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, Xia Shen

Research output: Contribution to journalArticlepeer-review

Abstract / Description of output

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.

Original languageEnglish
Pages (from-to)2845
JournalNature Communications
Volume12
Issue number1
DOIs
Publication statusPublished - 14 May 2021

Keywords / Materials (for Non-textual outputs)

  • Biological Specimen Banks/statistics & numerical data
  • Computer Simulation
  • Genome, Human
  • Genome-Wide Association Study/statistics & numerical data
  • Humans
  • Models, Genetic
  • Molecular Sequence Annotation/statistics & numerical data
  • Multifactorial Inheritance/genetics
  • Organ Specificity/genetics
  • Phenotype
  • Polymorphism, Single Nucleotide
  • Quantitative Trait Loci

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