Genetics Research
rs2230350
Population Frequencies11
African
G 0.99261A 0.00739GG 0.985462GA/AG 0.014305AA 0.000233pop=25,726
African American
G 0.99244A 0.00756GG 0.985125GA/AG 0.014634AA 0.000241pop=24,874
African Others
G 0.998A 0.002GG 0.995305GA/AG 0.004695AA 0pop=852
Asian
G 0.9992A 0.0008GG 0.998475GA/AG 0.001525AA 0pop=9,182
European
G 0.968351A 0.031649GG 0.937596GA/AG 0.06151AA 0.000894pop=241,490
Latin American 1
G 0.9803A 0.0197GG 0.96159GA/AG 0.037517AA 0.000893pop=4,478
Latin American 2
G 0.982A 0.018GG 0.964135GA/AG 0.035643AA 0.000221pop=9,034
Other
G 0.97503A 0.02497GG 0.950497GA/AG 0.049056AA 0.000447pop=17,898
Other Asian
G 0.9961A 0.0039GG 0.992152GA/AG 0.007848AA 0pop=1,784
South Asian
G 0.9956A 0.0044GG 0.991228GA/AG 0.008772AA 0pop=1,140
Studies3
Unread Studies3 ▼
1
… Also in GNAI3, only previously observed heterozygous synonymous variations were detected in exon 1 (rs2230350/3 samples) and exon 8 (rs61758987/1 sample). None of these …
2
Pituitary adenomas are neoplasms of the anterior pituitary lobe and account for 15–20% of all intracranial tumors. Although most pituitary tumors are benign they can cause severe symptoms related to tumor size as well as hypopituitarism and/or hypersecretion of one or more pituitary hormones. Most pituitary adenomas are sporadic, but it has been estimated that 5% of patients have a familial background. Germline mutations of the tumor suppressor gene aryl hydrocarbon receptorinteracting protein (AIP) predispose to hereditary pituitary neoplasia. Recently, it has been demonstrated that AIP mutations predispose to pituitary tumorigenesis through defective inhibitory GTP binding protein (Gai ) signaling. This finding prompted us to examine whether germline loss-of-function mutations in inhibitory guanine nucleotide (GTP) binding protein alpha (GNAI) loci are involved in genetic predisposition of pituitary tumors. To our knowledge, this is the first time GNAI genes are sequenced in order to examine the occurrence of inactivating germline mutations. Thus far, only somatic gain-offunction hot-spot mutations have been studied in these loci. Here, we have analyzed the coding regions of GNAI1, GNAI2, and GNAI3 in a set of young sporadic somatotropinoma patients (n = 32; mean age of diagnosis 32 years) and familial index cases (n = 14), thus in patients with a disease phenotype similar to that observed in AIP mutation carriers. In addition, expression of Gai proteins was studied in human growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH)-secreting and non-functional pituitary tumors. No pathogenic germline mutations affecting the Gai proteins were detected. The result suggests that loss-of-function mutations of GNAI loci are rare or nonexistent in familial pituitary adenomas.
3
Pituitary adenomas are neoplasms of the anterior pituitary lobe and account for 15-20% of all intracranial tumors. Although most pituitary tumors are benign they can cause severe symptoms related to tumor size as well as hypopituitarism and/or hypersecretion of one or more pituitary hormones. Most pituitary adenomas are sporadic, but it has been estimated that 5% of patients have a familial background. Germline mutations of the tumor suppressor gene aryl hydrocarbon receptor-interacting protein (AIP) predispose to hereditary pituitary neoplasia. Recently, it has been demonstrated that AIP mutations predispose to pituitary tumorigenesis through defective inhibitory GTP binding protein (Gαi) signaling. This finding prompted us to examine whether germline loss-of-function mutations in inhibitory guanine nucleotide (GTP) binding protein alpha (GNAI) loci are involved in genetic predisposition of pituitary tumors. To our knowledge, this is the first time GNAI genes are sequenced in order to examine the occurrence of inactivating germline mutations. Thus far, only somatic gain-of-function hot-spot mutations have been studied in these loci. Here, we have analyzed the coding regions of GNAI1, GNAI2, and GNAI3 in a set of young sporadic somatotropinoma patients (n = 32; mean age of diagnosis 32 years) and familial index cases (n = 14), thus in patients with a disease phenotype similar to that observed in AIP mutation carriers. In addition, expression of Gαi proteins was studied in human growth hormone (GH), prolactin (PRL), adrenocorticotropic hormone (ACTH)-secreting and non-functional pituitary tumors. No pathogenic germline mutations affecting the Gαi proteins were detected. The result suggests that loss-of-function mutations of GNAI loci are rare or nonexistent in familial pituitary adenomas.
Curated Studies0 ▼
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Unused Studies0 ▼
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