: Autonomous aldosterone overproduction represents the underlying condition of 5-10% of patients with arterial hypertension and carries a significant burden of mortality and morbidity. The diagnostic algorithm for primary aldosteronism is sequentially based on hormonal tests (screening and confirmation tests), followed by lateralization studies (adrenal CT scanning and adrenal venous sampling) to distinguish between unilateral and bilateral disease. Despite the recommendations of the Endocrine Society guideline, primary aldosteronism is largely underdiagnosed and undertreated with high between-centre heterogeneity. Experts from the European Society of Hypertension have critically reviewed the available literature and prepared a consensus document constituting two articles to summarize current knowledge on the epidemiology, diagnosis, treatment, and complications of primary aldosteronism.

• MeSH
• aldosteron krev   MeSH
• hyperaldosteronismus * diagnóza   epidemiologie   genetika   MeSH
• hypertenze MeSH
• konsensus MeSH
• lidé MeSH
• prevalence MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH

The CDKN2A (p16) gene plays a key role in pancreatic cancer etiology. It is one of the most commonly somatically mutated genes in pancreatic cancer, rare germline mutations have been found to be associated with increased risk of developing familiar pancreatic cancer and CDKN2A promoter hyper-methylation has been suggested to play a critical role both in pancreatic cancer onset and prognosis. In addition several unrelated SNPs in the 9p21.3 region, that includes the CDNK2A, CDNK2B and the CDNK2B-AS1 genes, are associated with the development of cancer in various organs. However, association between the common genetic variability in this region and pancreatic cancer risk is not clearly understood. We sought to fill this gap in a case-control study genotyping 13 single nucleotide polymorphisms (SNPs) in 2,857 pancreatic ductal adenocarcinoma (PDAC) patients and 6,111 controls in the context of the Pancreatic Disease Research (PANDoRA) consortium. We found that the A allele of the rs3217992 SNP was associated with an increased pancreatic cancer risk (ORhet=1.14, 95% CI 1.01-1.27, p=0.026, ORhom=1.30, 95% CI 1.12-1.51, p=0.00049). This pleiotropic variant is reported to be a mir-SNP that, by changing the binding site of one or more miRNAs, could influence the normal cell cycle progression and in turn increase PDAC risk. In conclusion, we observed a novel association in a pleiotropic region that has been found to be of key relevance in the susceptibility to various types of cancer and diabetes suggesting that the CDKN2A/B locus could represent a genetic link between diabetes and pancreatic cancer risk.

• MeSH
• alely MeSH
• Asijci MeSH
• běloši MeSH
• duktální karcinom pankreatu genetika   MeSH
• genetická predispozice k nemoci MeSH
• genotyp MeSH
• inhibitor p15 cyklin-dependentní kinasy genetika   MeSH
• inhibitor p18 cyklin-dependentní kinasy genetika   MeSH
• jednonukleotidový polymorfismus * MeSH
• lidé MeSH
• metylace DNA MeSH
• mezinárodní spolupráce MeSH
• nádory slinivky břišní diagnóza   etnologie   genetika   MeSH
• odds ratio MeSH
• prognóza MeSH
• progrese nemoci MeSH
• retrospektivní studie MeSH
• studie případů a kontrol MeSH
• vazebná místa MeSH
• zárodečné mutace MeSH
• Check Tag
• lidé MeSH
• Publikační typ
• časopisecké články MeSH
• Geografické názvy
• Japonsko MeSH