Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

Gao, Ming; Zhu, Bin; Xu, Zhe; Liu, Shujun; Liu, Jiajia; Zhang, Guojun; Gao, Yang; Fan, Yubo; Kang, Xiaojian

doi:10.1186/s12881-018-0698-2

Cited by 10 publications

(9 citation statements)

References 25 publications

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“…Although previous databases included mostly western populations, only East Asians were analyzed in this study 11 , 15 , 16 . In several studies, ethnic differences were significantly associated with clinical manifestations and genetics of GH-secreting pituitary adenoma 17 – 19 . Furthermore, we analyzed pure GH-secreting pituitary adenomas without GNAS variant rather than general sporadic cases.…”

Section: Discussionmentioning

confidence: 99%

Novel somatic variants involved in biochemical activity of pure growth hormone-secreting pituitary adenoma without GNAS variant

Lim

Lee

et al. 2021

Sci Rep

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We aimed to identify somatic genetic alterations in pure growth hormone (GH)-secreting pituitary adenomas without GNAS variants. Patients with GH-secreting pituitary adenoma who underwent transsphenoidal adenomectomy at Severance Hospital, Yonsei University College of Medicine were recruited. Somatic genetic alterations were profiled by whole-exome sequencing (WES) and targeted resequencing. WES was performed using DNA from nine GH-secreting pituitary tumors and corresponding blood samples. Absence of GNAS variant was confirmed by Sanger sequencing. For targeted resequencing of 140 fixed tissues, 48 WES-derived candidate genes and 7 GH-secreting pituitary adenoma-associated genes were included. Forty-eight genes with 59 somatic variants were identified by WES. In targeted resequencing, variants in 26 recurrent genes, including MAST4, PRIM2, TNN, STARD9, DNAH11, DOCK4, GPR98, BCHE, DARS, CUBN, NGDN, PLXND1, UNC5B, and COL22A1, were identified, but variants in previously reported genes were not detected. BCHE, DARS, NGDN, and UNC5B variants were associated with increased GH-secreting pituitary tumor biochemical activity, which was confirmed in vitro. Although recurrent point variants were rare, several somatic variants were identified in sporadic pure GH-secreting pituitary adenomas. Several somatic variants may affect pathways involved in the tumorigenesis and biochemical activities of GH-secreting pituitary adenomas.

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Section: Discussionmentioning

confidence: 99%

Novel somatic variants involved in biochemical activity of pure growth hormone-secreting pituitary adenoma without GNAS variant

Lim

Lee

et al. 2021

Sci Rep

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“…Гормонально активні пухлини (аденоми) гіпофіза, клінічними проявами яких є синдром акромегалії, за даними різних авторів, трапляються відносно нечасто і належать до класу орфанних захворювань [1][2][3]. Розвиток пухлини -це складний багатоетапний процес, на який впливають генетичні, епігенетичні фак-тори та чинники довкілля, а також стан центральної нервової системи та мікрооточення пухлини [4][5][6][7]. У більшості випадків моноклональні пухлини гіпофіза, що продукують соматотропний гормон (СТГ), виникають de novo в результаті спорадичних мутацій, а саме генетичних порушень у різних генах, включаючи AIP (aryl hydrocarbon receptor interacting protein), GNAS © 2021.…”

Section: вступunclassified

Сучасні Погляди На Генетичну Детермінованість Стг-Секретуючих Аденом Гіпофіза (Огляд Літератури Та Власні Дослідження)

