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Giulia Brigante Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria, Modena, Italy

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Clara Lazzaretti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Elia Paradiso Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Federico Nuzzo Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Martina Sitti Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy

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Frank Tüttelmann Institute of Reproductive Genetics, University of Münster, Münster, Germany

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Gabriele Moretti Department of Biology, University of Pisa, Pisa, Italy

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Roberto Silvestri Department of Biology, University of Pisa, Pisa, Italy

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Federica Gemignani Department of Biology, University of Pisa, Pisa, Italy

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Asta Försti Hopp Children’s Cancer Center (KiTZ), Heidelberg, Germany
Division of Pediatric Neurooncology, German Cancer Research Center (DKFZ), German Cancer Consortium (DKTK), Heidelberg, Germany

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Kari Hemminki Biomedical Center, Faculty of Medicine and Biomedical Center in Pilsen, Charles University in Prague, Pilsen, Czech Republic
Division of Cancer Epidemiology, German Cancer Research Center (DKFZ), Heidelberg, Germany

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Rossella Elisei Department of Endocrinology, University Hospital, Pisa, Italy

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Cristina Romei Department of Endocrinology, University Hospital, Pisa, Italy

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Eric Adriano Zizzi PolitoBIO Med Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Italy

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Marco Agostino Deriu PolitoBIO Med Lab, Department of Mechanical and Aerospace Engineering, Politecnico di Torino, Italy

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Manuela Simoni Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Unit of Endocrinology, Department of Medical Specialties, Azienda Ospedaliero-Universitaria, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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Stefano Landi Department of Biology, University of Pisa, Pisa, Italy

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Livio Casarini Unit of Endocrinology, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy
Center for Genomic Research, University of Modena and Reggio Emilia, Modena, Italy

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alleles. In fact, one single common variant per se is weakly associated with increased DTC risk, which could instead emerge as a cumulative effect of several single nucleotide polymorphisms (SNPs) with individual low impact. Thus, the overall risk could

Article Type:
Research Article
Collections:
Genetics and omics in thyroidology
DOI:
https://doi.org/10.1530/ETJ-22-0058
Volume/Issue:
Volume 11: Issue 5
Open access
Allan Carlé Department of Endocrinology, Aalborg University Hospital, Aalborg, Denmark

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Jens Faber Department of Endocrinology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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Rudi Steffensen Department of Clinical Immunology, Aalborg University Hospital, Aalborg, Denmark

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Peter Laurberg Department of Endocrinology, Aalborg University Hospital, Aalborg, Denmark

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Birte Nygaard Department of Endocrinology, Herlev Hospital, University of Copenhagen, Copenhagen, Denmark
Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark

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had no preference. Single Nucleotide Polymorphism Genotyping All patients from the original study were re-invited to a blood test for genetic testing. Of those 59, 45 patients gave blood for single nucleotide polymorphism (SNP) genotyping

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000469709
Volume/Issue:
Volume 6: Issue 3
Free access
Tereza Planck Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden
Department of Endocrinology, Skåne University Hospital, Malmö, Sweden

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Bushra Shahida Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden

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Johan Malm Department of Translational Medicine, Section for Clinical Chemistry, Lund University, Malmö, Sweden

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Jonas Manjer Department of Clinical Sciences Malmö, Lund University, Malmö, Sweden
Department of Surgery, Skåne University Hospital, Malmö, Sweden

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D metabolism and their association with GD. Single nucleotide polymorphisms (SNPs) in the vitamin D receptor (VDR), GC – vitamin D binding protein (DBP), and 1-α-hydroxylase (CYP27B1) were examined for association with GD and/or Graves

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000484521
Volume/Issue:
Volume 7: Issue 1
Free access
Bushra Shahida Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, Malmö, Sweden

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Tereza Planck Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, Malmö, Sweden
Department of Diabetes and Endocrinology, Skåne University Hospital, Malmö, Sweden

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Peter Åsman Department of Clinical Sciences, Ophthalmology, Lund University, Malmö, Sweden
Department of Ophthalmology, Skåne University Hospital, Malmö, Sweden

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Mikael Lantz Department of Clinical Sciences, Diabetes and Endocrinology, Lund University, Malmö, Sweden
Department of Diabetes and Endocrinology, Skåne University Hospital, Malmö, Sweden

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controls. We speculated that a consequence of the decreased level of DIO2 in intraorbital tissues may be the limited local bioavailability of T3, thus promoting GO. In the present study, we hypothesize that single nucleotide polymorphisms (SNPs) in DIO2

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000490892
Volume/Issue:
Volume 7: Issue 6
Free access
Enrique Soto-Pedre Division of Population Health & Genomics, School of Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Moneeza K. Siddiqui Centre for Pharmacogenetics and Pharmacogenomics, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Ify Mordi Division of Molecular and Clinical Medicine, School of Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Cyrielle Maroteau Centre for Pharmacogenetics and Pharmacogenomics, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Jimena Soto-Hernaez School of Medicine, University of Bristol, Bristol, United Kingdom

