دورية أكاديمية
Rare genetic variants impact muscle strength.
| العنوان: | Rare genetic variants impact muscle strength. |
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| المؤلفون: | Huang Y; Research and Development, Biogen Inc., Cambridge, MA, USA. yunfeng.huang@biogen.com., Bodnar D; Research and Development, Biogen Inc., Cambridge, MA, USA., Chen CY; Research and Development, Biogen Inc., Cambridge, MA, USA., Sanchez-Andrade G; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Sanderson M; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Shi J; Research and Development, Biogen Inc., Cambridge, MA, USA., Meilleur KG; Research and Development, Biogen Inc., Cambridge, MA, USA., Hurles ME; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Gerety SS; Wellcome Sanger Institute, Hinxton, Cambridge, United Kingdom., Tsai EA; Research and Development, Biogen Inc., Cambridge, MA, USA., Runz H; Research and Development, Biogen Inc., Cambridge, MA, USA. heiko.runz@gmail.com. |
| مؤلفون مشاركون: | Biogen Biobank Team |
| المصدر: | Nature communications [Nat Commun] 2023 Jun 10; Vol. 14 (1), pp. 3449. Date of Electronic Publication: 2023 Jun 10. |
| نوع المنشور: | Journal Article |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: [London] : Nature Pub. Group |
| مواضيع طبية MeSH: | Hand Strength* , Muscular Diseases*, Humans ; Muscle Strength/genetics ; Mutation, Missense ; Genetic Predisposition to Disease ; Carrier Proteins |
| مستخلص: | Muscle strength is highly heritable and predictive for multiple adverse health outcomes including mortality. Here, we present a rare protein-coding variant association study in 340,319 individuals for hand grip strength, a proxy measure of muscle strength. We show that the exome-wide burden of rare protein-truncating and damaging missense variants is associated with a reduction in hand grip strength. We identify six significant hand grip strength genes, KDM5B, OBSCN, GIGYF1, TTN, RB1CC1, and EIF3J. In the example of the titin (TTN) locus we demonstrate a convergence of rare with common variant association signals and uncover genetic relationships between reduced hand grip strength and disease. Finally, we identify shared mechanisms between brain and muscle function and uncover additive effects between rare and common genetic variation on muscle strength. (© 2023. The Author(s).) |
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| معلومات مُعتمدة: | United Kingdom WT_ Wellcome Trust |
| فهرسة مساهمة: | Investigator: CD Whelan; P Bronson; D Sexton; S John; E Marshall; M Patel; S Duraisamy; T Swan; D Baird; S Eaton; J Gagnon; F Gao; C Gubbels; V Kupelian; K Li; D Liu; S Loomis; H McLaughlin; A Mitchell; B Sun |
| المشرفين على المادة: | 0 (GIGYF1 protein, human) 0 (Carrier Proteins) |
| تواريخ الأحداث: | Date Created: 20230610 Date Completed: 20230612 Latest Revision: 20240701 |
| رمز التحديث: | 20240701 |
| مُعرف محوري في PubMed: | PMC10257725 |
| DOI: | 10.1038/s41467-023-39247-1 |
| PMID: | 37301943 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 2041-1723 |
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| DOI: | 10.1038/s41467-023-39247-1 |