دورية أكاديمية
Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels
| العنوان: | Genome-Wide Association Analysis and Genomic Prediction of Thyroglobulin Plasma Levels |
|---|---|
| المؤلفون: | Pleić, Nikolina, Babić Leko, Mirjana, Gunjača, Ivana, Boutin, Thibaud, Torlak, Vesela, Matana, Antonela, Punda, Ante, Polašek, Ozren, Hayward, Caroline, Zemunik, Tatijana |
| المصدر: | http://bib.irb.hr/1181663Test ; International Journal of Molecular Sciences ; Volume 23 ; Issue 4 ; ISSN 1422-0067 (Online. |
| سنة النشر: | 2022 |
| المجموعة: | The University of Split Repository |
| مصطلحات موضوعية: | genome-wide association study, thyroglobulin, thyroid, ST6GAL1, LMM, BSLMM, BIOMEDICINA I ZDRAVSTVO. Temeljne medicinske znanosti. Genetika, genomika i proteomika čovjeka, BIOMEDICINE AND HEALTHCARE. Basic Medical Sciences. Human Genetics, Genomics and Proteomics |
| الوصف: | Thyroglobulin (Tg) is an iodoglycoprotein produced by thyroid follicular cells which acts as an essential substrate for thyroid hormone synthesis. To date, only one genome-wide association study (GWAS) of plasma Tg levels has been performed by our research group. Utilizing recent advancements in computation and modeling, we apply a Bayesian approach to the probabilistic inference of the genetic architecture of Tg. We fitted a Bayesian sparse linear mixed model (BSLMM) and a frequentist linear mixed model (LMM) of 7, 289, 083 variants in 1096 healthy European-ancestry participants of the Croatian Biobank. Meta- analysis with two independent cohorts (total n = 2109) identified 83 genome-wide significant single nucleotide polymorphisms (SNPs) within the ST6GAL1 gene (p<5×10−8). BSLMM revealed additional association signals on chromosomes 1, 8, 10, and 14. For ST6GAL1 and the newly uncovered genes, we provide physiological and pathophysiological explanations of how their expression could be associated with variations in plasma Tg levels. We found that the SNP-heritability of Tg is 17% and that 52% of this variation is due to a small number of 16 variants that have a major effect on Tg levels. Our results suggest that the genetic architecture of plasma Tg is not polygenic, but influenced by a few genes with major effects. |
| نوع الوثيقة: | article in journal/newspaper |
| وصف الملف: | application/pdf |
| اللغة: | English |
| العلاقة: | Klinički bolnički centar Split.; University Hospital of Split.; Sveučilište u Splitu. Medicinski fakultet. Medicinska biologija.; University of Split. School of Medicine. Medical biology.; https://repozitorij.svkst.unist.hr/islandora/object/mefst:1432Test; https://urn.nsk.hr/urn:nbn:hr:171:272227Test; https://repozitorij.svkst.unist.hr/islandora/object/mefst:1432/datastream/FILE0Test |
| الإتاحة: | https://doi.org/10.3390/ijms23042173Test https://repozitorij.svkst.unist.hr/islandora/object/mefst:1432Test https://urn.nsk.hr/urn:nbn:hr:171:272227Test https://repozitorij.svkst.unist.hr/islandora/object/mefst:1432/datastream/FILE0Test |
| حقوق: | info:eu-repo/semantics/openAccess ; http://creativecommons.org/licenses/by/4.0Test/ |
| رقم الانضمام: | edsbas.92A21CD7 |
| قاعدة البيانات: | BASE |
| الوصف غير متاح. |