The study sheds light on mysterious genotype-phenotype associations

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The genetic variants associated with the alternative lengths of 3’UTR mRNA are shown. A change from the T allele to the C allele leads to the elongation of a 3’UTR measured by a ruler. These genetic variants associated with 3’UTR provide substantial new insights into the molecular mechanisms underlying many features and diseases of the human complex. Credit: UCI Faculty of Medicine

A new study that analyzes the association between an individual’s genetics (genotype) and its observable characteristics resulting from the interaction of genetics and the environment (phenotype), brings new knowledge to the understanding of complex traits and diseases. the human being.

The study entitled “A loci atlas of quantitative traits of alternative polyadenylation (3’QTLs) that contributes to a complex trait and heritability, ”was recently published in Nature Genetics. research reveals how many differences there are in people’s genes explain the differences in their traits and what can be attributed to the effects of the surrounding environment.

“Our research is particularly important as it offers interpretations that explain how natural variations can shape human phenotypic diversity and tissue-specific diseases,” Li said. “Our most exciting finding was that certain events in human genes may explain a substantial proportion of the heritability of traits.”

It was well known that alternative polyadenylation 3′-UTR (APA) occurs in approximately 70 percent of and substantially affects cellular processes such as proliferation, differentiation, and tumorigenesis. But until now, the association of APA events with risk of disease and complex human traits was not well understood.

Genome-wide association studies have identified thousands of non-coding variants associated with human traits and diseases. However, the functional interpretation of these variants has proven to be an important challenge. In this study, researchers constructed a multi-tissue atlas of 3? Quantitative trait loci of alternative polyadenylation UTR (APA) (3′aQTLs), containing approximately 0.4 million common genetic variants associated with APA of target genes, identified in 46 isolated tissues of 467 individuals (Expression Project of genotype-tissue).

“From our findings, we could show that the specific molecular characteristics associated with human phenotypic variations contribute substantially to the traits and diseases of the underlying human complex, “Li explained.

The research team continues to study these molecular mechanisms to test the new 3’aQTL for diabetes, prostate cancer, Alzheimer’s disease, and amyotrophic lateral sclerosis (ALS).


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More information:
Lei Li et al, A loci atlas of quantitative traits of alternative polyadenylation that contributes to the complex feature and heritability of the disease, Genetics of nature (2021). DOI: 10.1038 / s41588-021-00864-5

Citation: Study sheds light on mysterious genotype-phenotype associations (2021, June 1) retrieved June 1, 2021 from https://medicalxpress.com/news/2021-06-mysterious-genotype-phenotype-associations. html

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