Total genetic contribution assessment across the human genome

Quantifying the overall magnitude of every single locus’ genetic effect on the widely measured human phenome is of great challenge. We introduce a unified modelling technique that can consistently provide a total genetic contribution assessment (TGCA) of a gene or genetic variant without thresholdin...

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Detalles Bibliográficos
Autores principales: Li, Ting, Ning, Zheng, Yang, Zhijian, Zhai, Ranran, Zheng, Chenqing, Xu, Wenzheng, Wang, Yipeng, Ying, Kejun, Chen, Yiwen, Shen, Xia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8121943/
https://www.ncbi.nlm.nih.gov/pubmed/33990588
http://dx.doi.org/10.1038/s41467-021-23124-w
Descripción
Sumario:Quantifying the overall magnitude of every single locus’ genetic effect on the widely measured human phenome is of great challenge. We introduce a unified modelling technique that can consistently provide a total genetic contribution assessment (TGCA) of a gene or genetic variant without thresholding genetic association signals. Genome-wide TGCA in five UK Biobank phenotype domains highlights loci such as the HLA locus for medical conditions, the bone mineral density locus WNT16 for physical measures, and the skin tanning locus MC1R and smoking behaviour locus CHRNA3 for lifestyle. Tissue-specificity investigation reveals several tissues associated with total genetic contributions, including the brain tissues for mental health. Such associations are driven by tissue-specific gene expressions, which share genetic basis with the total genetic contributions. TGCA can provide a genome-wide atlas for the overall genetic contributions in each particular domain of human complex traits.

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