ESPEYB16 14. Year in Science and Medicine 2019 (1) (18 abstracts)
14.15. Recovery of trait heritability from whole genome sequence data
Pierrick Wainschtein , Deepti P Jain , Loic Yengo , Zhili Zheng , TOPMed Anthropometry Working Group , Trans-Omics for Precision Medicine Consortium , L Adrienne Cupples , Aladdin H Shadyab , Barbara McKnight , Benjamin M Shoemaker , Braxton D Mitchell , Bruce M Psaty , Charles Kooperberg , Dan Roden , Dawood Darbar , Donna K Arnett , Elizabeth A Regan , Eric Boerwinkle , Jerome I Rotter , Matthew A Allison , Merry-Lynn N McDonald , Mina K Chung , Nicholas L Smith , Patrick T Ellinor , Ramachandran S Vasan , Rasika A Mathias , Stephen S Rich , Susan R Heckbert , Susan Redline , Xiuqing Guo , Y-D Ida Chen , Ching-Ti Liu , Mariza de Andrade , Lisa R Yanek , Christine M Albert , Ryan D Hernandez , Stephen T McGarvey , Kari E North , Leslie A Lange , Bruce S Weir , Cathy C Laurie , Jian Yang & Peter M Visscher
bioRxiv March 25, 2019. doi: https://doi.org/10.1101/588020
The Yearbook does not usually report on studies that are yet published only on ‘preprint’ servers, i.e. author-deposited versions of papers that have not been accepted or even peer-reviewed. However, Nature also made an exception for this paper (1)!
These authors analysed whole genome sequence data from the TOPMed study. Among 21,620 unrelated individuals >18 years old of European ancestry, they calculated that the 47 million genetic variants detected could explain 79% (SE 9%) of the population variation in height and 40% (S.E. 9%) for BMI, consistent with estimates from family based studies.
‘Missing heritability’ has puzzled genetics researchers for several years. Genome-wide association studies (GWAS) have identified hundreds of common genetic variants with robust associations with human diseases and traits. However, effect sizes are small and together it is computed that all current and future GWAS associations account for only 30–50% of heritability estimated from studies of such traits in families. This has even led to serious doubts over the over-estimation of heritability, typically derived from comparing the conconrdance of traits between monozygous and dizygous twins. Hence the current study provides great reassurance and promise. Firstly, reassurance that our long-held estimates of heritability are indeed correct; that genetics does have a substantial impact on many human traits. Secondly, promise that whole genome sequencing will pave the way to one day fully understanding the genetic basis for common variation of human traits among normal populations, with many new lessons for understanding disease mechanisms, treatments and prevention.
Reference: 1. News. Genetic study homes in on height’s heritability mystery. Nature 23 April 568, 444–445 (2019).
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ESPE Yearbook of Paediatric Endocrinology
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