Nikolaiev¹,

Rostomyan

Beckers

et al. 2021

Mìžnarodnij endokrinologìčnij žurnal

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Background. This article presents a review of the current literature on the role of the genetic component in the etiology and pathogenesis of hormone-active pituitary adenomas secreting growth hormone (GH) and clinically manifesting by acromegaly and/or gigantism (multiple endocrine neoplasia 1 (MEN-1), McCune-Albright syndrome, Carney complex, X-linked acrogigantism (X-LAG), familial isolated pituitary adenoma — FIPA). Materials and methods. To identify mutations in the AIP gene and to verify FIPA, 26 patients of the Ukrainian population (19 women and 7 men) were examined in whom acromegaly was diagnosed in adolescence or young age, and genetic analysis was performed. To determine the genetic determinism in the development of GH-secreting pituitary adenoma and differential diagnosis of FIPA and MEN-1 syndromes by sequencing method (MLPA — ligation-dependent probe amplification), the genes MLPA, P244-C1 were studied involving exons 1–6 MEN1 gene, (MLPA, P017-D1) AIP gene. Results. Among those examined, only two patients had AIP gene mutations. In one patient, genetic screening for MEN1 gene mutation was negative and no clinical symptoms suggestive of McCune-Albright syndrome were detected. A variant heterozygous missense c.714C>G (p.Cys238Trp) was found in the AIP gene. This AIP gene assay is compatible with a genetic predisposition to develop pituitary adenoma. The offspring of this patient has a 50% chance of inheriting this variant, acromegaly, hypersomatotropinemia, MEN-1 syndrome, familial isolated pituitary adenoma. Another patient was diagnosed with MEN syndrome type 1 (Wermer syndrome): insulinoma, parathyroid gland adenomas (2), primary hyperparathyroidism with a heterozygous c.134A>G variant (p.Glu45Gly) found in the MEN1 gene. The presence of the c.l34A>G (p.Glu45Gly) class variant 4 is likely to be pathogenic. The prevalence of this variant in the general population is unknown, so it is very rare. Conclusions. The genetic analysis is appropriate in pediatric and young patients or those with GH-secreting macro/giant pituitary adenoma diagnosed at a young age (under 35), regardless of family history. In patients with a history of a disease, genetic analysis is recommended in any case to identify FIPA and to predict the further course of the disease and the effectiveness of treatment with somatostatin analogues.

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“…We identi ed 30299 mRNAs in all assemble transcripts. Comparing between the two groups, 780 differential expressed mRNAs were identi ed in which 319 were upregulated and 461 were downregulated signi cantly (P value < 0.05) (Table 1).Then, combining NCBI literature and gene information retrieval, we found that ADGRG1 and IGFBP3 were possibly related NF1with scoliosis [17,19,[22][23][24][25][26][27][28]. Our Further analysis of clinical samples showed that the expressions of ADGRG1 and IGFBP3 both in gene and protein levels were signi cantly decreased in NF1 with scoliosis group than that in the control group(P < 0.001) (Fig.…”

Section: Adgrg1 and Igfbp3 Differential Expressed Between Nf-1 With Smentioning

confidence: 99%

The Role of GPR56 in Neurofibromatosis type 1 Secondary to Scoliosis

Cai¹,

Yang²,

Jia³

et al. 2020

Preprint

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Background: Scoliosis is a common manifestation of neurofibromatosis type 1, causing significant morbidity. The etiology of dystrophic scoliosis in neurofibromatosis type 1(NF1) is not fully understood and its therapies are lacking. This article focused on how GPR56 affected the development of NF1 cells and the related factors of osteoblast and osteoclast. Methods: Through RNA-sequencing, G-protein-coupled receptor (GPR56) was found highly differential expressed in the NF1 with scoliosis samples. We measured the GPR56 how affected the NF1 cells in vitro. Then we tested the influence of GPR56 in osteoclasts and osteoblasts. Results: We reported that knockdown GPR56 promoted the proliferation and cell cycle progression of NF1 cell. Furthermore, knockdown GPR56 can inhibited the osteoblastic differentiation and osteoclast formation, but had greater influence on osteoblastic differentiation, which indicated that knockdown GPR56 can promote the deterioration of NF1 tumors, meanwhile break the dynamic balance of bone formation and bone absorption, leading to increased bone resorption and eventually scoliosis. Conclusions: In conclusion, we found that GPR56 may inhibit the proliferation and cell cycle progression of NF1. Furthermore, GPR56 can promote osteoblastic differentiation and osteoclast formation, but had greater influence on osteoblastic differentiation, which indicated that knockdown GPR56 can promote the deterioration of NF1 tumors, meanwhile break the dynamic balance of bone formation and bone absorption, leading to increased bone resorption.

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Association between acromegaly and a single nucleotide polymorphism (rs2854744) in the IGFBP3 gene

Cited by 10 publications

References 25 publications

Novel somatic variants involved in biochemical activity of pure growth hormone-secreting pituitary adenoma without GNAS variant

Novel somatic variants involved in biochemical activity of pure growth hormone-secreting pituitary adenoma without GNAS variant

Сучасні Погляди На Генетичну Детермінованість Стг-Секретуючих Аденом Гіпофіза (Огляд Літератури Та Власні Дослідження)

The Role of GPR56 in Neurofibromatosis type 1 Secondary to Scoliosis

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