Searchable abstracts of presentations at key conferences in endocrinology

ea0022p26 | Adrenal | ECE2010

Confirmation of vitamin D receptor polymorphism TaqI and detection of a new single nucleotide polymorphism (SNP) in the CTLA4-region (CTLA4-CT60) as susceptibility markers for Addison's disease

Meyer Gesine , Ramos-Lopez Elizabeth , Penna-Martinez Marissa , Kahles Heinrich , Willenberg Holger , Badenhoop Klaus

Objective: Addison’s disease (AD) is a rare and complex endocrine disorder. Genetic susceptibility loci known so far are predominantly shared with other, more frequent autoimmune endocrinopathies. We therefore investigated polymorphisms of the CTLA4-region, the vitamin D system (vitamin D receptor VDR, CYP24 and CYP27B1 gene) as well as cytokine CXCL10 gene for their association in AD.Methods: Patients with AD (n=203) and healthy controls (<i...

ea0016p165 | Comparative endocrinology | ECE2008

Chemokine CXCL10 gene polymorphisms in Addison's disease

Sadet Dilek , Penna-Martinez Marissa , Kurylowicz Alina , Paunkovic Jane , Kahles Heinrich , Bruck Patrick , Badenhoop Klaus , Ramos-Lopez Elizabeth

Background and aims: CXC chemokine ligand 10 (CXCL10) also known as chemokine interferon γ inducible protein (IP-10) is a CXCR3 chemokine belongs to a group of structurally related molecules, that induce the chemotaxis of diverse leukocyte subtypes including activated T-helper 1 lymphocytes, natural killer cells and monocytes. In patients with Hashimoto’s thyroiditis, type 1 diabetes mellitus and Graves’ disease high levels of CXCL10 ligand in serum have been fo...

ea0016p307 | Endocrine tumours | ECE2008

VDR gene polymorphisms in patients with differentiated thyroid cancer

Penna-Martinez Marissa , Stern Julienne , Kahles Heinrich , Reusch Jurgen , Hinsch Nora , Hansmann Martin-Leo , Selkinski Ivan , Grunwald Frank , Wahl Robert , Holzer Katharina , Ramos-Lopez Elizabeth , Badenhoop Klaus

Background/aim: Vitamin D receptor (VDR) expression has been shown to be upregulated in several tumors and is thought to represent an important endogenous response to tumor progression. Therefore, in order to evaluate the role of VDR-gene and of the 25(OH)-Vitamin D3 in thyroid cancer we analysed four polymorphisms in patients with thyroid cancer and healthy controls.Patients and methods: Patients (n=136; 84 females and 52 males) with d...

ea0022p381 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

CYP24A1 haplotypes are associated with differentiated thyroid carcinoma

Penna-Martinez Marissa , Ramos-Lopez Elizabeth , Stern Julienne , Kahles Heinrich , Hinsch Nora , Hansmann Martin-Leo , Selkinski Ivan , Grunwald Frank , Vorlander Christian , Wahl Robert A , Bechstein Wolf O , Zeuzem Stefan , Holzer Katharina , Badenhoop Klaus

Background: Previously, we reported an association of vitamin D receptor (VDR) polymorphisms and differentiated thyroid cancer (DTC) risk. The aim of the present study was to investigate other vitamin D pathway genes such as CYP27B1, CYP2R1 and CYP24A1 which code for enzymes that, respectively, synthesize and degrade 1,25(OH)2D3 in patients with DTC and healthy controls (HC). Also its influence on 25(OH)D3 and 1,25(OH)2D3 ...