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Colin N.A. Palmer Centre for Pharmacogenetics and Pharmacogenomics, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Ewan R. Pearson Division of Population Health & Genomics, School of Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Graham P. Leese Division of Population Health & Genomics, School of Medicine, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom
Department of Endocrinology and Diabetes, Ninewells Hospital & Medical School, University of Dundee, Dundee, United Kingdom

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Diego, CA, USA). Imputation was performed against 1000G Phase I V3 reference panel using Impute2 and using the haplotype reference consortium [ 11 ]; calls made with imputation quality below 90% were discarded. All single-nucleotide polymorphisms (SNPs

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000518058
Volume/Issue:
Volume 10: Issue 6
Open access
Aurore Geslot Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France

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Frédérique Savagner Laboratory of Biochemistry, CHU Purpan, Toulouse, France

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Philippe Caron Department of Endocrinology and metabolic diseases, CHU Larrey, Toulouse, France

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described by Schoenmakers et al. [ 5 , 12 ]. Sequences were analyzed on the ABI PRISM 3100 apparatus (Thermo Fisher). Extended analysis of single-nucleotide polymorphism (SNP) in the 19q13.32 region has been performed by the same sequencing method using

Article Type:
Case Report
Collections:
Hypothyroidism
DOI:
https://doi.org/10.1159/000518275
Volume/Issue:
Volume 10: Issue 6
Free access
Pei-Wen Wang Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine

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I-Ya Chen Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine

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Suh-Hang Hank Juo Department of Medical Research, Kaohsiung Medical University Hospital and Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan, ROC

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Edward Hsi Department of Medical Research, Kaohsiung Medical University Hospital and Graduate Institute of Medical Genetics, Kaohsiung Medical University, Kaohsiung, Taiwan, ROC

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Rue-Tsuan Liu Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine

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Ching-Jung Hsieh Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine

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GJ: Immunoregulatory and susceptibility genes in thyroid and polyglandular autoimmunity. Thyroid 2005;15:239–250. 10.1089/thy.2005.15.239 15785243 28 Tomer Y, Concepcion E, Greenberg DA: A C/T single-nucleotide polymorphism in the region of

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000342621
Volume/Issue:
Volume 1: Issue 4
Free access
Earn H. Gan Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom

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Anna L. Mitchell Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom

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Ruth Plummer Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom

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Simon Pearce Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom

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Petros Perros Institute of Genetic Medicine, International Centre for Life, Newcastle upon Tyne, United Kingdom

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, pancreatitis, and nephritis [ 6 ]. From an endocrine perspective, cases of lymphocytic hypophysitis, thyroiditis, and adrenalitis have been reported [ 6 , 7 ]. A single nucleotide polymorphism CT60A/G (rs3087243) in the 3′ untranslated region of human CTLA-4

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000464285
Volume/Issue:
Volume 6: Issue 3
Free access
Giulia Brigante Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Giorgia Spaggiari Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Daniele Santi Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Katia Cioni Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Valentina Gnarini Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Chiara Diazzi Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Elisa Pignatti Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Center of Genomic Research, University of Modena and Reggio Emilia

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Livio Casarini Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Center of Genomic Research, University of Modena and Reggio Emilia

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Marco Marino Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Center of Genomic Research, University of Modena and Reggio Emilia

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Frank Tüttelmann Institute of Human Genetics, University of Munster, Munster, Germany

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Cesare Carani Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Azienda USL, Modena, Italy

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Manuela Simoni Unit of Endocrinology and Metabolism, Department of Biomedical, Metabolic and Neural Sciences
Center of Genomic Research, University of Modena and Reggio Emilia
Azienda USL, Modena, Italy

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patients represent a good model to study determinants of hypothalamo-pituitary sensitivity (HPs) to LT 4 . Individual differences in LT 4 requirements could be justified by the presence of genetic variants, such as single nucleotide polymorphisms (SNPs

Article Type:
Research Article
DOI:
https://doi.org/10.1159/000358590
Volume/Issue:
Volume 3: Issue 2
Free access
Wilmar M. Wiersinga Department of Endocrinology and Metabolism

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Noortje I. Regensburg Orbital Center, Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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Maarten P. Mourits Orbital Center, Department of Ophthalmology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

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patients who are carriers of the single nucleotide polymorphism Pro12Ala in the PPARγ gene [ 44 ]. Finally, 11β-Hydroxysteroid dehydrogenase-1 activity of OF from orbital fat is greater in GO patients than in controls, due to induction by proinflammatory

Article Type:
Case Report
DOI:
https://doi.org/10.1159/000348246
Volume/Issue:
Volume 2: Issue 1
Free access