کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8963677 | 1646629 | 2018 | 61 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A decade of research on the 17q12-21 asthma locus: Piecing together the puzzle
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کلمات کلیدی
Erb-B2 Receptor Tyrosine Kinase 2eQTLGPiYRIPBLCOPSACCEULCLETsCTCFBECGSDMBERBB2ORMDL3TRMASMCPCA - PCAExpression quantitative trait locus - بیان صفات کمی صفاتGene expression - بیان ژنPrincipal components analysis - تجزیه و تحلیل اجزای اصلیWheezing - خستگیenvironmental tobacco smoke - دود سیگار محیطیBronchial epithelial cell - سلول اپیتلیال برونشAirway smooth muscle cell - سلول عضله صاف راه هواییLymphoblastoid cell line - سلول لنفوبلاستوئیدImmune cells - سلول های ایمنیLung cells - سلولهای ریهCCCTC-binding factor - عامل اتصال دهنده CCCTCLinkage disequilibrium - عدم تعادل پیوستگیPeripheral blood leukocyte - لکوسیت خون محیطیGenome-wide association study - مطالعه مرتبط با ژنومGWAS - مطالعهٔ همخوانی سراسر ژنومodds ratio - نسبت شانس هاSingle nucleotide polymorphism - پلیمورفیسم تک نوکلئوتیدیSNP - چندریختی تک-نوکلئوتیدglycosylphosphatidylinositol - گلیکوزیل فسفاتیدیلینوزیتولYoruba in Ibadan, Nigeria - یوروبا در ایبادان، نیجریه
موضوعات مرتبط
علوم زیستی و بیوفناوری
ایمنی شناسی و میکروب شناسی
ایمونولوژی
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چکیده انگلیسی
Chromosome 17q12-21 remains the most highly replicated and significant asthma locus. Genotypes in the core region defined by the first genome-wide association study correlate with expression of 2 genes, ORM1-like 3 (ORMDL3) and gasdermin B (GSDMB), making these prime candidate asthma genes, although recent studies have implicated gasdermin AÂ (GSDMA) distal to and post-GPI attachment to proteins 3 (PGAP3) proximal to the core region as independent loci. We review 10Â years of studies on the 17q12-21 locus and suggest that genotype-specific risks for asthma at the proximal and distal loci are not specific to early-onset asthma and mediated by PGAP3, ORMDL3, and/or GSDMA expression. We propose that the weak and inconsistent associations of 17q single nucleotide polymorphisms with asthma in African Americans is due to the high frequency of some 17q alleles, the breakdown of linkage disequilibrium on African-derived chromosomes, and possibly different early-life asthma endotypes in these children. Finally, the inconsistent association between asthma and gene expression levels in blood or lung cells from older children and adults suggests that genotype effects may mediate asthma risk or protection during critical developmental windows and/or in response to relevant exposures in early life. Thus studies of young children and ethnically diverse populations are required to fully understand the relationship between genotype and asthma phenotype and the gene regulatory architecture at this locus.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of Allergy and Clinical Immunology - Volume 142, Issue 3, September 2018, Pages 749-764.e3
Journal: Journal of Allergy and Clinical Immunology - Volume 142, Issue 3, September 2018, Pages 749-764.e3
نویسندگان
Michelle M. PhD, Emma E. PhD, Nathan MD, PhD, Britney A. PhD, Kevin M. BS, Catherine MS, Catherine PhD, Andréanne PhD, Charles BA, Dan PhD, Klaus PhD, Carole PhD,