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- Title
SNPs in the Aryl Hydrocarbon Receptor Interacting Protein Gene with Sporadic Non-Functional Pituitary Adenoma.
- Authors
Yeshuai Hu; Jun Yang; Yongkai Chang; Shunchang Ma
- Abstract
Objective: Pituitary adenomas are common intracranial tumors reported in up to 15% of autopsied cases. Recently, mutations in the aryl hydrocarbon receptor interacting protein gene (AIP) were shown to cause a pituitary adenoma predisposition. A number of related researches on mutations in AIP have been continuously reported in pituitary adenoma worldwide. But mutations in AIP specifically for sporadic non-functional pituitary adenomas (NFPAs) have never been reported yet. The aim of the study was to identify AIP mutation with NFPAs. Design: Sequence of AIP with NFPAs and controls was screened. Materials and Methods: We examined peripheral blood and screened the entire coding sequence of AIP with NFPAs. 56 consecutive NFPAs and 56 controls were included in a prospective cohort designed to study genetic predisposition to pituitary adenoma. Results: 4 of these 56 NFPAs (7.1%) were identified as harboring three SNPs but no germline mutations in AIP. One SNP (c. 516 C > T) was identified in exon 4 in two patients and the base sequence was changed from C to T, indicating that the base sequence was of the C/T heterozygous genotype. Two different SNPs (c. 985 G > C; C.993G > C) were identified in exon 6 respectively in two patients and the base sequences were both changed from G to C, indicating that the base sequence was of the G/C heterozygous genotype. The former SNP (c. 985 G > C) was novel. No SNPs or germline mutations of AIP were identified in 56 controls. Conclusion: We inferred that AIP mutations or SNPs might not play an important role in NFPA. Further study of the molecular and genetic mechanisms of AIP acting on NFPA is necessary.
- Subjects
PITUITARY tumors; GENES; GENETICS; MAGNETIC resonance imaging; GENETIC mutation
- Publication
International Medical Journal, 2016, Vol 23, Issue 4, p379
- ISSN
1341-2051
- Publication type
Article