A Common Variant in the CDK8 Gene Is Associated with Sporadic Pituitary Adenomas in the Portuguese Population: A Case-Control Study.

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.

[Adipose tissue and adipokines]. / Tecido adiposo e adipocinas.

Adipose tissue is an organ with an endocrine function among others. Adipokines there produced have several roles and can be, according to their main function, grouped in our groups: immunologic, cardiovascular, metabolic and endocrine adipokines. Interleukin-6, tumour necrosis factor a and complement factors B, C3 and D (adipsin) and are within the first group. Adipsin was the one of the first adipokines identified. Ali this molecules have well defined roles in inflammation. It is well known the association between obesity and cardiovascular risk, which is demonstrated by the improvement of cardiovascular risk factors associated with weight loss. Among the adipokines with cardiovascular main function the renin--angiotensin axis molecules and plasminogen activator inhibitor--I will be highlighted. Metabolic function is attributed to molecules taught to have a role in energy homeostasis. Adipose tissue is mainly involved in lipid and glucose metabolism. Free fatty acids, adiponectin, resistin, agouti related peptide and visfatin are molecules involved in those metabolic pathways. Leptin is the paradigm of the adipose tissue endocrine function. It is almost exclusively produced by the adipocyte and it has a central role in energy storage regulation and fertility. Steroid inter-conversion also occurs in adipose tissue. Although knowledge regarding these molecules, their function and relations with other systems has increased lately; more studies are necessary in order to clarify mechanisms and clinical applications. Only that way it will be possible to effectively correct the obesity associated metabolic dysfunction and decrease the morbidity and mortality obesity related.