A gene-wide investigation on polymorphisms in the taste receptor 2R14 (TAS2R14) and susceptibility to colorectal cancer |
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Authors: | Daniele Campa Pavel Vodicka Barbara Pardini Alessio Naccarati Maura Carrai Ludmila Vodickova Jan Novotny Kari Hemminki Asta Försti Roberto Barale Federico Canzian |
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Institution: | 1. College of Dentistry, Alkharj University, Alkharj, Kingdom of Saudi Arabia 3. College of Dentistry, King Saud University, Riyadh, Kingdom of Saudi Arabia 2. Commonwealth Scientific and Industrial Research Organisation (CSIRO) Food and Nutritional Sciences, Gate 13, Kintore Avenue, PO BOX 10041, 5000, Adelaide, SA, Australia 4. Department of Biosciences, Jamia Millia Islamia (A Central University), 110025, Jamia Nagar, New Delhi, India 5. Department of Obstetrics and Gynecology, Lok Nayak Jai Prakesh Hospital and Associates, Maulana Azad Medical College Campus, 110002, Bhadur Shah Zafar Marg, New Delhi, India 6. Department of Pathology, Erasmus MC - University Medical Center Rotterdam, Daniel den Hoed Cancer Center, Rotterdam, The Netherlands
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Abstract: | Background Obsessive-compulsive disorder (OCD) is a clinically and etiologically heterogeneous syndrome. The high frequency of obsessive-compulsive symptoms reported in subjects with the 22q11.2 deletion syndrome (DiGeorge/velocardiofacial syndrome) or Prader-Willi syndrome (15q11-13 deletion of the paternally derived chromosome), suggests that gene dosage effects in these chromosomal regions could increase risk for OCD. Therefore, the aim of this study was to search for microrearrangements in these two regions in OCD patients. Methods We screened the 15q11-13 and 22q11.2 chromosomal regions for genomic imbalances in 236 patients with OCD using multiplex ligation-dependent probe amplification (MLPA). Results No deletions or duplications involving 15q11-13 or 22q11.2 were identified in our patients. Conclusions Our results suggest that deletions/duplications of chromosomes 15q11-13 and 22q11.2 are rare in OCD. Despite the negative findings in these two regions, the search for copy number variants in OCD using genome-wide array-based methods is a highly promising approach to identify genes of etiologic importance in the development of OCD. |
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