A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: a Case-Control Study
| Autor: | Leonor M. Gaspar, Catarina I. Gonçalves, Fernando Fonseca, Davide Carvalho, Luísa Cortez, Ana Palha, Inês F. Barros, Ema Nobre, João S. Duarte, Cláudia Amaral, Maria J. Bugalho, Olinda Marques, Bernardo D. Pereira, Manuel C. Lemos |
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| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
pituitary adenoma
NEBL nebulette PCDH15 protocadherin-related 15 CDK8 cyclin dependent kinase 8 SNP single nucleotide polymorphism genetic susceptibility Portugal Genotype Cyclin-Dependent Kinase 8* / genetics Organic Chemistry General Medicine Polymorphism Single Nucleotide Catalysis Computer Science Applications Inorganic Chemistry Case-Control Studies Humans Pituitary Neoplasms* / genetics Adenoma* / genetics Genetic Predisposition to Disease Physical and Theoretical Chemistry Molecular Biology HCC END Spectroscopy |
| Zdroj: | International Journal of Molecular Sciences; Volume 23; Issue 19; Pages: 11749 |
| Popis: | The majority of pituitary adenomas occur in a sporadic context, and in the absence of known genetic predisposition. Three common variants at the NEBL (rs2359536), PCDH15 (rs10763170) and CDK8 (rs17083838) loci were previously associated with sporadic pituitary adenomas in the Han Chinese population, but these findings have not yet been replicated in any other population. The aim of this case-control study was to assess if these variants are associated with susceptibility to sporadic pituitary adenomas in the Portuguese population. Genotype and allele frequencies were determined in 570 cases and in 546 controls. The CDK8 rs17083838 minor allele (A allele) was significantly associated with sporadic pituitary adenomas, under an additive (odds ratio (OR) 1.73, 95% confidence interval (CI) 1.19-2.50, p = 0.004) and dominant (OR 1.82, 95% CI 1.24-2.68, p = 0.002) inheritance model. The NEBL rs2359536 and PCDH15 rs10763170 variants were not associated with the overall risk for the disease, although a borderline significant association was observed between the PCDH15 rs10763170 minor allele (T allele) and somatotrophinomas (dominant model, OR 1.55, 95% CI 1.02-2.35, p = 0.035). These findings suggest that the CDK8 rs17083838 variant, and possibly the PCDH15 rs10763170 variant, may increase susceptibility to sporadic pituitary adenomas in the Portuguese population. info:eu-repo/semantics/publishedVersion |
| Databáze: | OpenAIRE |
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