary adenomas in a reference outpatient clinic.Journal of endocrinological investigation · 2017Article
- The genetic background of acromegaly.Pituitary · 2017Review
- Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study.Acta neuropathologica communications · 2016Article
- Genetics of gigantism and acromegaly.Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research SocietyReview
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Authors and funding
11 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
This multicentric study aimed to investigate the prevalence of the G protein-coupled receptor 101 (GPR101) p.E308D variant and aryl hydrocarbon receptor interacting protein (AIP) gene mutations in a representative cohort of Italian patients with acromegaly. 215 patients with GH-secreting pituitary adenomas, referred to 4 Italian referral centres for pituitary diseases, have been included. Three cases of gigantism were present. Five cases were classified as FIPA. All the patients have been screened for germline AIP gene mutations and GPR101 gene p.E308D variant. Heterozygous AIP gene variants have been found in 7 patients (3.2 %). Five patients carried an AIP mutation (2.3 %; 4 females): 3 patients harboured the p.R3O4Q mutation, one had the p.R304* mutation and the last one the IVS3+1G>A mutation. The prevalence of AIP mutations was 3.3 % and 2.8 % when considering only the patients diagnosed when they were <30 or <40-year old, respectively. Furthermore, 2.0 % of the patients with a pituitary macroadenoma and 4.2 % of patients resistant to somatostatin analogues treatment were found to harbour an AIP gene mutation. None of the patients was found to carry the GPR101 p.E308D variant. The prevalence of AIP gene mutations among our sporadic and familial acromegaly cases was similar to that one reported in previous studies, but lower when considering only the cases diagnosed before 40 years of age. The GPR101 p.E308D change is unlikely to have a role in somatotroph adenomas tumorigenesis, since none of our sporadic or familial patients tested positive for this variant.
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