التفاصيل البيبلوغرافية
| العنوان: |
Analysis with the exome array identifies multiple new independent variants in lipid loci. |
| المؤلفون: |
S Kanoni, NGD Masca, KE Stirrups, TV Varga, HR Warren, RA Scott, L Southam, W Zhang, H Yaghootkar, M Müller-Nurasyid, A Couto Alves, RJ Strawbridge, L Lataniotis, N An Hashim, C Besse, A Boland, PS Braund, JM Connell, A Dominiczak, A-E Farmaki, S Franks, H Grallert, J-H Jansson, M Karaleftheri, S Keinänen-Kiukaanniemi, A Matchan, D Pasko, A Peters, N Poulter, NW Rayner, F Renström, O Rolandsson, M Sabater-Lleal, B Sennblad, P Sever, D Shields, A Silveira, AV Stanton, K Strauch, M Tomaszewski, E Tsafantakis, M Waldenberger, AIF Blakemore, G Dedoussis, SA Escher, JS Kooner, MI McCarthy, CNA Palmer, Wellcome Trust Case Control Consortium, A Hamsten, MJ Caulfield, TM Frayling, MD Tobin, M-R Jarvelin, E Zeggini, C Gieger, JC Chambers, NJ Wareham, PB Munroe, PW Franks, NJ Samani, P Deloukas |
| سنة النشر: |
2016 |
| المجموعة: |
University of Leicester: Figshare |
| مصطلحات موضوعية: |
Uncategorized, Adolescent, Adult, Aged, Child, Cholesterol, HDL, LDL, European Continental Ancestry Group, Exome, Gene Frequency, Genome-Wide Association Study, Humans, Lipid Metabolism, Lipids, Middle Aged, Polymorphism, Single Nucleotide, Triglycerides |
| الوصف: |
It has been hypothesized that low frequency (1-5% minor allele frequency (MAF)) and rare (<1% MAF) variants with large effect sizes may contribute to the missing heritability in complex traits. Here, we report an association analysis of lipid traits (total cholesterol, LDL-cholesterol, HDL-cholesterol triglycerides) in up to 27 312 individuals with a comprehensive set of low frequency coding variants (ExomeChip), combined with conditional analysis in the known lipid loci. No new locus reached genome-wide significance. However, we found a new lead variant in 26 known lipid association regions of which 16 were >1000-fold more significant than the previous sentinel variant and not in close LD (six had MAF <5%). Furthermore, conditional analysis revealed multiple independent signals (ranging from 1 to 5) in a third of the 98 lipid loci tested, including rare variants. Addition of our novel associations resulted in between 1.5- and 2.5-fold increase in the proportion of heritability explained for the different lipid traits. Our findings suggest that rare coding variants contribute to the genetic architecture of lipid traits. |
| نوع الوثيقة: |
article in journal/newspaper |
| اللغة: |
unknown |
| العلاقة: |
2381/44367; https://figshare.com/articles/journal_contribution/Analysis_with_the_exome_array_identifies_multiple_new_independent_variants_in_lipid_loci_/10197728Test |
| الإتاحة: |
https://figshare.com/articles/journal_contribution/Analysis_with_the_exome_array_identifies_multiple_new_independent_variants_in_lipid_loci_/10197728Test |
| حقوق: |
All Rights Reserved |
| رقم الانضمام: |
edsbas.5E5B31C8 |
| قاعدة البيانات: |
BASE |
