دورية أكاديمية
أعرض في EDS

The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.

التفاصيل البيبلوغرافية
العنوان: The HLA-DQβ1 insertion is a strong achalasia risk factor and displays a geospatial north-south gradient among Europeans.
المؤلفون: Becker J; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Haas SL; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Mokrowiecka A; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Wasielica-Berger J; Department of Gastroenterology and Internal Diseases, Medical University of Bialystok, Bialystok, Poland., Ateeb Z; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Bister J; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Elbe P; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Kowalski M; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Gawron-Kiszka M; Department of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland., Majewski M; Second Department of General Surgery, Medical University of Lublin, Lublin, Poland., Mulak A; Department of Gastroenterology and Hepatology, Wroclaw Medical University, Wroclaw, Poland., Janiak M; Department of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland., Wouters MM; Translational Research Center for Gastrointestinal Disorders, Catholic University of Leuven, Leuven, Belgium., Schwämmle T; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Hess T; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Veits L; Institute of Pathology, Klinikum Bayreuth, Bayreuth, Germany., Niebisch S; Department of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany., Santiago JL; Department of Immunology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain., de León AR; Department of Gastroenterology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain., de la Serna JP; Department of Gastroenterology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain., Urcelay E; Department of Immunology, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain., Annese V; Department of Gastroenterology, Careggi Hospital, University of Florence, Florence, Italy., Latiano A; Department of Gastroenterology, IRCCS, Casa Sollievo della Sofferenza Hospital, San Giovanni Rotondo, Italy., Fumagalli U; Upper Gastrointestinal Surgery, Humanitas Clinical and Research Hospital, IRCCS, Milan, Italy., Rosati R; San Raffaele Hospital, San Raffaele Vita-Salute University, Milan, Italy., Laghi L; Department of Gastroenterology, Istituto Clinico Humanitas, IRCCS, Milan, Italy., Cuomo R; Division of Gastroenterology, Department of Clinical Medicine and Surgery, Federico II University Hospital School of Medicine, Naples, Italy., Lenze F; Department of Medicine B, University Hospital Münster, Münster, Germany., Sarnelli G; Division of Gastroenterology, Department of Clinical Medicine and Surgery, Federico II University Hospital School of Medicine, Naples, Italy., Müller M; Department of Gastroenterology, DKD Helios Clinic Wiesbaden, Wiesbaden, Germany., von Rahden BH; Department of General-, Visceral-, Vascular and Pediatric Surgery, University of Würzburg, Würzburg, Germany., Wijmenga C; University of Groningen, University Medical Centre Groningen, Department of Genetics, Groningen, The Netherlands., Lang H; Department of General, Visceral and Transplant Surgery, University Medical Center, University of Mainz, Mainz, Germany., Czene K; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., Hall P; Department of Medical Epidemiology and Biostatistics, Karolinska Institutet, Stockholm, Sweden., de Bakker PI; Department of Epidemiology, University Medical Center Utrecht, Utrecht, The Netherlands.; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Vieth M; Institute of Pathology, Klinikum Bayreuth, Bayreuth, Germany., Nöthen MM; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany., Schulz HG; Department of General and Abdominal Surgery, Protestant Hospital Castrop-Rauxel, Castrop-Rauxel, Germany., Adrych K; Department of Gastroenterology and Hepatology, Medical University of Gdansk, Gdansk, Poland., Gąsiorowska A; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Paradowski L; Department of Gastroenterology and Hepatology, Wroclaw Medical University, Wroclaw, Poland., Wallner G; Second Department of General Surgery, Medical University of Lublin, Lublin, Poland., Boeckxstaens GE; Translational Research Center for Gastrointestinal Disorders, Catholic University of Leuven, Leuven, Belgium., Gockel I; Department of Visceral, Transplant, Thoracic and Vascular Surgery, University Hospital of Leipzig, Leipzig, Germany., Hartleb M; Department of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland., Kostic S; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Dziurkowska-Marek A; Department of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland., Lindblad M; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Nilsson M; Center for Digestive Diseases, Karolinska University Hospital, Stockholm, Sweden., Knapp M; Institute for Medical Biometry, Informatics, and Epidemiology, University of Bonn, Bonn, Germany., Thorell A; Department of Clinical Sciences, Danderyds Hospital, Karolinska Institutet and Department of Surgery, Ersta Hospital, Stockholm, Sweden., Marek T; Department of Gastroenterology and Hepatology, Medical University of Silesia, Katowice, Poland., Dąbrowski A; Department of Gastroenterology and Internal Diseases, Medical University of Bialystok, Bialystok, Poland., Małecka-Panas E; Department of Digestive Tract Diseases, Medical University of Lodz, Lodz, Poland., Schumacher J; Institute of Human Genetics, University of Bonn, Bonn, Germany.; Department of Genomics, Life & Brain Center, University of Bonn, Bonn, Germany.
المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2016 Aug; Vol. 24 (8), pp. 1228-31. Date of Electronic Publication: 2016 Jan 06.
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
أسماء مطبوعة: Publication: <2003->: London : Nature Publishing Group
Original Publication: Basel ; New York : Karger, [1992-
مواضيع طبية MeSH: Mutagenesis, Insertional*, Esophageal Achalasia/*genetics , HLA-DQ beta-Chains/*genetics, Esophageal Achalasia/epidemiology ; Esophageal Achalasia/ethnology ; Europe ; Female ; Humans ; Male ; Mutation Rate ; Polymorphism, Genetic ; Prevalence ; White People/genetics
مستخلص: Idiopathic achalasia is a severe motility disorder of the esophagus and is characterized by a failure of the lower esophageal sphincter to relax due to a loss of neurons in the myenteric plexus. Most recently, we identified an eight-amino-acid insertion in the cytoplasmic tail of HLA-DQβ1 as strong achalasia risk factor in a sample set from Central Europe, Italy and Spain. Here, we tested whether the HLA-DQβ1 insertion also confers achalasia risk in the Polish and Swedish population. We could replicate the initial findings and the insertion shows strong achalasia association in both samples (Poland P=1.84 × 10(-04), Sweden P=7.44 × 10(-05)). Combining all five European data sets - Central Europe, Italy, Spain, Poland and Sweden - the insertion is achalasia associated with Pcombined=1.67 × 10(-35). In addition, we observe that the frequency of the insertion shows a geospatial north-south gradient. The insertion is less common in northern (around 6-7% in patients and 2% in controls from Sweden and Poland) compared with southern Europeans (~16% in patients and 8% in controls from Italy) and shows a stronger attributable risk in the southern European population. Our study provides evidence that the prevalence of achalasia may differ between populations.
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المشرفين على المادة: 0 (HLA-DQ beta-Chains)
0 (HLA-DQB1 antigen)
تواريخ الأحداث: Date Created: 20160107 Date Completed: 20170724 Latest Revision: 20221207
رمز التحديث: 20240513
مُعرف محوري في PubMed: PMC4970678
DOI: 10.1038/ejhg.2015.262
PMID: 26733285
قاعدة البيانات: MEDLINE
الوصف
تدمد:1476-5438
DOI:10.1038/ejhg.2015.262