دورية أكاديمية
Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene
| العنوان: | Analysis of genetically driven alternative splicing identifies FBXO38 as a novel COPD susceptibility gene |
|---|---|
| المؤلفون: | Saferali, Aabida, Yun, Jeong H., Parker, Margaret M., Sakornsakolpat, Phuwanat, Chase, Robert P., Lamb, Andrew, Hobbs, Brian D., Boezen, Marike H., Dai, Xiangpeng, de Jong, Kim, Beaty, Terri H., Wei, Wenyi, Zhou, Xiaobo, Silverman, Edwin K., Cho, Michael H., Castaldi, Peter J., Hersh, Craig P. |
| المصدر: | COPDGene Investigators , Int COPD Genetics Consortium Inves , Saferali , A , Yun , J H , Parker , M M , Sakornsakolpat , P , Chase , R P , Lamb , A , Hobbs , B D , Boezen , M H , Dai , X , de Jong , K , Beaty , T H , Wei , W , Zhou , X , Silverman , E K , Cho , M H , Castaldi , P J & Hersh , C P 2019 , ' Analysis of genetically driven alternative splicing identifies FBXO38 as .... |
| سنة النشر: | 2019 |
| المجموعة: | University of Groningen research database |
| مصطلحات موضوعية: | OBSTRUCTIVE PULMONARY-DISEASE, GENOME-WIDE ASSOCIATION, LUNG-FUNCTION, VARIANTS, RISK, LOCI, POLYMORPHISMS, EPIDEMIOLOGY, ACTIVATION, APOPTOSIS |
| الوصف: | While many disease-associated single nucleotide polymorphisms (SNPs) are associated with gene expression (expression quantitative trait loci, eQTLs), a large proportion of complex disease genome-wide association study (GWAS) variants are of unknown function. Some of these SNPs may contribute to disease by regulating gene splicing. Here, we investigate whether SNPs that are associated with alternative splicing (splice QTL or sQTL) can identify novel functions for existing GWAS variants or suggest new associated variants in chronic obstructive pulmonary disease (COPD). RNA sequencing was performed on whole blood from 376 subjects from the COPDGene Study. Using linear models, we identified 561,060 unique sQTL SNPs associated with 30,333 splice sites corresponding to 6,419 unique genes. Similarly, 708,928 unique eQTL SNPs involving 15,913 genes were detected at 10% FDR. While there is overlap between sQTLs and eQTLs, 55.3% of sQTLs are not eQTLs. Co-localization analysis revealed that 7 out of 21 loci associated with COPD (p |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | https://research.rug.nl/en/publications/11008b11-1003-4db8-89a2-36b8f16852c3Test |
| DOI: | 10.1371/journal.pgen.1008229 |
| الإتاحة: | https://doi.org/10.1371/journal.pgen.1008229Test https://hdl.handle.net/11370/11008b11-1003-4db8-89a2-36b8f16852c3Test https://research.rug.nl/en/publications/11008b11-1003-4db8-89a2-36b8f16852c3Test https://pure.rug.nl/ws/files/95579664/journal.pgen.1008229.pdfTest |
| حقوق: | info:eu-repo/semantics/openAccess |
| رقم الانضمام: | edsbas.76850608 |
| قاعدة البيانات: | BASE |
| DOI: | 10.1371/journal.pgen.1008229 |
|---|