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Weiwei He Department of Endocrinology, Affiliated Hospital of Yanan Medical University, Shaanxi, China

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Bin Wang Department of Endocrinology, Jinshan Hospital of Fudan University, Shanghai, China

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Kaida Mu Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Jing Zhang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Yanping Yang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Wei Yao Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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Sheli Li Department of Endocrinology, Affiliated Hospital of Yanan Medical University, Shaanxi, China

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Jin-an Zhang Department of Endocrinology, Shanghai University of Medicine & Health Sciences Affiliated Zhoupu Hospital, Shanghai, China

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M. Association of single nucleotide polymorphisms in the IL27 gene with rheumatoid arthritis . Scandinavian Journal of Immunology 2014 80 298 – 305 . ( https://doi.org/10.1111/sji.12209 ) 10.1111/sji.12209 25041531 18 Dehghanzadeh R

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-18-0370
Volume/Issue:
Volume 8: Issue 3
Open access
Susana Pastor Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Abdelmounaim Akdi Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Eddy R González Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Juan Castell Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Josefina Biarnés Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Ricard Marcos Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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Antonia Velázquez Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain
Grup de Mutagènesi, CIBER Epidemiología y Salud Pública, Servei de Medicina Nuclear, Unidad de Endocrinología, Departament de Genètica i de Microbiologia, Facultat de Biociències, Universitat Autònoma de Barcelona, 08193 Cerdanyola del Vallès, Barcelona, Spain

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consent. The study was approved by the ethics committees of all the institutions involved. Single nucleotide polymorphisms selection THRA and THRB and TSHR receptors are critical for the function of the thyroid gland via the pituitary–thyroid axis (see

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-12-0017
Volume/Issue:
Volume 1: Issue 2
Open access
Lizhi Zhang Department of Endocrinology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China
Department of Endocrinology, Jiading Branch of Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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Jinwei He Department of Osteoporosis and Bone Disease, Shanghai Jiao Tong University Affiliated Sixth People’s Hospital, Shanghai, China

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Xiang Sun Shanghai Institute of Technology, Shanghai, China

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Dongyue Pang Department of Endocrinology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China

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Jingjing Hu Department of Endocrinology, Shanghai East Hospital, Tongji University School of Medicine, Shanghai, China

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Bo Feng Department of Endocrinology, Jiading Branch of Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China

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osteoporosis. Furthermore, phenotypic differences in the human body and susceptibility to drugs or diseases may be related to single-nucleotide polymorphisms (SNPs). There are 13 SNPs in GIPR . Among them, rs10423928 has been studied extensively. It involves

Article Type:
Research Article
Collections:
Bone and Mineral Metabolism
DOI:
https://doi.org/10.1530/EC-21-0583
Volume/Issue:
Volume 11: Issue 2
Open access
Kelly Brewer Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut, USA

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Isabel Nip Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut, USA

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Justin Bellizzi Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut, USA

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Jessica Costa-Guda Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut, USA
Center for Regenerative Medicine and Skeletal Development, Department of Reconstructive Sciences, University of Connecticut School of Dental Medicine, Farmington, Connecticut, USA

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Andrew Arnold Center for Molecular Oncology, University of Connecticut School of Medicine, Farmington, Connecticut, USA
Division of Endocrinology and Metabolism, University of Connecticut School of Medicine, Farmington, Connecticut, USA

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heterozygous single nucleotide polymorphisms (SNPs) among 35 patients, all of which are previously documented SNPs found in the germline at the population level ( 33 ). Two of the SNPs (rs9456711 and rs144340740) were synonymous nucleotide substitutions and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-21-0055
Volume/Issue:
Volume 10: Issue 3
Open access
K L Gatford School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G K Heinemann School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S D Thompson School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J V Zhang School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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S Buckberry School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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J A Owens School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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G A Dekker School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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C T Roberts School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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on behalf of the SCOPE Consortium School of Paediatrics and Reproductive Health, Robinson Research Institute, University of Adelaide, Adelaide, South Australia 5005, Australia

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variation also impacts the IGF axis and circulating IGF1 and IGF2 differ between individuals according to their genotype at single-nucleotide polymorphisms (SNPs) in the genes for IGF1 , IGF2 and the IGF1 receptor ( IGF1R ). Within the IGF1 locus, rs

