دورية أكاديمية

Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample

التفاصيل البيبلوغرافية
العنوان: Deep sequencing of candidate genes identified 14 variants associated with smoking abstinence in an ethnically diverse sample
المؤلفون: Paul M. Cinciripini, David W. Wetter, Jian Wang, Robert Yu, George Kypriotakis, Tapsi Kumar, Jason D. Robinson, Yong Cui, Charles E. Green, Andrew W. Bergen, Thomas R. Kosten, Steven E. Scherer, Sanjay Shete
المصدر: Scientific Reports, Vol 14, Iss 1, Pp 1-15 (2024)
بيانات النشر: Nature Portfolio, 2024.
سنة النشر: 2024
المجموعة: LCC:Medicine
LCC:Science
مصطلحات موضوعية: Smoking cessation, Candidate gene study, Single-nucleotide polymorphism, Rare variant, Sequencing, Medicine, Science
الوصف: Abstract Despite the large public health toll of smoking, genetic studies of smoking cessation have been limited with few discoveries of risk or protective loci. We investigated common and rare variant associations with success in quitting smoking using a cohort from 8 randomized controlled trials involving 2231 participants and a total of 10,020 common and 24,147 rare variants. We identified 14 novel markers including 6 mapping to genes previously related to psychiatric and substance use disorders, 4 of which were protective (CYP2B6 (rs1175607105), HTR3B (rs1413172952; rs1204720503), rs80210037 on chr15), and 2 of which were associated with reduced cessation (PARP15 (rs2173763), SCL18A2 (rs363222)). The others mapped to areas associated with cancer including FOXP1 (rs1288980) and ZEB1 (rs7349). Network analysis identified significant canonical pathways for the serotonin receptor signaling pathway, nicotine and bupropion metabolism, and several related to tumor suppression. Two novel markers (rs6749438; rs6718083) on chr2 are flanked by genes associated with regulation of bodyweight. The identification of novel loci in this study can provide new targets of pharmacotherapy and inform efforts to develop personalized treatments based on genetic profiles.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 2045-2322
Relation: https://doaj.org/toc/2045-2322
DOI: 10.1038/s41598-024-56750-7
URL الوصول: https://doaj.org/article/7508837f9caa4e14ad97cc6863aab246
رقم الأكسشن: edsdoj.7508837f9caa4e14ad97cc6863aab246
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:20452322
DOI:10.1038/s41598-024-56750-7