Review Examines Genome-Wide Association Studies’ Effects on Understanding of Human Growth

A review recently published in The Journal of Clinical Endocrinology & Metabolism looks at how genome-wide association studies (GWASs) have impacted the medical community’s understanding of the underlying biology of human growth.

The paper, by Michael H. Guo, of the Broad Institute of MIT and Harvard in Cambridge, Mass., et al., summarizes key findings of GWASs for height and growth-related traits, since height is heritable and the genetic basis for height is of great interest to the medical field. “Understanding the genetic architecture of height—the number of genetic variants that contribute to variation in height, their frequencies in the population, and the magnitude of each genetic variant’s effect (i.e., effect sizes)—can teach us lessons about how to study the genetic underpinnings of other complex genetic traits and disease,” the authors write.

“Moreover,” they continue, “understanding the genetics of height can illuminate the underlying biology of human growth and provide insight into disorders of growth, such as short stature.”

The researchers examined GWASs related to height using PubMed and the GWAS catalog and found that these studies show that height is highly polygenic, with many thousands of genetic variants contributing to height. These studies have also uncovered previously underappreciated genetic pathways that may explain growth and height. “These height-associated regions of the genome are enriched for genes in known biological pathways involved in growth, such as fibroblast growth factor signaling, as well as for genes expressed in relevant tissues, such as the growth plate,” the authors write.

They go on to write that these GWASs can provide further insight into Mendelian growth disorders and skeletal dysplasia, since the genes implicated in GWASs are the same genes that are the genetic causes of these disorders. “An important but more distant clinical application of GWAS findings is the discovery of new therapeutics for growth disorders,” the authors write. “GWASs for height have clearly identified genes, tissues, and pathways that influence growth. Many of these genes might serve as prime therapeutic targets.”

The review covers a lot of ground and ends with some perspectives for the future, further uses for these GWASs, including looking at how emerging technologies like CRISPR might help scientists translate GWASs findings into novel insights about human growth. “These insights into the biology of growth could play an important role in the translation of genetic findings into therapies for disorders of growth,” the authors write.

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