Total genetic contribution assessment across the human genome

Ting Li, Zheng Ning, Zhijian Yang, Ranran Zhai, Chenqing Zheng, Wenzheng Xu, Yipeng Wang, Kejun Ying, Yiwen Chen and Xia Shen ()
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Ting Li: Sun Yat-sen University
Zheng Ning: Sun Yat-sen University
Zhijian Yang: Sun Yat-sen University
Ranran Zhai: Sun Yat-sen University
Chenqing Zheng: Sun Yat-sen University
Wenzheng Xu: Sun Yat-sen University
Yipeng Wang: Sun Yat-sen University
Kejun Ying: Sun Yat-sen University
Yiwen Chen: Sun Yat-sen University
Xia Shen: Sun Yat-sen University

Nature Communications, 2021, vol. 12, issue 1, 1-9

Abstract: Abstract 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.

Date: 2021
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Persistent link: https://EconPapers.repec.org/RePEc:nat:natcom:v:12:y:2021:i:1:d:10.1038_s41467-021-23124-w

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DOI: 10.1038/s41467-021-23124-w

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