Abstract
Comprehending the molecular basis of quantitative genetic variation is a principal goal for complex diseases or traits. Molecular quantitative trait loci (molQTLs) have made it possible to investigate the effects of genetic variants hiding behind large-scale omics data. A deeper understanding of molQTL is urgently required in light of the multi-dimensionalization of omics data to more fully elucidate the pertinent biological mechanisms. Herein, we reviewed molQTLs with the corresponding resource from the omics perspective and further discussed the integrative strategy of GWAS-molQTL to infer their causal effects. Subsequently, we described the opportunities and challenges encountered by molQTL. The case studies showed that molQTL is essential for complex diseases and traits, whether single- or multi-omics QTLs. Overall, we highlighted the functional significance of genetic variants to employ the discovery of molQTL in complex diseases and traits.
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This work was supported by the Tou-Yan Innovation Team Program of the Heilongjiang Province (2019-15), the National Natural Science Foundation of China (62222104, 62172130), and Heilongjiang Postdoctoral Fund (LBH-Q20030).
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Zhu, Z., Chen, X., Zhang, S. et al. Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective. Hum. Genet. 142, 1543–1560 (2023). https://doi.org/10.1007/s00439-023-02602-9
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DOI: https://doi.org/10.1007/s00439-023-02602-9