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-14-0068
Volume/Issue:
Volume 3: Issue 3
Open access
Kirsty G Pringle School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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Sarah J Delforce School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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Yu Wang School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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Katie A Ashton School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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Anthony Proietto Hunter Centre for Gynaecological Cancer, John Hunter Hospital, Newcastle, New South Wales, Australia

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Geoffrey Otton Hunter Centre for Gynaecological Cancer, John Hunter Hospital, Newcastle, New South Wales, Australia

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C Caroline Blackwell School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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Rodney J Scott School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia
Division of Molecular Medicine, Pathology North, Newcastle, New South Wales, Australia

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Eugenie R Lumbers School of Biomedical Sciences and Pharmacy, University of Newcastle, Callaghan, New South Wales, Australia

Hunter Medical Research Institute, New Lambton, Newcastle, New South Wales, Australia

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can often be attributed to single nucleotide polymorphisms (SNPs) in RAS genes. In this study, we measured the prevalence of five polymorphisms in RAS genes in Australian women with EC and in healthy controls. These polymorphisms were AGT (rs699

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-15-0112
Volume/Issue:
Volume 5: Issue 3
Open access
Marco Marino Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Valentina Cirello Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Valentina Gnarini Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Carla Colombo Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Elisa Pignatti Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Livio Casarini Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Chiara Diazzi Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Vincenzo Rochira Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Katia Cioni Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Bruno Madeo Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Cesare Carani Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Manuela Simoni Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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Laura Fugazzola Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy
Unit and Chair of Endocrinology and Metabolism, Center for Genomic Research, Department of Clinical Sciences and Community Health, Endocrine Unit, Azienda USL of Modena, NOCSAE, Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Via Pietro Giardini 1355, 41126 Modena, Italy

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unaffected tissue of the thyroid gland (4) . In particular, two studies have shown the association between pre-miR-146a rs2910164 and PTC, evaluating the impact of this single-nucleotide polymorphism (SNP) on the regulation of target mRNAs (5, 6) . As a

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-13-0066
Volume/Issue:
Volume 2: Issue 4
Open access
Yao Chen Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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Shu-ying Fang Hangzhou Fuyang Women and Children Hospital, Hangzhou, China

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-restriction fragment length polymorphism (PCR-RFLP) method in 45 PCOS women and 80 controls. No relationships between most single nucleotide polymorphisms (SNPs) of the StAR gene with PCOS were evident ( 18 ). The authors suggested that further evaluation of changes in

Article Type:
Review Article
DOI:
https://doi.org/10.1530/EC-18-0121
Volume/Issue:
Volume 7: Issue 5
Open access
Kathrin Zopf Department of Endocrinology, Diabetes and Nutrition, Charité – Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Kathrin R Frey Department of Medicine I, Endocrine and Diabetes Unit, University Hospital, University of Würzburg, Würzburg, Germany

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Tina Kienitz Department of Endocrinology, Diabetes and Nutrition, Charité – Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Manfred Ventz Department of Endocrinology, Diabetes and Nutrition, Charité – Universitätsmedizin Berlin, Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany

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Britta Bauer Endocrinology in Charlottenburg, Berlin, Germany

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Marcus Quinkler Endocrinology in Charlottenburg, Berlin, Germany

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. The Bcl I single nucleotide polymorphism (SNP) (C > G) is known to increase glucocorticoid sensitivity ( 1 , 2 , 3 ). This GR polymorphism works as part of a conserved haplotype and has repeatedly been associated with mood disorders and

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-17-0269
Volume/Issue:
Volume 6: Issue 8
Open access
Anastasia K Armeni Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Konstantinos Assimakopoulos Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Dimitra Marioli Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Vassiliki Koika Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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Euthychia Michaelidou Department of Biology, University of Patras, Patras, Greece

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Niki Mourtzi Department of Biology, University of Patras, Patras, Greece

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Gregoris Iconomou Department of Psychiatry, University of Patras Medical School, Patras, Greece

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Neoklis A Georgopoulos Division of Reproductive Endocrinology, Department of Obstetrics and Gynaecology, University of Patras Medical School, Patras, Greece

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sensitivity ( 8 ). Estrogens binding to estrogen receptors (ERA or ERB) activate estrogen-responsive genes and stimulate ER-positive cell lines. Although single-nucleotide polymorphisms (SNPs) of ERB gene (rs1271572, rs4986938 and rs928554) have been

Article Type:
Research Article
DOI:
https://doi.org/10.1530/EC-16-0090
Volume/Issue:
Volume 6: Issue 1
Open access