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Unlocking the secrets of adult human height

Although height is a complex, highly hereditable human trait, height variants identified by genome-wide association studies have typically been common, with small effect sizes cumulatively explaining only 20% of the heritability. Now, in a new study published in Nature, rare and low-frequency coding variants with height-increasing or height-decreasing effects of up to 2 cm per allele have been identified. Using a genotyping array approach, the association between 241,453 variants (83% of which were coding variants with a minor allele frequency (MAF) ≤5%) and adult height variation was tested in 711,428 (predominantly European) individuals. 83 height-associated variants (32 rare; 51 low-frequency) were identified (MAF range: 0.1–4.8%), of which rare missense variants in AR, CRISPLD2, IHH and STC2 had the largest effect sizes. Carriers of the STC2 variant were 2.1 cm taller than non-carriers; carriers of any of the other three variants were 2.0 cm shorter than non-carriers.


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    Marouli, E. et al. Rare and low-frequency coding variants alter human adult height. Nature 542, 186–190 (2017)

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Holmes, D. Unlocking the secrets of adult human height. Nat Rev Endocrinol 13, 190 (2017).

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