83 rare, novel genetic variants have an impact on human height

83 rare, novel genetic variants have an impact on human height

Marouli and co-authors (there are 371 of them!) reported a study in Nature on the heritability of human height due to rare genetic variants. Height is a well-known polygenic trait, and it has been studied extensively in genome-wide association studies (GWAS). GWAS typically only examines variants with minor allele frequencies above 5%, thus neglecting rare variants. The new study is powered by a massive (n=711,428 individuals) database of exome-chip data, and found 83 rare variants that influence height. Some of these new variants are located in genes that are involved in skeletal development. The ten most significant genes were: OSGIN1, CRISPLD1, CSAD, SNED1, G6PC, NOX4, UGGT2, FLNB, B4GALNT3, and CCDC3. The authors state that the novel markers don’t increase the explained disease risk at the population level, but contributes to prediction of individual effects in precision medicine. The bottom line is that other complex human diseases and traits are likely also influenced by rare genetic variants, such as cardiometabolic diseases, cancers and allergies.

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